Familial Renal Tubular Dysgenesis: A Disorder Not Isolated to Proximal Convoluted Tubules
- 1 January 1995
- journal article
- case report
- Published by Taylor & Francis in Pediatric Pathology & Laboratory Medicine
- Vol. 15 (6) , 915-922
- https://doi.org/10.3109/15513819509027027
Abstract
The autopsy findings of a newborn with renal tubular dysgenesis, born to first cousins of Moslim Arob descent, are described. Hypocalvaria and hyperflexible joints were noted in addition to the renal lesion. A microdissection study demonstrated marked shortening of all the nephron segments from the glomeruli to the collecting tubules, rather than an isolated abnormality of the proximal convoluted tubules.Keywords
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