منابع مشابه
Genetic Diseases of the Kidney
The number of genes associated with renal disease is increasing every day and this has led to a clearer understanding of the pathophysiology of renal disease in many disorders. It is also appreciated now that a genetic mutation(s) underlie many renal syndromes. Genetic testing may also offer the possibility to diagnose some renal diseases without the need for a renal biopsy. It also allows the ...
متن کاملBasement Membrane Defects in Genetic Kidney Diseases
The glomerular basement membrane (GBM) is a specialized structure with a significant role in maintaining the glomerular filtration barrier. This GBM is formed from the fusion of two basement membranes during development and its function in the filtration barrier is achieved by key extracellular matrix components including type IV collagen, laminins, nidogens, and heparan sulfate proteoglycans. ...
متن کاملKidney Diseases: Environmental and Genetic Factors
The spectrum of hereditary (autosomal dominant) renal cancer syndrome is widening with time. Von Hippel-Lindau (VHL) disease was first to be identified. Attention has been focused on novel localizations of VHL disease (in addition to central nervous system and retinal involvement, bilateral and multifocal renal cell carcinoma [RCC], and pheochromocytoma), such as pancreas cysts and tumors and, ...
متن کاملTowards Therapy in Genetic Kidney Diseases: Hopes and Uncertainties
The finding of drusen-like lesions beneath the retina in patients with membranoproliferative (or mesangiocapillary) glomerulonephritis (MPGN) type II, with or without partial lipodystrophy, was first reported in 1989. This was confirmed subsequently and has not been reported in other types of glomerulonephritis. These drusen develop at an early age, often in the second decade of life. Some auth...
متن کاملPotential and pitfalls in the genetic diagnosis of kidney diseases
Next-generation sequencing has dramatically decreased the cost of gene sequencing, facilitating the simultaneous analysis of multiple genes at the same time; obtaining a genetic result for an individual patient has become much easier. The article by Ars and Torra in this issue of the Clinical Kidney Journal provides examples of the ever-increasing ability to understand a given patient's disease...
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ژورنال
عنوان ژورنال: The Lancet
سال: 2010
ISSN: 0140-6736
DOI: 10.1016/s0140-6736(10)60236-x