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Article

Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel missense mutation in AVP gene in a large Italian kindred.

Endocrine - 1 Oct 2021

Marzocchi Carlotta, Cantara Silvia, Sagnella Alfonso, Castagna Maria Grazia, Capezzone Marco

Abstract excerpt

PURPOSE: Familial neurohypophysial diabetes insipidus (FNDI), commonly caused by autosomal dominant arginine vasopressin (AVP) mutations, is a rare condition in which vasopressin fails in regulating body's level of water with final polyuria and polydipsia. Genetic testing in familial cases of FNDI should be carry out to ensure adequate treatments and avoid disease manifestations especially in infants. METHODS: In...

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Identifiers

PMID: 34319541
DOI: 10.1007/s12020-021-02830-x
PMCID: PMC8440291

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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