Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan
2019
Objective To clarify clinical and genetic features of Japanese children with
congenital chloride diarrhea(CCD). Study design This was a multi-institutional, retrospective survey of 616 pediatric centers in Japan with identified patients with CCD between 2014 and 2018. Mutations involving
SLC26A3were detected by
Sanger sequencing. Results Thirteen patients met all entry criteria including mutations in
SLC26A3, and 14 patients satisfied clinical diagnostic criteria. Homozygous or compound heterozygous mutations in
SLC26A3, including 6 novel mutations, were identified in 13 of these 14 patients (93%). The most common (detected in 7 of 13) was c.2063-1g>t. Median age at diagnosis was 1 day. Nine of the patients meeting all criteria were diagnosed as neonates (69%). Median follow-up duration was 10 years. When studied, 8 patients had Conclusions Early fetal ultrasound diagnosis and prompt long-term sodium, potassium, and chloride supplementation were common management features. Genetic analysis of
SLC26A3provided definitive diagnosis of CCD. In contrast with previously reported localities, c.2063-1g>t might be a
founder mutationin East Asia.
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