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KMID : 0191120130280071111
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Journal of Korean Medical Science
2013 Volume.28 No. 7 p.1111 ~ p.1113
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A Case of Myotonic Dystrophy with Electrolyte Imbalance
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Ko Weon-Jin
Kim Kwang-Yeol
Kim So-Mi
Hong Seung-Jae
Lee Sang-Hoon
Song Ran
Yang Hyung-In
Lee Yeon-Ah
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Abstract
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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.
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KEYWORD
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Myotonic Dystrophy, Hypernatremia, Hyperkalemia
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