“Diagnosis of Gitelman Syndrome in a Diabetic Patient with Compound Heterozygous SLC12A3 Mutation Improves Symptoms and Electrolyte Levels with Personalized Medication Plans”

https://pubmed.ncbi.nlm.nih.gov/38115360

In a patient with diabetes and suboptimal glycemic control, the identification of a compound heterozygous mutation within the SLC12A3 gene led to the diagnosis of Gitelman syndrome, and personalized medication plans significantly improved the patient’s symptoms and electrolyte levels.