2018
DOI: 10.5152/turkpediatriars.2018.6929
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SLC26A3 mutation in Turkish neonate and her sibling with congenital chloride diarrhea

Abstract: Congenital chloride diarrhea is a rare cause of severe infantile diarrhea with excessive chloride excretion. Mutations in the SLC26A3 gene cause congenital chloride diarrhea. It generally becomes apparent in the neonatal period and is characterized by electrolyte imbalances, metabolic alkalosis, and failure to thrive. The diagnosis of congenital chloride diarrhea is based on detecting excessive chloride in the stool (90 mmol/L). We report a Turkish neonate with congenital chloride diarrhea whose sibling had th… Show more

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Cited by 3 publications
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“…Recently, 13 Japanese CCD patients with SLC26A3 mutations were identified by a nationwide survey in which we likewise noted diversity among the causative mutations (Konishi et al, 2019). CCD has affected families from Turkey, Japan, and other countries (Doğan et al, 2020; Yoshikawa, Watanabe, Abe, Sato, & Oda, 2000). However, no de novo mutations have been found to be responsible for CCD.…”
Section: Introductionmentioning
confidence: 99%
“…Recently, 13 Japanese CCD patients with SLC26A3 mutations were identified by a nationwide survey in which we likewise noted diversity among the causative mutations (Konishi et al, 2019). CCD has affected families from Turkey, Japan, and other countries (Doğan et al, 2020; Yoshikawa, Watanabe, Abe, Sato, & Oda, 2000). However, no de novo mutations have been found to be responsible for CCD.…”
Section: Introductionmentioning
confidence: 99%