کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4163414 1274306 2008 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Hydrometrocolpos and acute renal failure: A rare neonatal presentation of Bardet–Biedl syndrome
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
پیش نمایش صفحه اول مقاله
Hydrometrocolpos and acute renal failure: A rare neonatal presentation of Bardet–Biedl syndrome
چکیده انگلیسی

The presence of hydrometrocolpos and postaxial polydactyly in a neonate can be caused by two genetic conditions; namely, McKusick–Kaufman syndrome and Bardet–Biedl syndrome. There are no distinct clinical features that allow discrimination between the two syndromes, as the cardinal features of rod–cone dystrophy, obesity, learning disability and renal dysfunction in Bardet–Biedl syndrome are age dependent. McKusick–Kaufman syndrome is characterized by vaginal atresia with hydrometrocolpos, postaxial polydactyly and congenital heart defect. Here we report an unusual presentation of Bardet–Biedl syndrome: a neonate born in a consanguineous family having an older sibling diagnosed with Bardet–Biedl syndrome presenting with postaxial polydactyly and vaginal atresia; the latter causing hydrometrocolpos, hydronephrosis and renal failure. Relief of urinary obstruction by exploratory laparotomy and aspiration of fluid, and vaginal reconstruction gradually reversed the hydronephrosis and renal failure. The patient developed end-stage renal failure towards the end of her first decade, possibly due to underlying renal pathology associated with Bardet–Biedl syndrome.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Pediatric Urology - Volume 4, Issue 4, August 2008, Pages 313–316
نویسندگان
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