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Familial hypoplastic glomerulocystic kidney disease: A definite entity with dominant inheritance

✍ Scribed by Kaplan, Bernard S. ;Gordon, Isky ;Pincott, John ;Barratt, T. Martin

Publisher: John Wiley and Sons
Year: 1989
Tongue: English
Weight: 617 KB
Volume: 34
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320340423

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✦ Synopsis

Autosomal dominant (or possibly X-linked) inheritance of familial hypoplastic glomerulocystic kidneys is described in a mother and son who both had stable, chronic renal failure, cystic kidneys by ultrasound examination, glomerular cysts as demonstrated histologically, and malformed renal calyces. There was no evidence of other congenital abnormalities apart from prognathism, small stature and pyloric stenosis. Hepatic fibrosis was not evident in a liver biopsy specimen. These findings add further confirmation to the existence of the syndrome of familial hypoplastic glomerulocystic kidney disease with dominant inheritance.

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