Unmasking of a Heterozygous SLC12A3 Variant
Abstract
Three months after starting 25 mg chlorthalidone a patient was admitted to the medical intensive care unit to manage hypokalemia, metabolic alkalosis, hypo-osmolar hyponatremia, hyperglycemia and 30 lb weight loss.The patient received ~936 meq potassium (K) over 8 days, of which 456 meq was administered during the first two days of admission.In the first 24 hours the individual received intravenous fluids that delivered 406 meq sodium chloride (NaCl).By day two, serum K increased from 2.5 meq/L to 3.0 meq/L, the bicarbonate fell from 40 to 35 meq/L, the serum Na improved from 121 to 134 meq/L and serum glucose improved from 400s to 200s mg/dL.On day 4 the serum chemistries normalized.Twenty-four hours after admission, the serum aldosterone and renin were unremarkable and brain natriuretic peptide
Fields of Study & Subjects
Genomic variations and chromosomal abnormalities
Glycogen Storage Diseases and Myoclonus
Enzyme Structure and Function
Publication details
- Journal / source
- Kidney Medicine
- Publisher
- Elsevier BV
- Volume
- 8
- Issue
- 3
- Pages
- 101255–101255
- Publication date
- 10 January 2026
- Language
- EN