Case Report: Novel CA12 Homozygous Variant Causing Isolated Hyperchloridrosis in a Chinese Child With Hyponatremia.

ABSTRACT: Isolated hyperchloridrosis (HYCHL; OMIM 143860) is a rare autosomal recessive disorder caused by biallelic mutations in the carbonic anhydrase 12 (CA12; OMIM 603263) gene, which is characterized by abnormally high levels of salt in sweat that can lead to dehydration associated with low levels of sodium in the blood. To date, only four variants of the CA12 gene have been identified to be associated with HYCHL. Here, we presented a rare Chinese case of HYCHL in an infant with decreased food intake, mild diarrhea, severe dehydration, and hypovolemic shock who was hospitalized in our department three times. Laboratory tests showed hyponatremia and hypochloremia. Because of recurrent attacks, whole-exome sequencing (WES) was performed and revealed a novel homozygous missense varia

SUBMITTER: Han M 

PROVIDER: S-EPMC8964059 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature