Pediatric Nephrology

, Volume 22, Issue 12, pp 2119–2124

Cystic renal dysplasia as a leading sign of inherited metabolic disease

  • Felix Distelmaier
  • Markus Vogel
  • Ute Spiekerkötter
  • Klaus Gempel
  • Dirk Klee
  • Stefan Braunstein
  • Heinz-Peter Groneck
  • Ertan Mayatepek
  • Udo Wendel
  • Bernd Schwahn
Brief Report

DOI: 10.1007/s00467-007-0536-9

Cite this article as:
Distelmaier, F., Vogel, M., Spiekerkötter, U. et al. Pediatr Nephrol (2007) 22: 2119. doi:10.1007/s00467-007-0536-9

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.

Keywords

Glutaric acidemia type IICarnitine palmitoyltransferase type II deficiencyCystic renal dysplasiaMetabolic crisisEmergency therapy

Copyright information

© IPNA 2007

Authors and Affiliations

  • Felix Distelmaier
    • 1
  • Markus Vogel
    • 1
  • Ute Spiekerkötter
    • 1
  • Klaus Gempel
    • 2
  • Dirk Klee
    • 3
  • Stefan Braunstein
    • 4
  • Heinz-Peter Groneck
    • 5
  • Ertan Mayatepek
    • 1
  • Udo Wendel
    • 1
  • Bernd Schwahn
    • 1
  1. 1.Department of General PediatricsUniversity Children’s Hospital, Heinrich-Heine-UniversityDüsseldorfGermany
  2. 2.Institute for Clinical Chemistry and Molecular DiagnosticChildren’s Hospital Munich-Schwabing, Technical University MunichMunichGermany
  3. 3.Department of Diagnostic RadiologyHeinrich-Heine-UniversityDüsseldorfGermany
  4. 4.Institute of PathologyHeinrich-Heine-UniversityDüsseldorfGermany
  5. 5.Children’s Hospital LeverkusenLeverkusenGermany