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Practical management in Wolcott‐Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report

机译:Wolcott-Rallison综合征伴甲状腺功能减退,中性粒细胞减少和复发性肝衰竭的实际管理:一例报告

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Key Clinical Message Wolcott‐Rallison syndrome is a rare genetic syndrome of neonatal diabetes, liver failure, and growth retardation. We present a case with a EIF2AK3 p.(Arg902Ter) mutation, additionally complicated by hypothyroidism, impaired renal function, and exocrine pancreas insufficiency, focusing on clinical management. For its optimization, thorough care of multiple organ systems is needed.
机译:重要临床信息沃尔科特·罗里森综合症是新生儿糖尿病,肝衰竭和生长迟缓的罕见遗传综合症。我们介绍了一个EIF2AK3 p。(Arg902Ter)突变的病例,此外还伴有甲状腺功能减退,肾功能受损和外分泌胰腺功能不全,重点是临床治疗。为了使其最优化,需要对多个器官系统进行彻底的护理。

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