Nail Patella-Like Renal Lesions in the Absence of Skeletal Abnormalities

doi:10.1016/S0272-6386(82)80060-7

American Journal of Kidney Diseases

Volume 1, Issue 4, January 1982, Pages 237-240

https://doi.org/10.1016/S0272-6386(82)80060-7 Get rights and content

Glomerular lesions typical of the nail-patella syndrome were found in the renal biopsy of a patient with microscopic hematuria. Extensive clinical and radiologic examinations failed to reveal skeletal or other abnormalities characteristic of this syndrome. The possibility that the typical ultrastructural changes of the nailpatella syndrome may be present in other renal diseases must be considered.

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Collagen Type III Glomerulopathy
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The condition can progress to end-stage kidney disease, requiring dialysis or renal transplantation. While initial reports of CG were largely in patients of Asian descent, subsequent cases in patients of European descent were published.1,3–7 Approximately 100 cases have been reported in the literature (Supplementary Table S1).
Collagen Type III Glomerulopathies
2012, Advances in Chronic Kidney Disease
Citation Excerpt :
These investigators ultimately termed the lesion collagenofibrotic glomerulopathy. It has since been documented predominantly in Japan,4-7 although at this time, reports from Europe, South America, North America, and other countries in Asia indicate that this is an uncommon disorder with worldwide presence.8-14 Although type III collagen is widely distributed as a component of the extracellular matrix, it is not found in normal glomeruli; however, it is a component of many diverse glomerular lesions as they undergo fibrosis.4
The 2 rare disorders characterized by the pathological accumulation of collagen type III in glomeruli are discussed. These are collagenofibrotic glomerulopathy, also known as collagen type III glomerulopathy, and the nail-patella syndrome. Although there are similarities in abnormal morphology, with type III collagen in mesangium and/or capillary walls, there is no genetic or pathogenic link to them. Collagenofibrotic glomerulopathy presents either in childhood, often with a family history suggesting autosomal recessive inheritance, or in adults as a sporadic occurrence. Proteinuria is the typical manifestation, with progression to ESRD in approximately 10 years. Although there is markedly elevated serum precursor collagen type III protein in the circulation, the usual manner of diagnosis is with kidney biopsy, which discloses type III collagen in subendothelial aspects of capillary walls and often in the mesangial matrix. Glomerular involvement in the nail-patella syndrome invariably presents in a patient with an established diagnosis of this multisystem disorder with orthopedic and cutaneous manifestations. It is owing to mutations in the gene LMX1B. Although the lesion may be asymptomatic, it is usually manifested by proteinuria. Structural lesions are of collagen type III within glomerular basement membranes, different in distribution to collagenofibrotic glomerulopathy. The clinical course is variable.
Two Brothers in One Chinese Family With Collagen Type III Glomerulopathy
2007, American Journal of Kidney Diseases
Citation Excerpt :
The diameter of deposited fibers in our 2 patients was from 60 to 100 nm and was consistent with prior reports. Although reports showed that slight peripheral staining of type I collagen peptide could be present,1-16 the hallmark of collagen type III glomerulopathy is strong staining with type III collagen in glomeruli. Collagen fiber depositing in the GBM could also be found in patients with nail-patella syndrome, an autosomal dominant disease marked by proteinuria, hypertension, and kidney failure.
Collagenofibrotic Glomerulopathy: Clinicopathologic Overview of a Rare Glomerular Disease
2007, American Journal of Kidney Diseases
Collagenofibrotic glomerulopathy is an idiopathic glomerular disease characterized by massive accumulation of atypical type III collagen fibrils within the mesangial matrix and subendothelial space and marked increase in serum type III procollagen peptide levels. The disease is extremely rare, with most cases reported in Japan. The cause and pathogenesis are entirely elusive. Some cases were described in families; hence, a genetic mode of transmission, mostly by an autosomal recessive trait, has been assumed. Controversy exists about whether the glomerulopathy is a primary renal disease or manifestation of systemic disease. Proteinuria is a cardinal manifestation of this disease. Clinically, patients present with edema and hypertension and often progress to end-stage renal disease. A definite diagnosis can be established when typical histological findings are supported by immunohistochemistry for specific collagen types and electron microscopy with special staining methods. No specific treatment is available.
Nail-patella syndrome and IgA nephropathy in a Chinese woman
1999, Pathology
Nail-patella syndrome (NPS), also known as hereditary onycho-osteodysplasia, is an autosomal dominant pleiotropic disorder characterised by nailbed dysplasia or hypoplasia, absent or hypoplastic patellae, iliac horns and deformation or luxation of the radial head. Nephropathy is a known serious complication associated with NPS. In this report, we describe an adult Chinese woman with the clinical and radiological features of NPS who presented with the nephrotic syndrome. Renal biopsy disclosed focal segmental glomerulosclerosis on light microscopy, while immunofluorescence revealed predominant staining for IgA in the glomerular mesangium and along some capillary walls. Ultrastructural study confirmed the presence of parame-sangial deposits as well as subendothelial collagen fibrils in the glomeruli. The histological findings were those of combined NPS and IgA disease, an association which has rarely been described.
Collagenofibrotic glomerulopathy: A systemic disease
1999, American Journal of Kidney Diseases
Collagenofibrotic glomerulopathy is a recently discovered entity that is characterized by massive accumulation of spiraled and frayed collagen fibrils in mesangial and subendothelial areas, and elevated serum levels of procollagen III peptide. We report the autopsy of a patient who received continuous ambulatory peritoneal dialysis (CAPD) therapy for 7 years. Autopsy disclosed that massive accumulation of peculiar collagen fibers was found not only in the kidney, but also in many organs including spleen, liver, myocardium, and thyroid gland. Although the possibility remains that CAPD for 7 years might change or aggravate the deposition of abnormal collagen, the current case suggests a possibility that collagenofibrotic glomerulopathy is a systemic disorder with abnormal metabolism of type III collagen.

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Nail Patella-Like Renal Lesions in the Absence of Skeletal Abnormalities

Kidney Int

Am J Med

Genetical linkage between the ABO and nail patella loci

Ann Hum Genet

Linkage of the loci for the nail-patella syndrome and adenylate kinase

Am J Hum Genet