Literature DB >> 20490484

A rare case of primary hyperoxaluria type 1 co-existing with autosomal-dominant polycystic kidney disease in a newborn.

Arnaud Devriendt1, Nash Damry, Michèle Hall, Maria Mesquita, Fred Avni.   

Abstract

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.

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Year:  2010        PMID: 20490484     DOI: 10.1007/s00247-010-1695-6

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  5 in total

Review 1.  Primary hyperoxaluria type 1: still challenging!

Authors:  Pierre Cochat; Aurélia Liutkus; Sonia Fargue; Odile Basmaison; Bruno Ranchin; Marie-Odile Rolland
Journal:  Pediatr Nephrol       Date:  2006-06-30       Impact factor: 3.714

2.  Hereditary polycystic kidney diseases in children: changing sonographic patterns through childhood.

Authors:  Fred E Avni; Gretel Guissard; Michelle Hall; Françoise Janssen; Viviane DeMaertelaer; Françoise Rypens
Journal:  Pediatr Radiol       Date:  2002-03

3.  Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: a multicenter study.

Authors:  M Brun; B Maugey-Laulom; D Eurin; F Didier; E F Avni
Journal:  Ultrasound Obstet Gynecol       Date:  2004-07       Impact factor: 7.299

4.  Phenotypic heterogeneity in pediatric autosomal dominant polycystic kidney disease at first presentation: a single-center, 20-year review.

Authors:  James B Tee; Philip D Acott; D Heather McLellan; John F S Crocker
Journal:  Am J Kidney Dis       Date:  2004-02       Impact factor: 8.860

5.  Type 1 primary hyperoxaluria in pediatric patients: renal sonographic patterns.

Authors:  Ousséini Diallo; Françoise Janssens; Michelle Hall; E Fred Avni
Journal:  AJR Am J Roentgenol       Date:  2004-12       Impact factor: 3.959

  5 in total

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