학술논문
A Japanese girl with aldosterone synthase deficiency requiring fludrocortisone until 10 years of age.
Document Type
Case Study
Source
Subject
*JAPANESE people
*GENETIC mutation
*DIFFERENTIAL diagnosis
*HYPONATREMIA
*PSYCHOSOCIAL factors
*OXIDOREDUCTASES
*ALDOSTERONE
*HYPOALDOSTERONISM
*HYDROCORTISONE
*FAILURE to thrive syndrome
*CHILDREN
*
*
*
*
*
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*
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*
Language
ISSN
1328-8067
Abstract
The article focuses on a Japanese girl with aldosterone synthase deficiency (ASD), a rare autosomal recessive disorder causing severe dehydration, salt wasting, and failure to thrive in infancy due to CYP11B2 gene variants. Topics discussed include the patient's clinical presentation, genetic analysis revealing compound heterozygous variants, successful fludrocortisone therapy, and the overall good prognosis of ASD with decreasing treatment needs in adulthood.