Renal involvement in genetic disease

D Joly and J P Grünfeld

in Oxford Textbook of Medicine

Published on behalf of Oxford University Press

Published in print May 2010 | ISBN: 9780199204854
Published online May 2011 | e-ISBN: 9780199570973 | DOI:

Series: Oxford Textbooks

Renal involvement in genetic disease

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There are many inherited disorders in which the kidney is affected: this chapter is concerned with the commonest inherited diseases leading to renal failure.

Autosomal dominant polycystic kidney disease—accounts for about 7% of cases of endstage renal failure in Western countries. Inheritance is autosomal dominant, with mutations in polycystin 1 responsible for 85% of cases and mutations in polycystin 2 accounting for most of the remainder, these being transmembrane proteins that are able to interact, function together as a nonselective cation channel, and also induce several distinct transduction pathways. May present with renal pain, haematuria, urinary tract infection, or hypertension, or be discovered incidentally on physical examination or abdominal imaging, or by family screening, or after routine measurement of renal function. Commonly progresses to endstage renal failure at between 40 and 60 years of age. Extrarenal manifestations include intracranial aneurysms, liver cysts, and mitral valve prolapse....

Chapter.  6654 words.  Illustrated.

Subjects: Nephrology

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