Department of Pediatrics, Markusovszky Teaching Hospital, Szombathely, Hungary.
Department of Medical Genetics, University of Szeged, Szeged, Hungary.
BMC Pediatr. 2019 Jan 11;19(1):16. doi: 10.1186/s12887-019-1390-1.
Congenital chloride diarrhea (CCD, OMIM 214700) is a rare autosomal recessively inherited condition characterized by watery diarrhea, hypochloremia and metabolic alkalosis. Mutations of the solute carrier family 26, member 3 (SLC26A3, OMIM 126650) gene are responsible for the disease. The gene encodes a transmembrane protein, which is essential for intestinal chloride absorption.
Here we report a Hungarian boy, presenting the clinical phenotype of CCD. The patient born at 32 weeks of gestation and underwent surgery for abdominal distension and intestinal obstruction related to malrotation. After recovery, electrolyte replacement therapy was necessary due to several periods of diarrhea. After exclusion of other possible causes, increased chloride concentration in the feces supported the diagnosis of CCD. The diagnosis was confirmed by molecular genetic testing. Direct sequencing revealed compound-heterozygosity for a frameshift mutation c.1295delT (p.Leu432Argfs*11) and the known Polish founder mutation c.2024_2026dupTCA (p.Ile675_Arg676insLeu).
Here we present the clinical symptoms of the first patient in Hungary diagnosed with CCD. Based on the clinical symptoms, stool analysis and genetic testing, the diagnosis of CCD was established. Our study provides expansion for the mutation spectrum of the SLC26A3 gene and the genetic background of CCD.
先天性氯性腹泻（CCD，OMIM 214700）是一种罕见的常染色体隐性遗传性疾病，其特征为水样腹泻、低氯血症和代谢性碱中毒。溶质载体家族 26 成员 3（SLC26A3，OMIM 126650）基因突变可导致该病。该基因编码一种跨膜蛋白，对肠道氯吸收至关重要。
本文报告了一例匈牙利男孩，其临床表现符合 CCD 特征。该患者胎龄 32 周时出生，因肠旋转不良和肠梗阻接受了手术。术后因多次腹泻而需要电解质替代治疗。在排除其他可能的病因后，粪便中氯浓度增加支持 CCD 的诊断。分子遗传学检测证实了这一诊断。直接测序显示复合杂合性移码突变 c.1295delT（p.Leu432Argfs*11）和已知的波兰创始性突变 c.2024_2026dupTCA（p.Ile675_Arg676insLeu）。
本文报告了匈牙利首例被诊断为 CCD 的患者的临床症状。根据临床症状、粪便分析和基因检测，确立了 CCD 的诊断。本研究扩展了 SLC26A3 基因突变谱和 CCD 的遗传背景。
