Discover Community Create You

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

Nephrogenic diabetes insipidus (NDI): clinical, laboratory and genetic characterization of five Brazilian patients.

Clinics (Sao Paulo, Brazil) - 1 May 2009

Vaisbich Maria Helena, Carneiro Juliana, Bóson Wolfanga, Resende Bruna, De Marco Luiz, Honjo Rachel S, Kim Chong Ae, Koch Vera H

Abstract excerpt

INTRODUCTION: Nephrogenic diabetes insipidus is characterized by a lack of response in the distal nephron to the antidiuretic hormone arginine vasopressin. Manifestations include polyuria, polydipsia, hyposthenuria, recurrent episodes of dehydration and fever and growth failure. Most cases are caused by mutations in the AVPR2 gene. The mutant receptors are trapped intracellularly. METHOD: We studied five boys...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Body Height
Share to Body Weight

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Brazil

Share to Diabetes Insipidus, Nephrogenic

Share to Follow-Up Studies

Share to Receptors, Vasopressin

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 19488606
DOI: 10.1590/s1807-59322009000500007
PMCID: PMC2694244

Genes

AVPR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Nephrogenic diabetes insipidus (NDI): clinical, laboratory and genetic characterization of five Brazilian patients.PMID 19488606Read ↗

Nephrogenic diabetes insipidus.Semantic proximity Read ↗

Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.Semantic proximity Read ↗

Genetic basis of nephrogenic diabetes insipidus.Semantic proximity Read ↗

Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.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 ↗

Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update.Semantic proximity Read ↗

V2R mutations and nephrogenic diabetes insipidus.Semantic proximity Read ↗

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

Nephrogenic diabetes insipidus.Semantic proximity Read ↗

Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment.Semantic proximity Read ↗

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

Genetic analysis of nephrogenic diabetes insipidus patients: A study on the Iranian population.Semantic proximity Read ↗

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