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Autosomal Dominant Polycystic Kidney Disease

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Part of the book series: Developments in Nephrology ((DINE,volume 27))

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary disease occurring in 1 in 200 to 1 in 1,000 individuals. ADPKD is characterized by cystic lesions in the kidneys and often by structural abnormalities in the gastrointestinal tract and cardiovascular system. The pathogenesis of the disorder appears to involve both cellular proliferation and altered extracellular matrix synthesis. Diagnosis can be established most readily by the sonographic demonstration of renal cysts or by gene linkage analysis. Renal manifestations of ADPKD include hypertension, infection, nephrolithiasis and malignancy. The prominent extrarenal manifestations include hepatic cysts, mitral valve prolapse and intracranial aneurysms. Although only 2% of nephrons appear to be involved in cyst formation, the renal function often slowly deteriorates. Presently, there is a 52% probability of an ADPKD subject’s being alive without renal replacement therapy at age 73. ADPKD patients with endstage renal disease respond to renal replacement therapy as well as other patient groups.

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References

  1. Ackerman GL. Nephrotic syndrome in polycystic renal disease. Journal of Urology 1971, 105, 7 – 9.

    PubMed  CAS  Google Scholar 

  2. Ahmed S. Simple renal cysts in childhood. British Journal Urology 1972, 44, 71 – 75.

    CAS  Google Scholar 

  3. Almay TP, Howell DA. Diverticular disease of the colon. New England Journal of Medicine 1980, 302, 324 – 331.

    Google Scholar 

  4. Amamoo DG, Woods JE, Anderson CF. Renal transplantation in end stage polycystic renal disease. Journal of Urology 1974, 112, 443 – 444.

    PubMed  CAS  Google Scholar 

  5. Amar AE, DAS S, Egan RM. Management of urinary calculous disease in patients with renal cysts: Review of 12 years of experience in 18 patients. Journal of Urology 1981, 125, 153 – 156.

    PubMed  CAS  Google Scholar 

  6. Anderson RJ, Miller PD, Linas SL, Katz FH and Holmes JH. Role of the renin-angiotensin system in hypertension of polycystic kidney disease. Mineral and Electrolyte Metabolism 1979, 2, 137 – 141.

    CAS  Google Scholar 

  7. Anton P and Abramowsky CR. Adult polycystic renal disease presenting in infancy: a report emphasizing the bilateral involvement. Journal of Urology 1982, 128, 1290 – 1291.

    PubMed  CAS  Google Scholar 

  8. Baert L. Hereditary polycystic kidney disease (adult form): A microdissection study of two cases at an early state of the disease. Kidney International 1978, 13, 519 – 525.

    PubMed  CAS  Google Scholar 

  9. Bear JC, McManamon P, Morgan J, Payne RH, Lewis H, Gault MH and Churchill DN. Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: Data for genetic counselling. American Journal of Medical Genetics 1984, 18, 45 – 53.

    PubMed  CAS  Google Scholar 

  10. Begleiter ML, Smith TH and Harris DJ. Letter: Ultrasound for genetic counselling in polycystic kidney disease. Lancet 1977, 2, 1073 – 1074.

    PubMed  CAS  Google Scholar 

  11. Bell PE, Hossack KF, Gabow PA, Durr JA, Johnson AM, Schrier RW. Hypertension in autosomal dominant polycystic kidney disease. Kidney International, 1988, 34, 683 – 690.

    PubMed  CAS  Google Scholar 

  12. Bengtsson U, Hedman L, Svalander C. Adult type of polycystic kidney disease in a new-born child. Acta Medica Scandinavica 1975, 197, 447 – 450.

    PubMed  CAS  Google Scholar 

  13. Bennett WE. General features of autosomal dominant polycystic kidney disease: Evaluation and management of renal infection. In: Grantham JJ, Gardner KD Jr, Problems in Diagnosis and Management of Polycystic Kidney Disease. Kansas City: PKR Foundation, 1985, 98 – 105.

    Google Scholar 

  14. Bennett WM, Elzinga L, Golper TA, Barry JM. Reduction of cyst volume for symptomatic management of autosomal dominant polycystic kidney disease. Journal of Urology 1987, 137, 620 – 622.

    PubMed  CAS  Google Scholar 

  15. Bernstein J, Evan AP, Gardner KD Jr. Epithelial hyperplasia in human polycystic kidney diseases: Its role in pathogenesis and risk of neoplasia. American Journal of Pathology 1987, 129, 92 – 101.

    PubMed  CAS  Google Scholar 

  16. Bigelow NH. The association of polycystic kidneys with intracranial aneurysms and other related disorders. American Journal of Medicine Sci 1953, 225, 485 – 494.

    CAS  Google Scholar 

  17. Blyth H and Ockenden B. Polycystic disease of kidneys and liver presenting in childhood. Journal of Medical Genetics 1971, 8, 257 – 284.

    PubMed  CAS  Google Scholar 

  18. Boehnke M, Conneally PM, Lange K. Two models for a maternal factor inheritance of Huntington disease. American Journal of Human Genetics 1983, 35, 845 – 860.

    PubMed  CAS  Google Scholar 

  19. Braasch WF and Schacht FW. Pathological and clinical data concerning polycystic kidney. Surgery and Gynecological Obstetrics 1933, 57, 467 – 475.

    Google Scholar 

  20. Breuning MH, Brunner H, Saris JJ, van Ommen GJB, Reeders ST, Ijdo JW, Verwest A and Pearson PL. Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers. Lancet 1987, 2, 1359 – 1361.

    PubMed  CAS  Google Scholar 

  21. Brown RAP. Polycystic disease of the kidneys and intracranial aneurysms. The etiology and interrelationship of these conditions: Review of recent literature and report of seven cases in which both conditions coexisted. Glasgow Medical Journal 1951, 32, 333 – 348.

    PubMed  CAS  Google Scholar 

  22. Butkowski RJ, Carone FA, Grantham JJ, Hudson BG. Tubular basement membrane changes in 2-amino-4, 5-diphenylthiazole-induced polycystic disease. Kidney International 1985, 28, 744 – 751.

    CAS  Google Scholar 

  23. Carone FA. Functional changes in polycystic kidney disease are tubulo-interstitial in origin. Seminars in Nephrology 1988, 8, 89 – 93.

    PubMed  CAS  Google Scholar 

  24. Carone FA, Rowland RG, Perlman SG, Ganote CE. The pathogenesis of drug-induced renal cystic disease. Kidney International 1974, 5, 411 – 421.

    PubMed  CAS  Google Scholar 

  25. Chandra M, Miller ME, Garcia JF, Mossey RT and McVicar M. Serum immunoreactive erythropoietin levels in patients with polycystic kidney disease as compared with other hemodialysis patients. Nephron 1985, 39, 26 – 29.

    PubMed  CAS  Google Scholar 

  26. Chester AC, Argy WP Jr, Rakowski TA, Schreiner GE. Polycystic kidney disease and chronic hemodialysis. Clinical Nephrology 1978, 10, 129 – 133.

    PubMed  CAS  Google Scholar 

  27. Chevalier RL, Garland TA, Buschi AJ. The neonate with adult- type autosomal dominant polycystic kidney disease. International Journal of Pediatric Nephrology 1981, 2, 73 – 77.

    PubMed  CAS  Google Scholar 

  28. Churchill DN, Bear JC, Morgan J Payne RH, McManamon PJ and Gault MH. Prognosis of adult onset polycystic kidney disease re-evaluated. Kidney International 1984, 26, 190 – 193.

    PubMed  CAS  Google Scholar 

  29. Cole BR, Conley SB, Stapleton FB. Polycystic kidney disease in the first year of life. Journal of Pediatrics 1987, 111, 693 – 699.

    PubMed  CAS  Google Scholar 

  30. Cole WG, Chan D, Hickey AJ, Wilken EL. Collagen composition of normal and myxomatous human mitral heart valves. Biochemical Journal 1984, 219, 451 – 460.

    PubMed  CAS  Google Scholar 

  31. Crocker JFS, Brown DM, Borch RF, Vernier RL. Renal cystic disease induced in newborn rats by diphenylamine derivatives. American Journal Pathology 1972, 66, 343– 350.

    Google Scholar 

  32. D’Angelo A, Mioni G, Ossi E, Lupo A, Valvo E, Maschio G. Alterations in renal tubular sodium and water transport in polycystic kidney disease. Clinical Nephrology 1975, 3, 99 – 105.

    PubMed  Google Scholar 

  33. Dalgaard OZ. Bilateral polycystic disease of the kidneys: A follow- up of two hundred and eighty-four patients and their families. Acta Medica Scandanavica 1957, 158, 326 – 329.

    Google Scholar 

  34. Danovitch GM. Clinical features and pathophysiology of polycystic kidney disease in man. In: Gardner KD Jr, Cystic Diseases of the Kidney. New York: Wiley, 1976, 125 – 150.

    Google Scholar 

  35. Darmady EM, Offer J and Woodhouse MA. Comparison of experimental and human polycystic disease: Thoughts on etiology. Nephron 1965, 4, 254 – 255.

    Google Scholar 

  36. De la Monte S, Moore GH Monk MA, Hutchins GM. Risk factors for the development and rupture of intracranial berry aneurysms. American Journal of Medicine 1985, 78, 957 – 964.

    PubMed  Google Scholar 

  37. Delaney VB, Adler S, Bruns FJ, Licinia M, Segel DP and Fraley DS. Autosomal dominant polycystic kidney disease: Presentation, complications, and prognosis. American Journal Kidney Diseases 1985, 5, 104 – 111.

    CAS  Google Scholar 

  38. Ditlefsen EML,Tonjum AM. Intracranial aneurysms and polycystic kidneys. Acta Medica Scandinavica 1960, 168, 51 – 54.

    Google Scholar 

  39. Dobyan DC, Hill D, Lewis T, Bulger RE. Cyst formation in rat kidney induced by cisplatinum administration. Laboratory Investigation 1981, 45, 260 – 268.

    PubMed  CAS  Google Scholar 

  40. Duren DR, Becker AE, Dunning AJ. Long-term follow-up of idiopathic mitral valve prolapse in 300 patients: A prospective study. JACC 1988, 11, 42 – 47.

    PubMed  CAS  Google Scholar 

  41. Durham DS. Tuberous sclerosis mimicking adult polycystic kidney disease. Australi and New Zealand Journal of Medicine 1987, 17, 71 – 73.

    CAS  Google Scholar 

  42. Eggers PW, Connerton R and McMullan M. The Medicare experience with end-stage renal disease: Trends in incidence, prevalence, and survival. Health Care Financing Review 1984, 5, 69 – 88.

    PubMed  CAS  Google Scholar 

  43. Elzinga L, Rashad A, Golper TA, Bennett WM. Antibiotic activity in cyst fluid of patients with cystic kidney disease (CKD). Abstract: Tenth International Congress of Nephrology, 1987.

    Google Scholar 

  44. Eulderink F, Hogewind BL. Renal cysts in premature children. Archives of Pathology and Laboratory Medicine 1978, 102, 592 – 595.

    PubMed  CAS  Google Scholar 

  45. Evan AP, Gardner KD Jr. Comparison of human polycystic and medullary cystic kidney disease with diphenylamine-induced cystic disease. Laboratory Investigation 1976, 35, 93 – 101.

    PubMed  CAS  Google Scholar 

  46. Evan AP, Gardner KD Jr. Nephron obstruction in nordihydroguaiaretic acid-induced renal cystic disease. Kidney International 1979, 15, 7 – 19.

    PubMed  CAS  Google Scholar 

  47. Evan AP, Gardner KD Jr, Bernstein J. Polypoid and papillary epithelial hyperplasia: A potential cause of ductal obstruction in adult polycystic disease. Kidney International 1979, 16, 743 – 750.

    CAS  Google Scholar 

  48. Evan AP, Hong SK, Gardner KD Jr, Park YS, Itagaki R. Evolution of the collecting tubular lesion in diphenylamine-induced renal disease. Laboratory Investigation 1978, 38, 242 – 252.

    Google Scholar 

  49. Everson GT, Scherzinger A, Leff N, Reichen J, Lezotte D Manco-Johnson M, and Gabow P,. Polycystic liver disease: Quantitation of parenchymal and cyst volumes from CT images and clinical correlates of hepatic cysts. Hepatology 1988, 8, 1627 – 1634.

    PubMed  CAS  Google Scholar 

  50. Fellows RA, Leonidas JC and Beatty EC. Radiologic features of "adult type" polycystic kidney disease in the neonate. Pediatric Radiology 1976, 4, 87 – 92.

    PubMed  CAS  Google Scholar 

  51. Fisher J, Mekhjian H, Pritchett ELC, Charms LS. Polycystic liver disease: Studies in the mechanism of cyst fluid formation: A case report. Gastroenterology 1974, 66, 423 – 428.

    PubMed  CAS  Google Scholar 

  52. Forssell J. Nephrogenous polycythemia. Acta Medica Scandinavica 1958, CLXI, 169–179.

    Google Scholar 

  53. Frang D, Czvalinga I, Polyak L. A new approach to the treatment of polycystic kidneys. International Urology and Nephrology 1988, 20, 13 – 21.

    PubMed  CAS  Google Scholar 

  54. Franz KA and Reubi FC. Rate of functional deterioration in polycystic kidney disease. Kidney International 1983, 23, 526 – 529.

    PubMed  CAS  Google Scholar 

  55. Fryns JP, Van Den Berghe H. Letter: "Adult" form of polycystic kidney disease in neonates. Clinical Genetics 1978, 15, 205 – 206.

    Google Scholar 

  56. Gabow PA. Epidemiology of autosomal dominant polycystic kidney disease: Implications for genetic counselling. In: Spitzer A and Avner E, Topics in Renal Medicine: The Genetics of Hereditary Nephropathies. Boston: Martinus Nijhoff, 1988. ( In Press ).

    Google Scholar 

  57. Gabow PA, Everson GT, Kaehny WD, Johnson AM, Schrier RW. Clinical characteristics and determinants of hepatic cysts in autosomal dominant polycystic kidney disease. Kidney International (Abstr), 1988, 33, 196.

    Google Scholar 

  58. Gabow PA, Heard E, Pretorius D, Duley I, Bell P, Kaehny W and Schrier RW. Relationship between renal structure and hypertension in autosomal dominant polycystic kidney disease (ADPKD). American Society of Nephrology 1986, 19, 140A.

    Google Scholar 

  59. Gabow PA, Ikle DW, Holmes JH. Polycystic kidney disease: Prospective analysis of nonazotemic patients and family members. Annals of Internal Medicine 1984, 101, 238 – 247.

    PubMed  CAS  Google Scholar 

  60. Gabow PA, Kaehny WD, Johnson AM, Duley IT, Manco-Johnson M, Lezotte DC and Schrier RW. The clinical utility of renal concentrating capacity in polycystic kidney disease. Kidney International 1988. American Journal of Kidney Diseases 1987, 9, 27 – 38.

    Google Scholar 

  61. Gabow PA, Schrier RW. Physiopathologie de la polykystose renale de l’adulte. Flammarion Medecine-Sciences - Actualites Nephrologiques 1988, 25 – 38.

    Google Scholar 

  62. Gardner KD. Composition of fluid in twelve cysts of a polycystic kidney. New England Journal of Medicine 1969, 281, 985 – 988.

    PubMed  CAS  Google Scholar 

  63. Gardner KD Jr, Evan AP. Cystic kidneys: An enigma evolves. American Journal of Kidney Diseases 1984, 3, 403 – 413.

    PubMed  Google Scholar 

  64. Gardner KD Jr, Evan AP. Renal cystic disease induced by diphenylthiazole. Kidney International 1983, 24, 43 – 52.

    PubMed  CAS  Google Scholar 

  65. Gardner KD Jr, Evan AP, Reed WP. Accelerated cyst development in deconditioned germfree rats. Kidney International 1986, 29, 1116 – 1123.

    PubMed  Google Scholar 

  66. Gardner KD Jr, Reed WP, Evan AP, Zedalis Journal Hylarides MD, Leon AA. Endotoxin provocation of experimental renal cystic disease. Kidney International 1987, 32, 329 – 334.

    PubMed  CAS  Google Scholar 

  67. Gardner KD Jr, Solomon S, Fitzgerrel WW, Evan AP. Function and structure in the diphenylamine-exposed kidney. Journal of Clinical Investigation 1976, 57, 796 – 806.

    PubMed  Google Scholar 

  68. Ghose MK, Sampliner JE, Cohn P, Roza O. Spontaneous colonic perforation: A complication in a hemodialysis patient. Journal of the American Medical Association 1970, 214, 145.

    PubMed  CAS  Google Scholar 

  69. Goldman R. Colon perforation in polycystic kidney disease. Journal of the American Medical Association 1975, 233, 137.

    PubMed  CAS  Google Scholar 

  70. Goodman T, Grice HC, Becking GC, Salem FA. A cystic nephropathy induced by nordihydroguaiaretic acid in the rat. Laboratory Investigation 1970, 23, 93 – 107.

    PubMed  CAS  Google Scholar 

  71. Gordon RL, Pollack HM, Popky GL, Duckett JW Jr. Simple serous cysts of the kidney in children. Pediatric Radiology 1979, 131, 357 – 361.

    CAS  Google Scholar 

  72. Graham PC, Lindop GBM. The anatomy of the renin-secreting cell in adult polycystic kidney disease. Kidney International 1988, 33, 1084 – 1090.

    PubMed  CAS  Google Scholar 

  73. Granot Y, Van Putten V, Summer S, Granot H, Gabow P, Schrier R. The Biosynthesis of intra- and extracellular proteins by cultured human polycystic kidney (HPKD) cells. Abstract: Western Association of Physicians, 1988.

    Google Scholar 

  74. Grantham JJ. Polycystic kidney disease: A predominance of giant nephrons. American Journal of Physiology 1983, 244, F3 – F10.

    PubMed  CAS  Google Scholar 

  75. Grantham JJ and Gabow PA. Polycystic kidney disease. In: Schrier RW and Gottschalk CW, Diseases of the Kidney. Boston: Little, Brown and Company, 1988, 583 – 615.

    Google Scholar 

  76. Grantham JJ, Geiser JL, Evan AP. Cyst formation and growth in autosomal dominant polycystic kidney disease. Kidney International 1987, 31, 1145 – 1152.

    PubMed  CAS  Google Scholar 

  77. Grantham JJ and Slusher SL. Management of renal cystic disorders. In: Suki WN, Massry SG, Therapy of Renal Diseases and Related Disorders. Boston: Martinus Nijhoff, 1984, 383 – 404.

    Google Scholar 

  78. Gregoire JR, Torres VE, Holley KE, Farrow GM. Renal epithelial hyperplastic and neoplastic proliferation in autosomal dominant polycystic kidney disease.

    Google Scholar 

  79. Grossman H, Winchester PH, Chisari FV. Roentgenographic classification of renal cystic disease. American Journal of Roentgenology 1968, 104, 319 – 331.

    CAS  Google Scholar 

  80. Grünfeld JP, Albouze G, Jungers P, Landais P, Dana A, Droz D, Moynot A, Lafforgue B, Boursztyn E, Franco D. Liver changes and complications in adult polycystic kidney disease In: Bach JF, Crosnier J, Funck-Bretano JL, Grünfeld JP, Advances in Nephrology. Chicago: Year Book Medical Publishers, 1985, 1 – 20.

    Google Scholar 

  81. Hale JE, Morgan MN. Simple renal cysts. Postgraduate Medical Journal 1969, 45, 767 – 772.

    PubMed  CAS  Google Scholar 

  82. Hartnett M, Bennett W. External Manifestations of cystic renal disease. In: Gardner KD Jr, ed., Cystic disease of the kidney. New York: Wiley, 1976, 201 – 219.

    Google Scholar 

  83. Hatfield PM, Pfister RC. Adult polycystic disease of the kidney: A follow-up of 284 patients. Journal of the American Medical Association 1972, 222, 1527 – 1531.

    PubMed  CAS  Google Scholar 

  84. Heggo O. A microdissection study of cystic disease of the kidneys in adults. Journal of Pathology 1966, 91, 311 – 315.

    CAS  Google Scholar 

  85. Hellerstedt WL, Johnson WJ, Ascher N, Kjellstrand CM, Knutson R, Shapiro FL and Sterioff S. Survival rates of 2,728 patients with end-stage renal disease. Mayo Clinic Proceedings 1984, 59, 776 – 783.

    PubMed  CAS  Google Scholar 

  86. Higgins CC. Bilateral polycystic kidney disease. American Medical Association Archives of Surgery 1952, 65, 318 – 329.

    CAS  Google Scholar 

  87. Hossack KF, Leddy CL, Johnson AM, Schrier RW, Gabow PA. Echocardiographic abnormalities in autosomal dominant polycystic kidney disease. New England Journal of Medicine 1988, 319, 907 – 912.

    PubMed  CAS  Google Scholar 

  88. Hricak H, Crooks L, Sheldon P and Kaufman L. Nuclear magnetic resonance imaging of the kidney. Radiology 1983, 146, 425 – 432.

    PubMed  CAS  Google Scholar 

  89. Huseman R, Grady A, Welling D, Grantham J. Macropuncture study of polycystic disease in adult human kidneys. Kidney International 1980, 18, 375 – 385.

    PubMed  CAS  Google Scholar 

  90. Iglesias CG, Torres VE, Offord KP, Holley KE, Beard CM, Kurland LT. Epidemio¬logy of adult polycystic kidney disease, Olmsted County, Minnesota: 1935–1980. American Journal of Kidney Diseases 1983, 2, 630 – 639.

    PubMed  CAS  Google Scholar 

  91. Ishibashi A. Renal imagings in the diagnosis of polycystic kidney disease. Japan Journal of Nephrology 1981, 23, 1003 – 1013.

    CAS  Google Scholar 

  92. Ito Y, Singh S and Pollack VE. General features of autosomal dominant polycystic kidney disease: Efficacy of dialysis treatment. In: Grantham JJ, Gardner KD Jr, Problems in Diagnosis and Management of Polycystic Kidney Disease. Kansas City: PKR Foundation, 1985, 160 – 168.

    Google Scholar 

  93. Kääriänen H. Polycystic kidney disease in children: A genetic and epidemiological study of 82 Finnish patients. Journal of Medical Genetics 1987, 24, 474 – 481.

    Google Scholar 

  94. Kaehny W, Bell P, Earnest M Stears J, Gabow PA. Family clustering of intracranial aneurysms (ICA) in autosomal dominant polycystic kidney disease (ADPKD). The American Society of Nephrology 1986, 19, 47A.

    Google Scholar 

  95. Kaehny WD, Tangel DJ, Johnson AM, Schrier, Gabow PA. Uric acid handling in autosomal dominant polycystic kidney disease. Kidney International 1988, Abstr., 33, 211.

    Google Scholar 

  96. Kaplan BS, Rabin I, Nogrady MB and Drummond KN. Autosomal dominant polycystic renal disease in children. Journal of Pediatrics 1977, 90, 782 – 783.

    PubMed  CAS  Google Scholar 

  97. Kaye C, Lewis PR. Congenital appearance of adult-type (autosomal dominant) polycystic kidney disease. Journal Pediatrics 1974, 85, 807 – 810.

    CAS  Google Scholar 

  98. Kenner CH, Evan AP, Blomgren P, Aronoff GR, Luft FC. Effect of protein intake on renal function and structure in partially nephrectomized rats. Kidney International 1985, 27, 739 – 750.

    PubMed  CAS  Google Scholar 

  99. Kimberling WJ, Fain PR, Kenyon JB, Goldgar D, Sujansky E and Gabow PA. Linkage heterogeneity of autosomal dominant polycystic kidney disease. New England Journal of Medicine 1988, 319, 913 - 918.

    PubMed  CAS  Google Scholar 

  100. Kleinman HK, Klebe RJ, Martin GR. Role of collagenous matrices in the adhesion and growth of cells. Journal of Cell Biology 1981, 88, 473 – 485.

    PubMed  CAS  Google Scholar 

  101. Kolibash AJ, Kilman JW, Bush CA, Ryan JM, Fontana ME, Wooley CF. Evidence for progression from mild to severe mitral regurgitation in mitral valve prolapse. American Journal of Cardiology 1986, 58, 762 – 767.

    PubMed  Google Scholar 

  102. Kramer P, Broyer M, Brunner FP, Brynger H, Donckerwolcke RA, Jacobs C, Selwood NH, Wong AJ. Combined report on regular dialysis and transplantation in Europe. In: Davison A and Guillou PJ. Proceedings of the European Dialysis and Transplant Association. London: Pitman Press, 1982, 4 – 59.

    Google Scholar 

  103. Kramer SA, Hoffman AD, Aydin G, Kelalis P. Simple renal cysts in children. Journal of Urology 1982, 128, 1259 – 1261.

    PubMed  CAS  Google Scholar 

  104. Kupin W, Norris C, Levin NW, Johnson C, Joseph C. Incidence of diverticular disease in patients with polycystic kidney disease (PCKD). The International Society of Nephrology 1987, 43.

    Google Scholar 

  105. Kutcher R, Schneider M and Gordon DH. Calcification in polycystic disease. Radiology 1977 122, 77 – 80.

    PubMed  CAS  Google Scholar 

  106. Lalli AE and Poirer VC. Urographic analysis of the development of polycystic kidney disease. American Journal of Roentgenology 1973, 119, 705 – 709.

    CAS  Google Scholar 

  107. Lambert PP. Polycystic disease of the kidney: A review. Archives of Pathology 1947, 44, 34 – 58.

    PubMed  CAS  Google Scholar 

  108. Lawson TL, McClennan BL and Shirkhoda A. Adult polycystic kidney disease: Ultrasonagraphic and computed tomographic appearance. JCU 1978, 6, 297 – 302.

    PubMed  CAS  Google Scholar 

  109. Leung AWL, Bydder GM, Steiner RE, Bryant DJ and Young IR. Magnetic resonance imaging of the kidneys. AGR 1984, 143, 1215 – 1227.

    CAS  Google Scholar 

  110. Levey AS, Pauker SG, Kassirer JP. Occult intracranial aneurysms in polycystic kidney disease: When is cerebral arteriography indicated? New England Journal of Medicine 1983, 308, 986 – 994.

    PubMed  CAS  Google Scholar 

  111. Levine E. Diagnosis of autosomal dominant polycystic kidney disease: Complications and radiologic recognition. In: Grantham JJ, Gardner KD Jr, Problems in Diagnosis and Management of Polycystic Kidney Disease. Kansas City: PKR Foundation, 1985, 34 – 39.

    Google Scholar 

  112. Levine E and Grantham JJ. The role of computed tomography in the evaluation of adult polycystic kidney disease. American Journal of Kidney Diseases 1981, 1, 99 – 105.

    PubMed  CAS  Google Scholar 

  113. Lieberman E, Salinas-Madrigal L, Gwinn JL, Brennan LP, Fine RN, Landing BH. Infantile polycystic disease of the kidneys and liver: Clinical, pathological and radiological correlations and comparison with congenital hepatic fibrosis. Medicine 1971, 50, 277 – 318.

    PubMed  CAS  Google Scholar 

  114. Lipshutz DE, Easterling RE. Spontaneous perforation of the colon in chronic renal failure. Archives of Internal Medicine 1973, 132, 758 – 759.

    Google Scholar 

  115. Loh JP, Haller JO, Kassner EG, Aloni A, Glassberg K. Dominantly- inherited polycystic kidneys in infants. Association with hypertrophic pyloric stenosis. Pediatric Radiology 1977, 6, 27 – 31.

    PubMed  CAS  Google Scholar 

  116. London RD, Malik AA, Train JS. Infection in a patient with polycystic kidney and liver disease: Noninvasive localization and treatment. American Journal of Medicine 1988, 84, 1082 – 1085.

    PubMed  CAS  Google Scholar 

  117. Lundin PM, Oglow I. Polycystic kidneys in newborns, infants and children. A clinical and pathological study. Acta Paediatrica 1961, 50, 185 – 200.

    PubMed  CAS  Google Scholar 

  118. Main D, Mennuti MT, Cornfield D, Coleman B. Prenatal diagnosis of adult polycystic kidney disease. Lancet 1983, 2, 337 – 338.

    PubMed  CAS  Google Scholar 

  119. Martin DC and Goodwin WE. Renal trasplantation in polycystic renal disease. Journal of the American Medical Association 1967, 202, 654 – 657.

    PubMed  CAS  Google Scholar 

  120. Martinez-Maldonado M, Yium JJ, Eknoyan G, Suki WN. Adult polycystic kidney disease. Studies of the defect in urine concentration. Kidney International 1972, 2, 109 – 113.

    Google Scholar 

  121. Matsumura M, Wada H, Nojiri K, Ohwada A and Shinoda T. Unruptured intracranial aneurysms in polycystic kidney disease. Acta Neurochir 1986, 79, 94 – 99.

    CAS  Google Scholar 

  122. Mehrizi A, Rosenstein J, Pusch A., Askin JA and Taussig HB. Myocardial infarction and endocardial fibroelastosis in children with polycystic kidneys. Bulletin of the Johns Hopkins Hospital 1964, 115, 92 – 98.

    PubMed  CAS  Google Scholar 

  123. Mendez R, Mendez RG, Payne JE and Berne TV. Renal transplantation: In adults with end stage polycystic kidney disease. Urology 1975, 5, 26 – 28.

    PubMed  CAS  Google Scholar 

  124. Milutinovic J and Agodoa L. Potential causes and pathogenesis in autosomal dominant polycystic kidney disease. Nephron 1983, 33, 139 – 144.

    PubMed  CAS  Google Scholar 

  125. Milutinovic J, Fialkow LJ, Agodoa LY, Phillips LA, Rudd TG, Bryant JI. Autosomal dominant polycystic kidney disease: symptoms and clinical findings. Quarterly Journal of Medicine 1984, 53, 511 – 522.

    PubMed  CAS  Google Scholar 

  126. Milutinovic J, Fialkow PJ, Agodoa LY, Phillips LA, Bryant JI. Fertility and pregnancy complications in women with autosomal dominant polycystic kidney disease. Obstetrics and Gynecology 1983, 61, 566 – 570.

    PubMed  CAS  Google Scholar 

  127. Milutinovic J, Fialkow PJ, Rudd TG, Agodoa LY, Phillips LA, Bryant JI. Liver cysts in patients with autosomal dominant polycystic kidney disease. American Journal of Medicine 1980, 68, 741 – 744.

    PubMed  CAS  Google Scholar 

  128. Mir S, Rapola J, Koskinies O. Renal cysts in pediatric autopsy material. Nephron 1983, 33, 189 – 195.

    PubMed  CAS  Google Scholar 

  129. Mohr JP, Kistler JP, Zabramski JM, Spetzler RF and Barnett HJM. Intracranial aneur¬ysms. In: Barnett HJM, Stein BM, Mohr JP and Yatsu FM, Stroke. New York: Churchill Livingstone, 1986, 643 – 677.

    Google Scholar 

  130. Muther RS, Bennett WM. Cyst fluid antibiotic concentrations in polycystic kidney disease: Differences between proximal and distal cysts. Kidney International 1981, 20, 519 – 522.

    PubMed  CAS  Google Scholar 

  131. Nash DA. Hypertension in polycystic kidney disease without renal failure. Archives of Internal Medicine 1977, 137, 1571 – 1575.

    PubMed  Google Scholar 

  132. Ng RCK and Suki WN. Renal cell carcinoma occirring in a polycystic kidney of a transplant recipient. Journal of Urology 1980, 124, 710 – 712.

    PubMed  CAS  Google Scholar 

  133. Novick AC. General features of autosomal dominant kidney disease: Renal transplantation. In: Grantham JJ, Gardner KD Jr, Problems in Diagnosis and Management of Polycystic Kidney Disease. Kansas City: PKR Foundation, 1985, 172 – 179.

    Google Scholar 

  134. Oken DE. Chronic renal diseases and pregnancy: A review. American Journal Obstetrics and Gynecology 1966, 94, 1023 – 1043.

    CAS  Google Scholar 

  135. Oldrizzi L, Rugiu C, Valvo E, Lupo A, Loschiavo C, Gammaro L, Tessitore N, Fabris A, Panzetta G, Maschio G. Progression of renal failure in patients with renal disease of diverse etiology on protein-restricted diet. Kidney International 1985, 27, 553 – 557.

    PubMed  CAS  Google Scholar 

  136. Oppenheimer GD. Polycystic disease of the kidney. Annals of Surgery 1984, 100, 1136 – 1158.

    Google Scholar 

  137. Oreopoulos DG, Bell TK, McGeown MG. Liver function and the liver scan in patients with polycystic kidney disease. British Journal of Urology 1971, 43, 273 – 276.

    PubMed  CAS  Google Scholar 

  138. Osathanondh V, Potter EL. Pathogenesis of polycystic kidneys: Type 3 due to multiple abnormalities of development. Archives of Pathology 1964, 77, 485 – 501.

    PubMed  CAS  Google Scholar 

  139. Pechan W, Novick AC, Braun WE, Nakamoto S, Popowniak K, Steinmuller D. Management of end stage polycystic kidney disease with renal transplantation. Journal of Urology 1981, 125, 622 – 624.

    PubMed  CAS  Google Scholar 

  140. Perey DYE, Herdman RC, Good RA. Polycystic renal disease: A new experimental model. Science 1967, 158, 494 – 496.

    PubMed  CAS  Google Scholar 

  141. Potter EL. Normal and Abnormal Development of the Kidney. Chicago: Year Book Publishers, 1972.

    Google Scholar 

  142. Poutasse EF, Gardner WJ, McCormack LJ. Polycystic kidney disease and intracranial aneurysm. Journal of the American Medical Association 1954, 154, 741 – 743.

    PubMed  CAS  Google Scholar 

  143. Pretorius DH, Lee ME, Manco-Johnson ML, Weingast GR, Sedman AB, Gabow PA. Diagnosis of autosomal dominant polycystic kidney disease in utero and in the young infant. Journal of Ultrasound Medicine 1987, 6, 249 – 255.

    CAS  Google Scholar 

  144. Preuss H, Geoly K, Johnson M, Chester A, Kliger A, Schreiner G. Tubular function in adult polycystic kidney disease. Nephron 1979, 24, 198 – 204.

    PubMed  CAS  Google Scholar 

  145. Proesmans W, Van Damme B, Casaer P, Marchal G. Autosomal dominant polycystic kidney disease in the neonatal period: Association with cerebral arteriovenous malformation. Pediatrics 1982, 70, 971 – 975.

    CAS  Google Scholar 

  146. Reeders ST, Breuning MH, Davies KE, Nicholls RD, Jarman AP, Higgs DR, Pearson PL, Weatherall DJ. A highly polymorphic DNA marker linked to adult polycystic disease on chromosome 16. Nature 1985, 317, 542 – 544.

    PubMed  CAS  Google Scholar 

  147. Reeders ST, Zeeres K, Gal A, Propping P, Waldherr R, Davies KE, Zerres K, Hogenkamp T, Schmidt W, Dolata MM, Weatherall DJ. Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probe. Lancet 1986, 2, 6 – 8.

    PubMed  CAS  Google Scholar 

  148. Reubi FC. General features of autosomal dominant polycystic kidney disease: Hypertension. In: Grantham JJ, Gardner KD Jr, Problems in Diagnosis and Management of Polycystic Kidney Disease. Kansas City: PKR Foundation, 1985, 121 – 128.

    Google Scholar 

  149. Ritter R, Siafarikas K. Hemihypertrophy in a boy with renal polycystic disease: Varied patterns of presentation of renal polycystic disease in his family. Pediatric Radiology 1976, 5, 98 – 102.

    PubMed  CAS  Google Scholar 

  150. Ross DG and Travers H. Infantile presentation of adult type polycystic kidney disease in a large kindred. Journal of Pediatrics 1975, 87, 760 – 763.

    PubMed  CAS  Google Scholar 

  151. Rostand SG, Kirk KA, Rutsky EA, Pate BA. Racial differences in the incidence of treatment for end-stage renal disease. New England Journal of Medicine 1982, 306, 1276 – 1279.

    PubMed  CAS  Google Scholar 

  152. Rutkai K and Czeizel A. Obstetric features of mothers giving birth to infants with polycystic disease of the kidneys. Archivse of Gynecology 1982, 231, 235 – 240.

    CAS  Google Scholar 

  153. Salvatierra O Jr, Wolfson M, Cochrum K, Amend W, Belzer FO. End stage polycystic kidney disease: Management by renal transplantation and selective use of preliminary nephrectomy. Journal of Urology 1976, 115, 5 – 7.

    PubMed  Google Scholar 

  154. Sanfilippo FP, Vaughn WK, Peters TG, Bollinger RR, Spees EK. Transplantation for polycystic kidney disease. Transplantation 1983, 36, 54 – 59.

    PubMed  CAS  Google Scholar 

  155. Scheff RT, Zuckerman G, Harter H, Delmez J, Koehler R. Diverticular disease in patients with chronic renal failure due to polycystic kidney disease. Annals of Internal Medicine 1980, 92, 202 – 204.

    PubMed  CAS  Google Scholar 

  156. Schmike RN. Hereditary features of autosomal dominant polycystic kidney disease: A genetic approach. In: Grantham JJ, Gardner KD Jr, Problems in Diagnosis and Management of Polycystic Kidney Disease. Kansas City: PKR Foundation, 1985, 187 – 193.

    Google Scholar 

  157. Schwab SJ. Efficacy of chloramphenicol in refractory cyst infections in autosomal dominant polycystic kidney disease. American Journal of Kidney Diseases 1985, 5, 258 – 261.

    PubMed  CAS  Google Scholar 

  158. Schwab SJ. General features of autosomal dominant polycystic kidney disease: Experience with chloramphenicol in refractory renal infection. In: Grantham JJ and Gardner KD Jr, Problems in Diagnosis and Management of Polycystic Kidney Disease. Kansas City: PKR Foundation, 1985, 106 – 110.

    Google Scholar 

  159. Schwab SJ, Bander SJ, Klahr S. Renal infection in autosomal dominant polycystic kidney disease. American Journal of Medicine 1987, 82, 714 – 718.

    PubMed  CAS  Google Scholar 

  160. Schwab SJ, Hinthorn D, Diederich D, Cuppage F, Grantham JJ. pH- dependent accumulation of clindamycin in a polycystic kidney. American Journal of Kidney Diseases 1983, 3, 63 – 66.

    PubMed  CAS  Google Scholar 

  161. Schwab SJ,Weaver ME. Penetration of trimethoprim and sulfamethoxazole into cyst in patients with autosomal dominant polycystic kidney disease. American Journal of Kidney Diseases 1986, 7, 434 – 438.

    Google Scholar 

  162. Sedman A, Bell P, Manco-Johnson M, Schrier R, Warady BA, Heard EO, Butler-Simon N, Gabow P. Autosomal dominant polycystic kidney disease in childhood: A longitudinal study. Kidney International 1987, 31, 1000 – 1005.

    CAS  Google Scholar 

  163. Segal AJ, Spataro RF, Barbaric ZL. Adult polycystic kidney disease: A review of 100 cases. Journal of Urology 1977, 118, 711 – 713.

    PubMed  CAS  Google Scholar 

  164. Shokeir MHK. Expression of "adult" polycystic renal disease in the fetus and newborn. Clinical Genetics 1978, 14, 61 – 72.

    PubMed  CAS  Google Scholar 

  165. Sholder AJ, Grayhack JT. General features of autosomal dominant polycystic kidney disease: Management of pain and hemorrhage. In: Grantham JJ and Gardner KD Jr, Problems in Diagnosis and Management of Polycystic Kidney Disease. Kansas City: PKR Foundation, 1985, 111 – 120.

    Google Scholar 

  166. Siegel MJ and McAlister WH. Simple cysts of the kidney in children. Journal of Urology 1980, 123, 75 – 78.

    PubMed  CAS  Google Scholar 

  167. Simon HB, Thompson GJ. Congenital renal polycystic disease: A clinical and therapeutic study of three hundred sixty-six cases. Journal of the American Medical Association 1955, 159, 657 – 662.

    PubMed  CAS  Google Scholar 

  168. Stickler GB and Kelalis AP. Polycystic kidney disease recognition of the "adult form" (autosomal dominant) in infancy. Mayo Clinic Proceedings 1975, 50, 547 – 481.

    PubMed  CAS  Google Scholar 

  169. Stillwell TJ, Gomez MR, Kelalis PP. Renal lesions in tuberous sclerosis. Journal of Urology 1987, 138, 477 – 481.

    PubMed  CAS  Google Scholar 

  170. Sugimoto T, Rosansky SJ. The incidence of treated end-stage renal disease in the eastern United States: 1973–1979. American Journal of Public Health 1984, 74, 14 – 17.

    PubMed  CAS  Google Scholar 

  171. Sweet R, Keane WF. Perinephric abscess in patients with polycystic kidney disease undergoing chronic hemodialysis. Nephron 1979, 23, 237 – 240.

    PubMed  CAS  Google Scholar 

  172. Thomas JO, Cox AJ Jr, DeEds F. Kidney cysts produced by diphenylamine. Stanford Medical Bulletin 1957, 15, 90 – 93.

    PubMed  CAS  Google Scholar 

  173. Thompson JS, Thompson MW. Patterns of single-gene inheritance. In: Thompson JS and Thompson MW, Genetics in Medicine. Philadelphia: WB Saunders Company, 1986, 44 – 77.

    Google Scholar 

  174. Torres VE, Erickson SB, Smith LH, Wilson DM, Hattery RR, Segura JW. The association of nephrolithiasis and autosomal dominant polycystic kidney disease. American Journal of Kidney Diseases 1988, 11, 318 – 325.

    PubMed  CAS  Google Scholar 

  175. Torres VE, Holley KE, Offord KP. General features of autosomal dominant polycystic kidney disease: Epidemiology. In: Grantham JJ, Gardner KD Jr, Problems in Diagnosis and Management of Polycystic Kidney Disease. Kansas City: PKR Foundation, 1985, 49 – 69.

    Google Scholar 

  176. Valvo E, Gammaro L Tessitore N, Panzetta G, Lupo A, Loschiavo C, Oldrizzi L, Fabris A, Rugiu C, Ortalda V and Maschio G. Hypertension of polycystic kidney disease: Mechanisms and hemodynamic alterations. American Journal of Nephrology 1985, 5, 176 – 181.

    PubMed  CAS  Google Scholar 

  177. Wakabayashi T, Fujita S, Ohbora Y, Suyama T, Tamaki N, Matsumoto S. Polycystic kidney disease and intracranial aneurysms: Early angiographic diagnosis and early operation for the unruptured aneurysms. Journal of Neurosurgery 1983, 58, 488 – 491.

    PubMed  CAS  Google Scholar 

  178. Walker FC Jr, Loney LC, Root ER, Melson GL, McAlister WH, Cole BR. Diagnostic evaluation of adult polycystic kidney disease in childhood. American Journal of Roentgenology 1984, 142, 1273 – 1277.

    PubMed  Google Scholar 

  179. Ward JN, Draper JW, Lavengood RW Jr. A clinical review of polycystic kidney disease in 53 patients. Journal of Urology 1967, 98, 48 – 53.

    PubMed  CAS  Google Scholar 

  180. Wiebers DO, Whisnant JP and O’Fallon WM. The natural history of unruptured intracranial aneurysms. New England Journal of Medicine 1981, 304 696 – 698.

    PubMed  CAS  Google Scholar 

  181. Williams G, Mitcheson HD and Castro JE. Transplantation for polycystic kidney disease. Urology 1978, 12, 628 – 630.

    PubMed  CAS  Google Scholar 

  182. Wilson PD, Schrier RW, Breckon RD, Gabow PA. A new method for studying human polycystic kidney disease epithelia in culture. Kidney International 1986, 30, 371 – 378.

    PubMed  CAS  Google Scholar 

  183. Wolf GB, Rosenfield AT, Taylor KJW, Rosenfield N, Gottlieb S, Hsia YE. Presymptomatic diagnosis of adult onset polycystic kidney disease by ultrasonography. Clinical Genetics 1978, 14, 1 – 7.

    PubMed  CAS  Google Scholar 

  184. Wolfson M, Amend WJC, Cochrum KC, Belzer FO, Salvatierra O Jr. Transplantation in end-stage renal kidney disease. Dialysis and Transplantation 1976,5,66,102.

    Google Scholar 

  185. Zerres K, Weiss H, Bulla M, Roth B. Prenatal diagnosis of an early manifestation of autosomal dominant adult-type polycystic kidney disease (letter). Lancet 1982, 2, 988.

    PubMed  CAS  Google Scholar 

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Gabow, P.A. (1990). Autosomal Dominant Polycystic Kidney Disease. In: Gardner, K.D., Bernstein, J. (eds) The Cystic Kidney. Developments in Nephrology, vol 27. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-0457-6_12

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