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.

journal_name

J Korean Med Sci

authors

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

doi

10.3346/jkms.2013.28.7.1111

subject

Has Abstract

pub_date

2013-07-01 00:00:00

pages

1111-3

issue

7

eissn

1011-8934

issn

1598-6357

journal_volume

28

pub_type

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