Title:Genetic Analysis of Gitelman Syndrome: Co-existence with Hyperthyroidism in a Two-year-old Boy
Volume: 21
Issue: 8
Author(s): Shufeng Yu*Caixia Wang
Affiliation:
- Children's Medical Center, Affiliated Hospital of Qingdao University, Qingdao, Shandong,China
Keywords:
Gitelman syndrome, Autoimmune hyperthyroidism, hypokalemia, gene mutation, endocrine, metabolic alkalosis.
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: Several cases of Gitelman syndrome with autoimmune hyperthyroidism have been
reported, most of which were Asian adults, and the case we identified is the first reported case in
children under 14 years with both Gitelman syndrome and autoimmune hyperthyroidism. At the
same time, we carried out a high-precision clinical exosome analysis of the gene of this case and
further explored the relationship between Gitelman syndrome and autoimmune hyperthyroidism
from the perspective of the gene.This case suggests that even children under 6 years with hyperthyroidism
and hypokalemia should be suspected of Gitelman syndrome to avoid misdiagnosis.
