Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Mais filtros








Base de dados
Tipo de estudo
Intervalo de ano de publicação
1.
Probl Endokrinol (Mosk) ; 69(2): 75-79, 2023 May 12.
Artigo em Russo | MEDLINE | ID: mdl-37448274

RESUMO

Congenital nephrogenic diabetes insipidus (CNDI, arginine vasopressin resistance) is a rare inherited disorder characterized by insensitivity of the kidney to the antidiuretic effect of vasopressin. NDI is clinically characterized by polyuria with hyposthenuria and nocturia and polydipsia. In the majority of cases, about 90%, nephrogenic diabetes insipidus is an X-linked recessive disorder caused by mutations in the AVP V2 receptor gene (AVPR2). In the remaining cases, about 10%, the disease is autosomal recessive or dominant and, for these patients, mutations in the aquaporin 2 gene (AQP2) have been reported. To date, the nucleotide variants registered in AQP2 were sporadic, there is no data on the presence of «frequent¼ mutations and the prevalence of the disease both among the global population and among individual ethnic groups. In this paper, we describe 12 cases of arginine vasopressin resistance caused by a new homozygous mutation p.R113C in AQP2 presented among the indigenous population of the Republic of Buryatia.


Assuntos
Aquaporina 2 , Diabetes Insípido Nefrogênico , Humanos , Aquaporina 2/genética , Arginina Vasopressina/genética , Mutação , Diabetes Insípido Nefrogênico/genética , Vasopressinas/genética
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA