A Case of Myotonic Dystrophy with Electrolyte Imbalance
Journal of Korean Medical Science
;
: 1111-1113, 2013.
Artigo
em Inglês
| WPRIM
| ID: wpr-86241
ABSTRACT
Type 1 myotonic dystrophy (DM1) is an autosomal-dominant inherited disorder with a multisystem involvement, caused by an abnormal expansion of the CTG sequence of the dystrophic myotonia protein kinase (DMPK) gene. DM1 is a variable multisystem disorder with muscular and nonmuscular abnormalities. Increasingly, endocrine abnormalities, such as gonadal, pancreatic, and adrenal dysfunction are being reported. But, Electrolytes imbalance is a very rare condition in patients with DM1 yet. Herein we present a 42-yr-old Korean male of DM1 with abnormally elevated serum sodium and potassium. The patient had minimum volume of maximally concentrated urine without water loss. It was only cured by normal saline hydration. The cause of hypernatremia was considered by primary hypodipsia. Hyperkalemic conditions such as renal failure, pseudohyperkalemia, cortisol deficiency and hyperkalemic periodic paralysis were excluded. Further endocrine evaluation suggested selective hyperreninemic hypoaldosteronism as a cause of hyperkalemia.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Potássio
/
Sódio
/
Hipoaldosteronismo
/
Proteínas Serina-Treonina Quinases
/
Hiperpotassemia
/
Hipernatremia
/
Capacidade de Concentração Renal
/
Distrofia Miotônica
Limite:
Adulto
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
2013
Tipo de documento:
Artigo
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