Format

Send to

Choose Destination
See comment in PubMed Commons below
Pediatr Nephrol. 2007 Dec;22(12):2119-24. Epub 2007 Jul 19.

Cystic renal dysplasia as a leading sign of inherited metabolic disease.

Author information

1
Department of General Pediatrics, University Children's Hospital, Heinrich-Heine-University, Moorenstrasse 5, 40225, D├╝sseldorf, Germany. distelmaier@med.uni-duesseldorf.de

Abstract

Glutaric acidemia type II and carnitine palmitoyltransferase type II deficiency are rare, but potentially treatable, inherited metabolic diseases. Hallmarks of the early onset form of both conditions are renal abnormalities and neonatal metabolic crisis. In this article, we report on two newborns with cystic renal dysplasia as a leading sign of these metabolic diseases. We focus on the clinical presentation and discuss the diagnostic tests and the available therapeutic options. We conclude that prenatal diagnosis of cystic renal dysplasia should alert the physician to the possibility of these metabolic diseases. This knowledge should prompt careful observation and, where necessary, early intervention during the postnatal period of catabolism.

PMID:
17638024
DOI:
10.1007/s00467-007-0536-9
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Springer
    Loading ...
    Support Center