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Article

Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing.

European journal of pediatrics - 1 Sept 2016

Hrčková Gabriela, Jankó Viktor, Kytnarová Jitka, Čižmárová Michaela, Tesařová Markéta, Košťálová Ľudmila, Virgová Daniela, Dallos Tomáš, Hána Václav, Lebl Jan, Zeman Jiří, Kovács László

Abstract excerpt

UNLABELLED: Familial neurohypophyseal diabetes insipidus (FNDI) is a rare hereditary disorder with unknown prevalence characterized by arginine-vasopressin hormone (AVP) deficiency resulting in polyuria and polydipsia from early childhood. We report the clinical manifestation and genetic test results in seven unrelated kindreds of Czech or Slovak origin with FNDI phenotype. The age of the sign outset ranged from...

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PMID: 27539621
DOI: 10.1007/s00431-016-2759-x

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AVP

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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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