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C1q nephropathy in association with Gitelman syndrome: a case report

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Abstract

There have been rare reports of glomerulopathies developing in patients with Bartter syndrome (BS) and its milder variant, Gitelman syndrome (GS). We present the first case of C1q nephropathy (C1qN) in an African American child with GS. This child was diagnosed with GS at 9 years of age and subsequently developed nephrotic range proteinuria 3 years later. Renal biopsy revealed mesangial hypercellularity and focal segmental glomerulosclerosis (FSGS). The segmental lesions were generally located at the vascular pole. Dominant C1q (2+) staining along with IgG (1–2+) was demonstrated in the mesangium, which correlated with scattered electron dense mesangial deposits demonstrated by electron microscopy. Treatment with an angiotensin-converting enzyme inhibitor led to an improvement in proteinuria to near-normal values (urine protein/creatinine ratio down to 0.5), but the creatinine clearance declined to approximately 58 ml/min/1.73 m2. This case highlights the possible association between the milder hypokalemic tubulopathy, GS, and glomerular disease, including C1qN. Prompt evaluation of proteinuria with renal biopsy in these patients is recommended to detect significant glomerular pathology. Further research is needed to define risk factors for this complication.

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References

  1. Su IH, Frank R, Gauthier BG, Valderrama E, Simon DB, Lifton RP, Trachtman H (2000) Bartter syndrome and focal segmental glomerulosclerosis: a possible link between two diseases. Pediatr Nephrol 14:970–972

    Article  CAS  Google Scholar 

  2. Calò LA, Marchini F, Davis PA, Rigotti P, Pagnin E, Semplicini A (2003) Kidney transplant in Gitelman’s syndrome. Report of the first case. J Nephrol 16:144–147

    PubMed  Google Scholar 

  3. Bonfante L, Davis PA, Spinello M, Antonello A, D’Angelo AD, Semplicini A, Calo L (2001) Chronic renal failure, end-stage renal disease, and peritoneal dialysis in Gitelman’s syndrome. Am J Kidney Dis 38:165–168

    Article  CAS  Google Scholar 

  4. Bulucu F, Vural A, Yenicesu M, Caglar K (1998) Association of Gitelman’s syndrome and focal glomerulosclerosis. Nephron 79:244

    Article  CAS  Google Scholar 

  5. Blethen SL, Van Wyck JJ, Lorentz WB, Jennette JC (1985) Reversal of Bartter’s syndrome by renal transplantation in a child with focal, segmental glomerular sclerosis. Am J Med Sci 289:31–36

    Article  CAS  Google Scholar 

  6. Sardani Y, Qin K, Haas M, Aronson AJ, Rosenfield RL (2003) Bartter syndrome complicated by immune complex nephropathy. Case report and literature review. Pediatr Nephrol 18:913–918

    Article  Google Scholar 

  7. Cortesi C, Foglia PEG, Bettinelli A, Bianchetti MG (2003) Prevention of cardiac arrhythmias in pediatric patients with normotensive-hypokalemic tubulopathy. Current attitude among European pediatricians. Pediatr Nephrol 18:729–730

    Article  Google Scholar 

  8. Pachulski RT, Lopez F, Sharaf R (2005) Gitelman’s not-so-benign syndrome. New Engl J Med 353:850–851

    Article  CAS  Google Scholar 

  9. Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB (2001) Gitelman’s syndrome revisited: an evaluation of symptoms and health-related quality of life. Kidney Int 59:710–717

    Article  CAS  Google Scholar 

  10. Doi T, Kanatsu K, Suehiro F, Nagai H, Yoshida H, Hamashima Y (1987) Clinicopathological study of patients with mesangial isolated C3d deposition in various glomerular diseases. Nephron 46:188–193

    Article  CAS  Google Scholar 

  11. Cannon PJ, Leeming JM, Sommers SC, Winters RW, Laragh JH (1968) Juxtaglomerular cell hyperplasia and secondary hyperaldosteronism (Bartter’s syndrome): a re-evaluation of the pathophysiology. Medicine (Baltimore) 47:107–131

    Article  CAS  Google Scholar 

  12. Rudin A (1988) Bartter’s syndrome. A review of 28 patients followed for 10 years. Acta Med Scand 224:165–171

    Article  CAS  Google Scholar 

  13. Fogo AB (2001) Progression and potential regression of glomerulosclerosis. Kidney Int 59:804–819

    Article  CAS  Google Scholar 

  14. Wolf G, Butzmann U, Wenzel UO (2003) The renin-angiotensin system and progression of renal disease: from hemodynamics to cell biology. Nephron Physiol 93:3–13

    Article  Google Scholar 

  15. Seikaly MG, Arant BS Jr, Seney FD Jr (1990) Endogenous angiotensin concentrations in specific intrarenal fluid compartments of the rat. J Clin Invest 86:1352–1357

    Article  CAS  Google Scholar 

  16. Jennette JC, Hipp CG (1985) C1q nephropathy: a distinct pathologic entity usually causing nephrotic syndrome. Am J Kidney Dis 6:103–110

    Article  CAS  Google Scholar 

  17. Jennette JC, Falk RJ (2001) C1q nephrology. In: Massry SG, Glassock RJ (eds) Massry and Glassock’s textbook of nephrology, 4th edn. Lippincott, Williams & Wilkins, Philadelphia, Pennsylvania, pp 730–733

    Google Scholar 

  18. Markowitz GS, Schwimmer JA, Stokes MB, Nasr S, Seigle RL, Valeri AM, D’Agati VD (2003) C1q nephropathy: a variant of focal segmental glomerulosclerosis. Kidney Int 64:1232–1240

    Article  CAS  Google Scholar 

  19. Shappell SB, Myrthil G, Fogo A (1997) An adolescent with relapsing nephrotic syndrome: minimal-change disease versus focal-segmental glomerulosclerosis versus C1q nephropathy. Am J Kidney Dis 29:966–970

    Article  CAS  Google Scholar 

  20. Iskandar SS, Browning MC, Lorentz WB (1991) C1q nephropathy: a pediatric clinicopathologic study. Am J Kidney Dis 18:459–465

    Article  CAS  Google Scholar 

  21. Lau KK, Gaber LW, Santo NM, Wyatt RJ (2005) C1q nephropathy: features at presentation and outcome. Pediatr Nephrol 20:744–749

    Article  Google Scholar 

  22. Kersnik Levart T, Kenda RB, Cavic MA, Ferlung D, Hvala A, Vizjak A (2005) C1q nephropathy in children. Pediatr Nephrol 20:1756–1761

    Article  Google Scholar 

  23. Guay-Woodford LM (1998) Bartter syndrome: unraveling the pathophysiologic enigma. Am J Med 105:151–161

    Article  CAS  Google Scholar 

  24. Schurman SJ, Perlman SA, Sutphen R, Campos A, Garin EH, Cruz DN, Shoemaker LR (2001) Genotype/phenotype observations in African Americans with Bartter syndrome. J Pediatr 139:105–110

    Article  CAS  Google Scholar 

  25. Suthanthiran M, Khanna A, Cukran D, Adhikarla R, Sharma VK, Singh T, August P (1998) Transforming growth factor-β1 hyperexpression in African American end-stage renal disease patients. Kidney Int 53:639–644

    Article  CAS  Google Scholar 

  26. Zelikovic I (2003) Hypokalaemic salt-losing tubulopathies: an evolving story. Nephrol Dial Transplant 18:1696–1700

    Article  CAS  Google Scholar 

  27. Zelikovic I, Szargel R, Hawash A, Labay V, Hatib I, Cohen N, Nakhoul F (2003) A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. Kidney Int 63:24–32

    Article  CAS  Google Scholar 

  28. Jeck N, Konrad M, Peters M, Weber S, Bonzel KE, Seyberth HW (2000) Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. Pediatr Res 48:754–758

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Pediatrics, Medical College of Georgia, BG 2071, 1120 15th St., Augusta, GA, 30912-3795, USA

    Coral Hanevold

  2. Department of Pathology, Medical College of Georgia, Augusta, GA, 30912-3795, USA

    Rory Dalton

  3. Department of Pediatrics, University of Maryland, Baltimore, MD, USA

    Ayesa Mian

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  1. Coral Hanevold
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  2. Ayesa Mian
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  3. Rory Dalton
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Correspondence to Coral Hanevold.

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Hanevold, C., Mian, A. & Dalton, R. C1q nephropathy in association with Gitelman syndrome: a case report. Pediatr Nephrol 21, 1904–1908 (2006). https://doi.org/10.1007/s00467-006-0261-9

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  • DOI: https://doi.org/10.1007/s00467-006-0261-9

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