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以沃曼病表现的顽固性腹水:两例同胞病例报告。

Intractable ascites as a manifestation of Wolman's disease: report of two sibs.

作者信息

Kathuria Rachana, Poddar Ujjal, Ghosh Jayanta, Yachha Surender Kumar, Gnanapriya V, Pandey Rakesh, Kaur Anupriya, Phadke Subha, Srivastava Anshu

机构信息

Department of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, India.

出版信息

Indian J Gastroenterol. 2012 Dec;31(6):343-5. doi: 10.1007/s12664-012-0253-6. Epub 2012 Sep 25.

Abstract

Wolman disease (WD) is a rare, inherited, rapidly fatal condition presenting in early infancy. The disease manifests in the first month of life with failure to thrive, vomiting, diarrhea, abdominal distension, hepatosplenomegaly and bilateral adrenal calcification and is nearly always fatal before the age of 1 year. Barring a case report of isolated fetal ascites, there is no report of intractable ascites as the presentation of WD till date. We report two siblings with WD who both had intractable ascites and required therapeutic paracentesis, albumin infusion, and diuretics to control tense ascites. Although rare, WD should be considered in the differential diagnosis of infantile ascites.

摘要

沃尔曼病(WD)是一种罕见的遗传性疾病,在婴儿早期发病且进展迅速,常导致死亡。该病在出生后第一个月就会出现生长发育迟缓、呕吐、腹泻、腹胀、肝脾肿大以及双侧肾上腺钙化等症状,几乎所有患儿在1岁前死亡。除了一篇关于孤立性胎儿腹水的病例报告外,迄今为止尚无WD以顽固性腹水为表现的报道。我们报告了两名患有WD的同胞兄弟姐妹,他们均出现了顽固性腹水,需要进行治疗性腹腔穿刺、输注白蛋白和使用利尿剂来控制张力性腹水。尽管WD罕见,但在婴儿腹水的鉴别诊断中应考虑到该病。

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