A rare case of primary hyperoxaluria type 1 co-existing with autosomal-dominant polycystic kidney disease in a newborn
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Arnaud Devriendt & Nash Damry & Michèle Hall & Maria Mesquita & Fred Avni
- چاپ و سال / کشور: 2010
Description
We describe the first reported case to our knowledge of an infant presenting with the extremely rare association of primary hyperoxaluria type 1 (PH-1) and autosomal-dominant polycystic kidney disease (ADPKD). This diagnosis was suspected on the basis of the renal US findings and confirmed by complementary examinations. It led to severe oxalosis with very rapid onset of end-stage renal failure (ESRF) and required combined liver-kidney transplantation at the age of 18 months. The boy died 13 days after transplantation.
Pediatr Radiol (2011) 41:107–109 DOI 10.1007/s00247-010-1695-6 Received: 13 February 2010 / Revised: 31 March 2010 / Accepted: 6 April 2010 / Published online: 19 May 2010
