Article
Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome.
Archives of medical research - 1 Sept 2023
Hernández Norma E Guerra, Pérez Laura I Escobar, Aguilera Dora, Camargo-Muñiz María Dolores, Espinosa Cinthya Fabiola Ceceña, Jaramillo María de la Cruz Ruiz, Salvador Carolina, González Zinaeli López, Hureaux Marguerite, Vargas-Poussou Rosa
Abstract excerpt
BACKGROUND: Bartter's syndrome (BS) is a group of salt-wasting tubulopathies characterized by hypokalemia, metabolic alkalosis, hypercalciuria, secondary hyperaldosteronism, and low or normal blood pressure. Loss-of-function variants in genes encoding for five proteins expressed in the thick ascending limb of Henle in the nephron, produced different genetic types of BS. AIM: Clinical and genetic analysis of...
Topics
- Humans
- Female
- Pregnancy
- Bartter Syndrome
- Homozygote
- Sequence Deletion
- Heterozygote
- Mutation
- Antigens, Neoplasm
- Adaptor Proteins, Signal Transducing