J Korean Med Sci.  2013 Jul;28(7):1111-1113. 10.3346/jkms.2013.28.7.1111.

A Case of Myotonic Dystrophy with Electrolyte Imbalance

• Ko WJ
• Kim KY
• Kim SM
• Hong SJ
• Lee SH
• Song R
• Yang HI
• Lee YA

• KMID: 1777513
• DOI: http://doi.org/10.3346/jkms.2013.28.7.1111

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.

Keyword

Myotonic Dystrophy; Hypernatremia; Hyperkalemia

MeSH Terms

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
Sodium
Potassium
Protein-Serine-Threonine Kinases

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