A novel AVPR2 missense mutation in a Chinese boy with severe inherited nephrogenic diabetes insipidus

Inherited nephrogenic diabetes insipidus (NDI) is characterized by renal resistance to arginine vasopressin (AVP). The most common cause is mutations in the AVP receptor 2 (AVPR2) gene at Xq28. Severe complications of NDI are rare but can occur after severe dehydration without treatment. A 7-year-ol...

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Veröffentlicht in:	Journal of Pediatric Endocrinology and Metabolism 2011-10, Vol.24 (9-10), p.807-809
Hauptverfasser:	Huang, Lingli, Li, Wen, Tang, Weilin, Lu, Guangxiu
Format:	Artikel
Sprache:	eng
Schlagworte:	arginine vasopressin receptor 2 Asian Continental Ancestry Group - genetics Child Diabetes Insipidus, Nephrogenic - genetics Family Health Humans Male missense mutation Mutation, Missense - genetics nephrogenic diabetes insipidus Pedigree Receptors, Vasopressin - genetics Severity of Illness Index X-linked
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