Central Diabetes Insipidus in Father and Son Linked to a Rare Variant: A Case Report Article Swipe
Paula Bruna Araújo
,
Luís Correia Sá
,
Rafaela Sousa
,
Darine Villela
,
Thereza Taylanne Souza Loureiro Cavalcanti
,
Michele Patricia Migliavacca
,
Marília M. Guimarães
,
Micheline Souza
,
Erika Naliato
,
Mariana Botelho
,
João Agnaldo do Nascimento
,
Mirna Sanchez Carvallo
,
Pedro Viveiros
,
Delmar Muniz Lourenço
,
Rosita Fontes
,
A Violante
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1159/000543795
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1159/000543795
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 AVP gene, in heterozygosity, which segregated in the parent-child pair, thereby elucidating the familial basis of the CDI. Conclusion: This rare germline AVP variant causes a cysteine-to-tyrosine amino acid substitution in the encoded protein and is classified as pathogenic. Familial cases of rare diseases, such as CDI, highlight the importance of clinical evaluation of relatives with similar symptoms and emphasize the need for molecular studies and genetic counseling.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1159/000543795
- OA Status
- gold
- References
- 32
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4407342426
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4407342426Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1159/000543795Digital Object Identifier
- Title
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Central Diabetes Insipidus in Father and Son Linked to a Rare Variant: A Case ReportWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2025Year of publication
- Publication date
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2025-02-07Full publication date if available
- Authors
-
Paula Bruna Araújo, Luís Correia Sá, Rafaela Sousa, Darine Villela, Thereza Taylanne Souza Loureiro Cavalcanti, Michele Patricia Migliavacca, Marília M. Guimarães, Micheline Souza, Erika Naliato, Mariana Botelho, João Agnaldo do Nascimento, Mirna Sanchez Carvallo, Pedro Viveiros, Delmar Muniz Lourenço, Rosita Fontes, A ViolanteList of authors in order
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https://doi.org/10.1159/000543795Publisher landing page
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YesWhether a free full text is available
- OA status
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goldOpen access status per OpenAlex
- OA URL
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https://doi.org/10.1159/000543795Direct OA link when available
- Concepts
-
Diabetes insipidus, Medicine, Diabetes mellitus, Wolfram syndrome, Pediatrics, EndocrinologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
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0Total citation count in OpenAlex
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10Other works algorithmically related by OpenAlex
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