Central Diabetes Insipidus in Father and Son Linked to a Rare Variant: A Case Report
This rare germline <i>AVP</i> 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.
Authors
- Thereza Taylanne Souza Loureiro Cavalcanti
- Erika Naliato (ORCID: https://orcid.org/0000-0001-6612-2180)
- Luís Correia Sá (ORCID: https://orcid.org/0000-0002-6534-9196)
- Mariana Botelho (ORCID: https://orcid.org/0000-0002-5197-7159)
- João Agnaldo do Nascimento (ORCID: https://orcid.org/0000-0002-7314-4844)
- A Violante (ORCID: https://orcid.org/0000-0001-8721-501X)
- Rosita Fontes (ORCID: https://orcid.org/0000-0002-2628-0886)
- Michele Patricia Migliavacca (ORCID: https://orcid.org/0000-0003-0405-6039)
- Delmar Muniz Lourenço (ORCID: https://orcid.org/0000-0003-1147-4159)
- Mirna Sanchez Carvallo
- Darine Villela (ORCID: https://orcid.org/0000-0002-5930-5269)
- Marília M. Guimarães (ORCID: https://orcid.org/0000-0001-7831-354X)
- Pedro Viveiros
- Micheline Souza
- Paula Bruna Araújo
- Rafaela Sousa
Institutions
- Universidade Federal do Rio de Janeiro (BR)
- Centro Universitário Serra dos Órgãos (BR)
- Hospital Universitário Clementino Fraga Filho (BR)
- Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (BR)
- DASA (Brazil)
Publication Details
- Journal
- Biomedicine Hub
- Published
- 2025-02-07
- DOI
- https://doi.org/10.1159/000543795
- Primary Topic
- Electrolyte and hormonal disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro