Article
Congenital chloride diarrhea in patient with SLC26A2 mutation - analysis of the clinical phenotype and differential diagnosis.
Pediatric endocrinology, diabetes, and metabolism - 1 Jan 2021
Sun Meiyuan, Tao Na, Liu Xiaomei, Yang Yang, Su Yanfang, Xu Fang
Abstract excerpt
INTRODUCTION: To analyze the clinical features and SLC26A3 mutation of one patient in our hospital who had congenital loss of chlorine diarrhea (CLD), and to investigate the treatment of the disease and the prognosis. MATERIAL AND METHODS: By reviewing the literature, analyzing the clinical features and differential diagnosis and investigating the treatment and prognosis, the patient was diagnosed as CLD....
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