Zhou Jianli, Zhao Yuzhen, Qian Xia, Cheng Yongwei, Cai Huabo, Chen Moxian, Zhou Shaoming
Division of Gastroenterology, Shenzhen Children's Hospital, Shenzhen, China.
Key Laboratory of National Forestry and Grassland Administration on Subtropical Forest Biodiversity Conservation, College of Biology and the Environment, Nanjing Forestry University, Nanjing, China.
Front Pediatr. 2021 Dec 2;9:731716. doi: 10.3389/fped.2021.731716. eCollection 2021.
Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive inherited disease that leads to the maldigestion of disaccharides and is associated with mutation of the sucrase-isomaltase () gene. Cases of CSID are not very prevalent in China or worldwide but are gradually being identified and reported. We report a case involving a 14-month-old male who presented with failure to thrive that had begun after food diversification and was admitted for chronic diarrhea. We used a whole-exome sequencing (WES) approach to identify mutations in this patient's genome. WES revealed two novel heterozygous mutations in the gene, c.2626C > T (p.Q876) and c.2872C > T (p.R958C), which were confirmed by Sanger DNA sequencing. With a strict sucrose- and starch-restricted diet, the patient's diarrhea was resolved, and he began to gain weight. We report a case of novel variants in the gene that caused CSID. This report provides valuable information for the clinical field, especially in China.
先天性蔗糖酶异麦芽糖酶缺乏症（CSID）是一种常染色体隐性遗传病，可导致二糖消化不良，与蔗糖酶异麦芽糖酶（）基因突变有关。CSID病例在中国或全球范围内并不十分常见，但正逐渐被发现和报道。我们报告了一例病例，一名14个月大的男性，在食物多样化后开始出现生长发育迟缓，并因慢性腹泻入院。我们采用全外显子组测序（WES）方法来鉴定该患者基因组中的突变。WES揭示了该基因中的两个新的杂合突变，即c.2626C>T（p.Q876）和c.2872C>T（p.R958C），这两个突变通过桑格DNA测序得到了证实。通过严格限制蔗糖和淀粉的饮食，患者的腹泻得到缓解，体重开始增加。我们报告了一例由该基因新变异导致CSID的病例。本报告为临床领域提供了有价值的信息，尤其是在中国。
