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Central Diabetes Insipidus in Father and Son Linked to a Rare Variant: A Case Report.

Paula Bruna Mattos Coelho Araujo, Luiz Filipe Rocha de Sá, Rafaela Sousa, Darine Villela, Thereza Taylanne Souza Loureiro Cavalcanti, Michele Patricia Migliavacca, Marilia Martins Guimaraes, Micheline Abreu Rayol Souza, Erika Naliato, Mariana Botelho and 6 more

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Article in Biomedicine hub. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors.

Paula Bruna Mattos Coelho AraujoPós-graduação em Endocrinologia, Faculdade de Medicina, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Luiz Filipe Rocha de SáHospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Rafaela SousaFaculdade de Medicina, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Darine VillelaDiagnósticos da América S.A., DASA, São Paulo, Brazil.
Thereza Taylanne Souza Loureiro CavalcantiDiagnósticos da América S.A., DASA, São Paulo, Brazil.
Michele Patricia MigliavaccaDiagnósticos da América S.A., DASA, São Paulo, Brazil.
Marilia Martins GuimaraesPós-graduação em Endocrinologia, Faculdade de Medicina, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Micheline Abreu Rayol SouzaInstituto de Puericultura e Pediatria Martagão Gesteira, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Erika NaliatoRicardo A T Castilho Center of Studies, Teresopolis Medical Association, Teresopolis, Brazil.
Mariana BotelhoFaculdade de Medicina, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
João Bosco NascimentoHospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Mirna Sanchez CarvalloHospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Pedro Martins ViveirosFaculdade de Medicina, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Delmar Muniz Lourenço JuniorHospital das Clínicas FMUSP, School of Medicine, Universidade de São Paulo, São Paulo, Brazil.
Rosita FontesDiagnósticos da América S.A., DASA, São Paulo, Brazil.
Alice Helena Dutra ViolantePós-graduação em Endocrinologia, Faculdade de Medicina, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Central diabetes insipidus (CDI) is a rare disorder caused by a deficiency in the secretion of arginine vasopressin (AVP) from the posterior pituitary. It can be either acquired or congenital, often due to genetic factors, and is typically inherited in an autosomal dominant manner. Case Presentation: This study describes the clinical features and the genetic analysis of a father and his son with familial CDI. Both presented in childhood with typical symptoms, including polyuria, polydipsia, and hypernatremia. Diagnosis was confirmed through water deprivation testing and subsequently supported by sellar magnetic resonance imaging. Genetic analysis identified the rare germline variant c.329G>A (p.Cys110Tyr) in the Conclusion: This rare germline

Indexed as

Arginine vasopressinAVP gene mutationCase reportCentral diabetes insipidusFamilial neurohypophyseal diabetes insipidus

Identifiers

PMID40606010
PMCPMC12215092

What Socratic holds

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.