A Case of Autosomal Recessive Pseudohypoaldosteronism Type 1 with a Novel Mutation in the SCNN1A Gene
Journal of the Korean Society of Pediatric Nephrology
;
: 137-142, 2013.
Artigo
em Coreano
| WPRIM
| ID: wpr-138366
ABSTRACT
Pseudohypoaldosteronism (PHA) is a condition characterized by renal salt wasting, hyperkalemia, and metabolic acidosis due to renal tubular resistance to aldosterone. Systemic PHA1 is a more severe condition caused by defective transepithelial sodium transport due to mutations in the genes encoding the alpha (SCNN1A), beta (SCNN1B), or gamma (SCNN1G) subunits of the epithelial sodium channel at the collecting duct, and involves the sweat glands, salivary glands, colon, and lung. Although systemic PHA1 is a rare disease, we believe that genetic studies should be performed in patients with normal renal function but with high plasma renin and aldosterone levels, without a history of potassium-sparing diuretic use or obstructive uropathy. In the present report, we describe a case of autosomal recessive PHA1 that was genetically diagnosed in a newborn after severe hyperkalemia was noted.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Plasma
/
Glândulas Salivares
/
Sódio
/
Glândulas Sudoríparas
/
Acidose
/
Pseudo-Hipoaldosteronismo
/
Renina
/
Colo
/
Doenças Raras
/
Aldosterona
Limite:
Humanos
/
Recém-Nascido
Idioma:
Coreano
Revista:
Journal of the Korean Society of Pediatric Nephrology
Ano de publicação:
2013
Tipo de documento:
Artigo
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