Two unusual cases of Gitelman's syndrome with a complex inheritance: how the phenotype can help interpret the genotype: lesson for the clinical nephrologist.

Calò, Lorenzo A; Palazzo, Viviana; Salviati, Leonardo; Anglani, Franca

Calò, Lorenzo A; Palazzo, Viviana; Salviati, Leonardo; Anglani, Franca.

Afiliación

Calò LA; Nephrology, Dialysis and Transplantation Unit, Kidney Histomorphology and Molecular Biology Laboratory, Department of Medicine-DIMED, University of Padova, Padova, Italy.
Palazzo V; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.
Salviati L; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.
Anglani F; Nephrology, Dialysis and Transplantation Unit, Kidney Histomorphology and Molecular Biology Laboratory, Department of Medicine-DIMED, University of Padova, Padova, Italy. franca.anglani@unipd.it.

J Nephrol ; 34(4): 1327-1330, 2021 Aug.

Article en En | MEDLINE | ID: mdl-32926342

Asunto(s)

Síndrome de Gitelman; Hipopotasemia; Adulto; Preescolar; Femenino; Genotipo; Síndrome de Gitelman/diagnóstico; Síndrome de Gitelman/genética; Humanos; Masculino; Herencia Multifactorial; Nefrólogos; Fenotipo

Palabras clave

Bartter's syndrome; Blended phenotype; Complex inheritance; Distal renal tubular acidosis; Genetic modifiers; Gitelman's syndrome; KCNJ1; SLC12A3; SLC4A1

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Gitelman / Hipopotasemia Tipo de estudio: Diagnostic_studies Límite: Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: J Nephrol Asunto de la revista: NEFROLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Italia

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google