庞贝病患儿的青春期过早出现。
Premature pubarche in children with Pompe disease.
作者信息
Tan Queenie K-G, Stockton David W, Pivnick Eniko, Choudhri Asim F, Hines-Dowell Stacy, Pena Loren D M, Deimling Melissa A, Freemark Michael S, Kishnani Priya S
机构信息
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.
Division of Genetic and Metabolic Disorders, Departments of Pediatrics and Internal Medicine, Wayne State University and Children's Hospital of Michigan, Detroit, MI.
出版信息
J Pediatr. 2015 Apr;166(4):1075-8.e1. doi: 10.1016/j.jpeds.2014.12.074. Epub 2015 Feb 14.
Abstract
Pompe disease (PD), or glycogen storage disease type II, results from deficiency of acid α-glucosidase. Patients with infantile-onset PD die by early childhood if untreated. Patient survival has improved with enzyme replacement therapy. We report a case series of 8 patients with infantile-onset PD on enzyme replacement therapy with premature pubarche.
摘要
庞贝病（PD），即II型糖原贮积病，是由酸性α-葡萄糖苷酶缺乏引起的。未经治疗的婴儿型庞贝病患者在幼儿期就会死亡。酶替代疗法提高了患者的生存率。我们报告了一组8例接受酶替代治疗且出现青春期过早发育的婴儿型庞贝病患者的病例系列。
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The emerging phenotype of long-term survivors with infantile Pompe disease.婴儿型庞贝病长期存活者的新兴表型。
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