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外文期刊>Hong Kong Journal of Paediatrics
>A Case Report of Congenital Nephrogenic Diabetes Insipidus with Compound Heterozygous Mutation of the Aquaporin-2 Gene in a Chinese Male Infant
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A Case Report of Congenital Nephrogenic Diabetes Insipidus with Compound Heterozygous Mutation of the Aquaporin-2 Gene in a Chinese Male Infant
Congenital nephrogenic diabetes insipidus is a rare disorder that affects the kidneys' ability in urine concentration. Both diagnosis and management of the disease, especially during infancy are challenging. We report a five-month-old boy with failure to thrive and hypernatraemic dehydration. The diagnosis of nephrogenic diabetes insipidus was confirmed with water deprivation test and mutation analysis of the aquaprorin-2 (AQP2) gene. Parental genetic analysis showed that the proband is a compound heterozygote for two pathogenic AQP2 variants.
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