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Pediatric Radiology
Published in: Pediatric Radiology 1/2011

01-01-2011 | Case Report

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

Authors: Arnaud Devriendt, Nash Damry, Michèle Hall, Maria Mesquita, Fred Avni

Published in: Pediatric Radiology | Issue 1/2011

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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.
Literature
1.
Avni FE, Guissard G, Hall M et al (2002) Hereditary polycystic kidney diseases in children: changing sonographic patterns through childhood. Pediatr Radiol 32:169–174CrossRefPubMed
2.
Brun M, Maugey-Laulom B, Eurin D et al (2004) Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: a multicenter study. Ultrasound Obstet Gynecol 24:55–61CrossRefPubMed
3.
Diallo O, Janssens F, Hall M et al (2004) Type 1 primary hyperoxaluria in pediatric patients: renal sonographic patterns. AJR 183:1767–1770PubMed
4.
Cochat P, Liutkus A, Fargue S et al (2006) Primary hyperoxaluria type 1: still challenging! Pediatr Nephrol 21:1075–1081CrossRefPubMed
5.
Tee JB, Acott PD, McLellan DH et al (2004) Phenotypic heterogeneity in pediatric autosomal dominant polycystic kidney disease at first presentation: a single-center, 20-year review. Am J Kidney Dis 43:296–303CrossRefPubMed
Metadata
Title
A rare case of primary hyperoxaluria type 1 co-existing with autosomal-dominant polycystic kidney disease in a newborn
Authors
Arnaud Devriendt
Nash Damry
Michèle Hall
Maria Mesquita
Fred Avni
Publication date
01-01-2011
Publisher
Springer-Verlag
Published in
Pediatric Radiology / Issue 1/2011
Print ISSN: 0301-0449
Electronic ISSN: 1432-1998
DOI
https://doi.org/10.1007/s00247-010-1695-6

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