Affiliation:
1. Children's Medical Center, Affiliated Hospital of Qingdao University, Qingdao, Shandong, China
Abstract
Case Presentation:
A two-year-old boy visited the doctor for hypokalemia and metabolic
alkalosis. Laboratory examination revealed that urinary potassium excretion and serum aldosterone
level were increased, with hyperthyroidism and thyroid-related antibodies positive at the same
time. Genetic testing showed that there was a complex heterozygous mutation in the SLC12A3
gene, c.1077C>G (p.N359K) and c.1567G>A (p.A523?); the final diagnosis was Gitelman syndrome
and autoimmune hyperthyroidism.
Background:
Gitelman syndrome is an autosomal recessive genetic disease caused by the inactivation
of mutation of the SLC12A3 gene. The onset age is more than 6 years old; it is mainly manifested
as low blood potassium, low blood sodium, low blood chlorine, metabolic alkalosis, increased
urine potassium and urine chlorine excretion, and low urine calcium. Autoimmune hyperthyroidism
manifests due to autoimmune disorders. The highest incidence rate in children is of
Graves' disease, followed by chronic lymphocytic thyroiditis.
Conclusion:
Publisher
Bentham Science Publishers Ltd.
Subject
Immunology and Allergy,Endocrinology, Diabetes and Metabolism
Cited by
4 articles.
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