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沃尔科特-拉利森综合征——伴有复发性急性肝衰竭的内分泌病。

Wolcott-Rallison Syndrome- Endocrinopathy with Recurrent Acute Liver Failure.

机构信息

Department of Paediatric Hepatology, Institute of Liver Disease and Transplantation, Dr Rela Institute and Medical Centre, Chennai, India.

Department of Paediatric Hepatology, Institute of Liver Disease and Transplantation Dr Rela Institute and Medical Centre, Chennai, India.

出版信息

Indian Pediatr. 2019 Dec 15;56(12):1055-1056.

Abstract

A 2-yr-old child with early onset diabetes and hypothyroidism, and diagnosed as Wolcott-Rallison Syndrome, developed two episodes of acute liver failure and recovered, but he remains at high risk of developing another episode of acute liver failure. Autoimmune, metabolic or genetic disorders should be evaluated in children with recurrent acute liver failure and genetic tests needs to be considered.

摘要

一名 2 岁幼儿患有早发性糖尿病和甲状腺功能减退症,并被诊断为沃-奥二氏综合征,曾两次发生急性肝功能衰竭并康复,但仍有再次发生急性肝功能衰竭的高风险。对于反复发生急性肝功能衰竭的儿童,应评估自身免疫、代谢或遗传疾病,需要考虑进行基因检测。

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Wolcott-Rallison Syndrome with Novel EIF2AK3 Gene Mutation.伴有新型EIF2AK3基因突变的沃科特-拉利森综合征
J Clin Res Pediatr Endocrinol. 2016 Dec 1;8(4):496-497. doi: 10.4274/jcrpe.3065. Epub 2016 Jun 4.
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Wolcott Rallison syndrome: a rare inherited diabetes mellitus.沃尔科特·拉利森综合征:一种罕见的遗传性糖尿病。
Indian J Pediatr. 2014 Nov;81(11):1225-7. doi: 10.1007/s12098-014-1422-7. Epub 2014 Apr 8.

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