糖原贮积病 Ib 型肝硬变
Liver cirrhosis in glycogen storage disease Ib.
机构信息
Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Heinrich Heine University, Moorenstr. 5, D-40225 Duesseldorf, Germany.
出版信息
Mol Genet Metab. 2013 Mar;108(3):198-200. doi: 10.1016/j.ymgme.2013.01.003. Epub 2013 Jan 11.
Glycogen storage disease Ib is an inborn error of carbohydrate metabolism leading to impaired glycogenolysis and gluconeogenesis. Cardinal symptoms include fasting hypoglycemia, lactic acidosis and hepatomegaly as well as neutropenia. We report for the first time on the development of liver cirrhosis in a nine-year-old boy in the course of glycogen storage disease Ib and discuss possible underlying pathomechanisms.
糖原贮积病 Ib 是一种先天性碳水化合物代谢紊乱，导致糖原分解和糖异生受损。主要症状包括空腹低血糖、乳酸性酸中毒和肝肿大以及中性粒细胞减少症。我们首次报告了一名九岁男孩在糖原贮积病 Ib 过程中发展为肝硬化的情况，并讨论了可能的潜在发病机制。
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