title: A case of myotonic dystrophy with electrolyte imbalance.
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.
authors.affiliation: Division of Rheumatology, Department of Internal Medicine, School of Medicine, Kyung Hee University, Seoul, Korea.
authors.forename: Weon-Jin
authors.initials: WJ
authors.lastname: Ko
authors.forename: Kwang-Yeol
authors.initials: KY
authors.lastname: Kim
authors.forename: So-Mi
authors.initials: SM
authors.lastname: Kim
authors.forename: Seung-Jae
authors.initials: SJ
authors.lastname: Hong
authors.forename: Sang-Hoon
authors.initials: SH
authors.lastname: Lee
authors.forename: Ran
authors.initials: R
authors.lastname: Song
authors.forename: Hyung-In
authors.initials: HI
authors.lastname: Yang
authors.forename: Yeon-Ah
authors.initials: YA
authors.lastname: Lee
mesh_terms: D000328:Adult; D006801:Humans; D006947:Hyperkalemia / Q000150:complications / Q000175:diagnosis*; D006955:Hypernatremia / Q000150:complications / Q000175:diagnosis*; D006994:Hypoaldosteronism / Q000150:complications / Q000175:diagnosis; D007671:Kidney Concentrating Ability; D008297:Male; D009223:Myotonic Dystrophy / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D011188:Potassium / Q000097:blood; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012964:Sodium / Q000097:blood
chemical_list: C585517:DMPK protein, human; D012964:Sodium; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases; D011188:Potassium
keywords: Hyperkalemia; Hypernatremia; Myotonic Dystrophy