1. A novel missense mutation Q495K of SLC26A3 gene identified in a Chinese child with congenital chloride-losing diarrhoea
- Author
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Yu Jin, Hongmei Guo, and Bi-Xia Zheng
- Subjects
Diarrhea ,Male ,0301 basic medicine ,Polyhydramnios ,Oral rehydration salts ,Pediatrics ,medicine.medical_specialty ,DNA Mutational Analysis ,Mutation, Missense ,SLC26A3 ,03 medical and health sciences ,0302 clinical medicine ,Asian People ,030225 pediatrics ,medicine ,Humans ,Missense mutation ,Chloride-Bicarbonate Antiporters ,biology ,business.industry ,Infant ,General Medicine ,medicine.disease ,030104 developmental biology ,Sulfate Transporters ,Pediatrics, Perinatology and Child Health ,Failure to thrive ,Vomiting ,biology.protein ,Gestation ,medicine.symptom ,business ,Metabolism, Inborn Errors ,Watery stools - Abstract
A partially-breastfed male baby aged 11 months and 22 days was admitted as he had been passing loose stools since birth and had experienced occasional vomiting and failure to thrive. He passed watery stools 8-10 times per day, but there was no blood or mucous. The parents were healthy and their marriage was nonconsanguineous. The antenatal and birth history included polyhydramnios and premature delivery at 35 weeks of gestation. The baby's birthweight was 2.3kg (P23). He was hospitalised several times for persistent diarrhoea before coming to our hospital, but had no episodes of intestinal pseudo-obstruction. He always had to take medication, such as oral rehydration salts and Smectite. This article is protected by copyright. All rights reserved.
- Published
- 2017
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