Importance of Early Genetic Sequencing in Neonates Admitted to NICU with Recurrent Hypernatremia: Results of a Prospective Cohort Study.

Liyuan Hu,Lin Yang,Kai Yan,Bingbing Wu,Huijun Wang,Rong Zhang,Jin Wang,Yun Cao,Guoqiang Cheng,Wenhao Zhou

Neonatology（2022）

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摘要

Single-gene disorders are common in neonates with recurrent hypernatremia, and >50% of cases are caused by AVPR2 deficiency-associated congenital nephrogenic diabetes insipidus. Early genetic testing can aid the diagnosis of unexplained recurrent neonatal hypernatremia and improve therapy and outcome.

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关键词

Congenital glucose-galactose malabsorption,Congenital nephrogenic diabetes insipidus,Genetics,Hypernatremia,Neonate

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