中国一婴儿患先天性氯性腹泻，存在 SLC26A3 基因突变的复合杂合子。
Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation.
机构信息
Department of Pediatric Nephrology and Rheumatism and Immunology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan, 250021, P.R. China.
Department of Pediatric Nephrology and Rheumatism and Immunology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, 250021, P.R. China.
出版信息
BMC Pediatr. 2024 May 4;24(1):305. doi: 10.1186/s12887-024-04788-x.
INTRODUCTION
Congenital chloride diarrhoea (CCD) is an autosomal recessive condition that causes secretory diarrhoea and potentially deadly electrolyte imbalances in infants because of solute carrier family 26 member 3 (SLC26A3) gene mutations.
CASE PRESENTATION
A 7-month-old Chinese infant with a history of maternal polyhydramnios presented with frequent watery diarrhoea, severe dehydration, hypokalaemia, hyponatraemia, failure to thrive, metabolic alkalosis, hyperreninaemia, and hyperaldosteronaemia. Genetic testing revealed a compound heterozygous SLC26A3 gene mutation in this patient (c.269_270dup and c.2006 C > A). Therapy was administered in the form of oral sodium and potassium chloride supplements, which decreased stool frequency.
CONCLUSIONS
CCD should be considered when an infant presents with prolonged diarrhoea during infancy, particularly in the context of maternal polyhydramnios and dilated foetal bowel loops.
引言
先天性氯性腹泻（CCD）是一种常染色体隐性疾病，由于溶质载体家族 26 成员 3（SLC26A3）基因突变，导致婴儿出现分泌性腹泻和潜在致命的电解质失衡。
病例介绍
一名 7 个月大的中国婴儿，有羊水过多的母亲病史，表现为频繁水样腹泻、严重脱水、低钾血症、低钠血症、生长发育不良、代谢性碱中毒、高肾素血症和高醛固酮血症。基因检测显示该患者存在 SLC26A3 基因突变的复合杂合子（c.269_270dup 和 c.2006C > A）。治疗形式为口服氯化钠和氯化钾补充剂，这降低了粪便频率。
结论
当婴儿在婴儿期出现长时间腹泻时，特别是在羊水过多和胎儿肠管扩张的情况下，应考虑 CCD。
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