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Early-onset central diabetes insipidus is associated with de novo arginine vasopressin–neurophysin II or Wolfram syndrome 1 gene mutations

5 Mar 2015

Abstract excerpt

OBJECTIVE: Idiopathic early-onset central diabetes insipidus (CDI) might be due to mutations of arginine vasopressin-neurophysin II (AVP-NPII (AVP)) or wolframin (WFS1) genes. DESIGN AND METHODS: Sequencing of AVP and WFS1 genes was performed in nine children with CDI, aged between 9 and 68 months, and negative family history for polyuria and polydipsia. RESULTS: Two patients carried a mutation in the AVP gene: a...

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PMID: 25740874
DOI: 10.1530/eje-14-0942

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