Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Family experience with individuals of different ages and clinical presentations diagnosed with DI: do familial DI cases tolerate polyuria better?

Journal of pediatric endocrinology & metabolism : JPEM - 17 Dec 2025

Birinci Hakan, Arslan Emrullah, Değirmenci Tansu, Dündar Bumin N

Abstract excerpt

OBJECTIVES: Familial neurohypophyseal diabetes insipidus (DI) is a rare genetic disorder caused by vasopressin deficiency due to AVP gene mutations. This case report describes the genetic findings and clinical profiles of three generations within a family affected by hereditary central DI and managed with desmopressin. CASE PRESENTATION: An 8-month-old male infant was admitted due to persistent polyuria and...

Topics

Join the communities discussing this publication.

Deamino Arginine Vasopressin
Infant
Mutation
Neurophysins
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Protein Precursors

Source

Identifiers

PMID: 40960368
DOI: 10.1515/jpem-2025-0342

Genes

AVP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Family experience with individuals of different ages and clinical presentations diagnosed with DI: do familial DI cases tolerate polyuria better?PMID 40960368Read ↗

GENETICS IN ENDOCRINOLOGY Pathophysiology, diagnosis and treatment of familial nephrogenic diabetes insipidus.Semantic proximity Read ↗

Familial forms of diabetes insipidus: clinical and molecular characteristics.Semantic proximity Read ↗

A Novel Mutation in the AVPR2 Gene Causing Congenital Nephrogenic Diabetes InsipidusSemantic proximity Read ↗

Identification of five novel arginine vasopressin gene mutations in patients with familial neurohypophyseal diabetes insipidus.Semantic proximity Read ↗

X-linked Nephrogenic Diabetes Insipidus Associated with the AVPR2 c.964C>T (p.Pro322Ser) Variant: A Family Case SeriesSemantic proximity Read ↗

Polyuria and polydipsia in a young child: diagnostic considerations and identification of novel mutation causing familial neurohypophyseal diabetes insipidus.Semantic proximity Read ↗

The natural history of untreated X-linked nephrogenic diabetes insipidus with mutation in the vasopressin V2 receptor gene.Semantic proximity Read ↗

A Novel Pathogenic Variant of the AVPR2 Gene Leading to Arginine Vasopressin Resistance from the Neonatal PeriodSemantic proximity Read ↗

Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care ManagementSemantic proximity Read ↗

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

Nephrogenic diabetes insipidus: a comprehensive overview.Semantic proximity Read ↗

Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.