Anderson Sharon, Koniaris Soula, Xin Baozhong, Brooks Susan Sklower
J Pediatr Health Care. 2017 Jul-Aug;31(4):506-510. doi: 10.1016/j.pedhc.2017.01.005. Epub 2017 Mar 7.
Congenital glucose-galactose malabsorption (CGGM) is a rare cause of intractable infantile diarrhea, with only a few hundred cases recognized worldwide. This life-threatening disorder must be considered in the differential diagnosis of an infant who presents with diarrhea and dehydration that fails to respond to standard therapy. The clinical and diagnostic course of an infant with recurrent episodes of watery diarrhea and hypernatremic dehydration found to be homozygous for a rare variant in the SLC5A1 gene, c.187C>T (p.R63X) is described.
先天性葡萄糖 - 半乳糖吸收不良（CGGM）是婴儿顽固性腹泻的罕见病因，全球仅确诊数百例。对于出现腹泻和脱水且对标准治疗无反应的婴儿进行鉴别诊断时，必须考虑这种危及生命的疾病。本文描述了一名患有复发性水样腹泻和高钠血症脱水的婴儿的临床和诊断过程，该婴儿被发现SLC5A1基因存在罕见变异c.187C>T（p.R63X），且为纯合子。
