PMID: 20635683Jul 20, 2010Paper

Congenital polycystic kidney disease in one of the twins

Bratislavské lekárske listy
V BartosM Pec

Abstract

Cystic renal disorders generally comprise a heterogeneous group of conditions. The most common genetic form is a polycystic kidney disease. This nosologic entity can be inherited as either an autosomal recessive or autosomal dominant trait. Among all cystic renal disorders, autosomal recessive polycystic kidney disease is the most frequent heritable disease manifesting in infancy and childhood and is among those that come to clinical attention early. The characteristic pathologic changes occur in the kidneys and the liver, however, several other organ systems can be affected secondarily. Both kidneys are enlarged because of multiple progressive cystic dilatation of the renal tubules that results to renal failure. The liver is characterized by periportal fibrosis with bile ducts abnormalities. The renal and hepatic manifestations are more or less inversely proportional in individual patients. Therefore, the morphological features and clinical presentation of this disorder can vary substantially. Moreover, there is also a great variability in the severity and manifestations even between individuals from the same family who carry the identical mutations. The authors present a case report of a fatal clinical course of the perinatal...Continue Reading

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