A Case of Myotonic Dystrophy with Electrolyte Imbalance.
10.3346/jkms.2013.28.7.1111
- Author:
Weon Jin KO
1
;
Kwang Yeol KIM
;
So Mi KIM
;
Seung Jae HONG
;
Sang Hoon LEE
;
Ran SONG
;
Hyung In YANG
;
Yeon Ah LEE
Author Information
1. Division of Rheumatology, Department of Internal Medicine, School of Medicine, Kyung Hee University, Seoul, Korea. aprildaum@hanmail.net
- Publication Type:Case Reports
- Keywords:
Myotonic Dystrophy;
Hypernatremia;
Hyperkalemia
- MeSH:
Adult;
Humans;
Hyperkalemia/complications/*diagnosis;
Hypernatremia/complications/*diagnosis;
Hypoaldosteronism/complications/diagnosis;
Kidney Concentrating Ability;
Male;
Myotonic Dystrophy/complications/*diagnosis/*genetics;
Potassium/blood;
Protein-Serine-Threonine Kinases/*genetics;
Sodium/blood
- From:Journal of Korean Medical Science
2013;28(7):1111-1113
- CountryRepublic of Korea
- Language:English
-
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.
