Disease name

항이뇨 호르몬 분비 이상 증후군
 Inappropriate antidiuretic hormone secretion syndrome

Marker gene

Gene symbol Chromosome location Protein name
AVPR2 Xq28 Vasopressin V2 receptor

Prevalence

<1 / 1 000 000

Inheritance

X 연관 열성

Age of onset

신생아기, 영아기

ICD 10 code

E22.2

MIM number

300539

Synonym

SIADH

Summary

Syndrome of inappropriate antidiuretic hormone (ADH) secretion (SIADH) is characterized by continued ADH secretion, leading to hyponatremia, hypoosmolality and natriuresis. Exact prevalence is unknown. The disease has been described in all age groups. SIADH is often associated with tumors, pulmonary disease, central nervous system disorders or exposure to drugs. Occasionally, it is found in patients with adrenal, thyroid or pituitary insufficiency. The disorder is caused by gain-of-function mutations in the gene encoding the vasopression V2 receptor. Fluid restriction is the most common treatment. The outcome is related to the underlying and associated disorders.