Department of Pediatrics, University of Jena, Germany.
We report a male newborn presenting with sonographically normal kidneys, oligohydramnios during late pregnancy, and persisting anuric renal failure. Despite intensive treatment, the patient suffered from severe hypotension and died at the age of 4 weeks. At autopsy, kidneys were found to be normal; on histology, deranged renal structures, in particular proximal tubuli and vessels, were noted, leading to the diagnosis of renal tubular dysgenesis (RTD). The diagnosis was confirmed by 2 heterozygous nonsense mutations of the ACE gene. Because the recurrence rate of RTD is 25% for the autosomal recessive trait, knowledge and genetic diagnosis of the disease is important for the parents.
Written by:
John U, Benz K, Hübler A, Patzer L, Zenker M, Amann K. Are you the author?
Reference: Urology. 2011 Nov 15. Epub ahead of print.
doi: 10.1016/j.urology.2011.08.058
PubMed Abstract
PMID: 22088568
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