title: Cystic renal dysplasia as a leading sign of inherited metabolic disease.
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.
authors.affiliation: Department of General Pediatrics, University Children's Hospital, Heinrich-Heine-University, Moorenstrasse 5, 40225, Düsseldorf, Germany. distelmaier@med.uni-duesseldorf.de
authors.forename: Felix
authors.initials: F
authors.lastname: Distelmaier
authors.forename: Markus
authors.initials: M
authors.lastname: Vogel
authors.forename: Ute
authors.initials: U
authors.lastname: Spiekerkötter
authors.forename: Klaus
authors.initials: K
authors.lastname: Gempel
authors.forename: Dirk
authors.initials: D
authors.lastname: Klee
authors.forename: Stefan
authors.initials: S
authors.lastname: Braunstein
authors.forename: Heinz-Peter
authors.initials: HP
authors.lastname: Groneck
authors.forename: Ertan
authors.initials: E
authors.lastname: Mayatepek
authors.forename: Udo
authors.initials: U
authors.lastname: Wendel
authors.forename: Bernd
authors.initials: B
authors.lastname: Schwahn
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology / Q000378:metabolism / Q000473:pathology*; D000138:Acidosis / Q000151:congenital / Q000378:metabolism / Q000473:pathology*; D002331:Carnitine / Q000097:blood; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000378:metabolism; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D052177:Kidney Diseases, Cystic / Q000151:congenital / Q000378:metabolism / Q000473:pathology*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000378:metabolism / Q000473:pathology*
chemical_list: D002334:Carnitine O-Palmitoyltransferase; D002331:Carnitine