Distelmaier Felix, Vogel Markus, Spiekerkötter Ute, Gempel Klaus, Klee Dirk, Braunstein Stefan, Groneck Heinz-Peter, Mayatepek Ertan, Wendel Udo, Schwahn Bernd
Department of General Pediatrics, University Children's Hospital, Heinrich-Heine-University, Moorenstrasse 5, 40225, Düsseldorf, Germany.
Pediatr Nephrol. 2007 Dec;22(12):2119-24. doi: 10.1007/s00467-007-0536-9. Epub 2007 Jul 19.
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.
II型戊二酸血症和II型肉碱棕榈酰转移酶缺乏症是罕见但有可能治疗的遗传性代谢疾病。这两种疾病早发型的特征是肾脏异常和新生儿代谢危机。在本文中，我们报告了两名以多囊性肾发育不良为这些代谢疾病主要体征的新生儿。我们重点关注临床表现，并讨论诊断测试和可用的治疗选择。我们得出结论，多囊性肾发育不良的产前诊断应提醒医生注意这些代谢疾病的可能性。这些知识应促使在产后分解代谢期进行仔细观察，并在必要时进行早期干预。
