SLC10A2 deficiency-induced congenital chronic bile acid diarrhea and stunting,Molecular Genetics & Genomic Medicine

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SLC10A2 deficiency-induced congenital chronic bile acid diarrhea and stunting
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2021-06-30 , DOI: 10.1002/mgg3.1740
Di Qie ₁ , Yulin Zhang ₁ , Xue Gong ₁ , Yunru He ₁ , Lina Qiao ₁ , Guoyan Lu ₁ , Yifei Li ₁

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Diarrhea is a common occurrence in children below the age of 5 years. In chronic cases, it induces malnutrition that severely stunts growth. Bile acid diarrhea (BAD), caused by malabsorption of bile acid (BA), is a rare form of chronic diarrhea seldom observed in pediatric patients. Here, we present a clinical report on a novel case of chronic BAD, with severe stunting in an infant, induced by a homozygous mutation of SLC10A2.

中文翻译：

SLC10A2缺乏引起的先天性慢性胆汁酸腹泻和发育迟缓

腹泻在 5 岁以下的儿童中很常见。在慢性病例中，它会导致严重阻碍生长的营养不良。由胆汁酸 (BA) 吸收不良引起的胆汁酸腹泻 (BAD) 是一种罕见的慢性腹泻，在儿科患者中很少观察到。在这里，我们介绍了一个新的慢性 BAD 病例的临床报告，该病例伴有严重的婴儿发育迟缓，由SLC10A2的纯合突变引起。

更新日期：2021-08-30

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