Posterior urethral valves in three siblings: a case report and review of the literature.

Autor: Schreuder MF; Department of Pediatric Nephrology, VU University Medical Center, Pediatric Nephro-urology Center, PO Box 7057, 1007 MB Amsterdam, The Netherlands. m.f.schreuder@erasmusmc.nl, van der Horst HJ, Bökenkamp A, Beckers GM, van Wijk JA
Jazyk: angličtina
Zdroj: Birth defects research. Part A, Clinical and molecular teratology [Birth Defects Res A Clin Mol Teratol] 2008 Apr; Vol. 82 (4), pp. 232-5.
DOI: 10.1002/bdra.20439
Abstrakt: Background: Posterior urethral valves (PUVs), the most common congenital cause of lower urinary tract obstruction, have been described to occur in families. Until now, reports have been published on 10 cases of PUVs in two siblings and 13 cases of PUVs in identical and nonidentical twins, of which we provide an overview.
Cases: We report for the first time on three siblings with PUVs, with a different presentation and course in the three brothers. This within-family variability is well noted and is even present in identical twins.
Conclusions: This finding suggests that both genetic and environmental factors play a role in the presence and severity of PUVs. As brothers of patients with PUVs seem to be at increased risk of having PUVs, we suggest antenatal ultrasound screening in brothers of patients with PUVs in order to guide early and optimal care.
((c) 2008 Wiley-Liss, Inc.)
Databáze: MEDLINE
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