PMID: 8971907Dec 1, 1996Paper

Hereditary disorders of the glomerular basement membrane

Pediatric Nephrology : Journal of the International Pediatric Nephrology Association
H J SmeetsL A Monnens

Abstract

Increased knowledge of the biochemical composition of the glomerular basement membrane (GBM) and the introduction of molecular genetics has shed new light on the hereditary disorders of the GBM. In this review three disorders are highlighted. About 85% of the cases reported as Alport syndrome are transmitted as the X-linked form and are due to mutations of the COl4A5 chain localized at Xq22. The autosomal recessive form can be explained by mutations in the COl4A3 and COl4A4 gene. Anti-GBM nephritis leading to loss of the renal allograft in about 1%-5% of transplanted Alport patients can be the tragic consequence of this disorder. Some patients with familial benign hematuria have an abnormality of COl4A4. The nail-patella syndrome is a rare autosomal dominant disorder defined by the association of nail dysplasia, bone abnormalities, and frequently renal disease. The gene is localized in region 9q34.1, COl5A1 is not involved. The Finnish type is the best known of the different forms of congenital nephrotic syndrome. The gene has been mapped to the long arm of chromosome 19. Diffuse mesangial sclerosis occurs in the isolated form and as part of the Denys Drash syndrome. Disturbances of the WT1 function in the epithelial cells can ...Continue Reading

Citations

Sep 13, 2003·Kidney International·Charles D Pusey
Oct 11, 2002·Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics·Jukka H MeurmanRaimo Sulkava
Apr 1, 1997·Journal of Medical Genetics·F Flinter
Jan 22, 2000·Pathology·K L ChuahG Chiang

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