A young female with Spitzer-Weinstein syndrome diagnosed by thiazide test.
Spitzer-Weinstein syndrome is a rare disorder characterized by thiazide responsive hyperkalemia and normal anion gap metabolic acidosis, similar to Gordon syndrome. The hyperfunction of thiazide-sensitive Na+-Cl- cotransporter (TSC) is the main pathophysiological mechanism. We presented a 19-year-old female with short stature, normal blood pressure, persistently elevated serum potassium, and metabolic acidosis. The diagnosis of Spitzer-Weinstein Syndrome was made by clinical pictures and thiazide test. After taking 4 mg hydrochlorothiazide, her daily urine potassium excretion increased from 18.1 mmol to 41.8 mmol, urine pH decreased from 7.32 to 6.50, and urinary net charge decreased from 65.7 to 54.4. This patient then took hydrochlorothiazide 4 mg daily. The persistent hyperkalemia and metabolic acidosis were corrected. Thiazide, a powerful inhibitor of TSC, proved to be a useful tool for the diagnosis and treatment of Spitzer-Weinstein syndrome.
Weng
Cheng-Hao
CH
Department of Nephrology, Chang Gung Memorial Hospital and Chang Gung University, Taipei, Taiwan.
Cheng
Jen-Wei
JW
Hung
Chen-Chieh
CC
Wu
Mai-Szu
MS
Yang
Chih-Wei
CW
Chang
Chiz-Tzung
CT
D000141:Acidosis, Renal Tubular / Q000175:diagnosis; D000328:Adult; D002712:Chlorides / Q000652:urine; D004231:Diuresis / Q000187:drug effects; D005260:Female; D006801:Humans; D006947:Hyperkalemia / Q000175:diagnosis*; D011188:Potassium / Q000652:urine; D013577:Syndrome; D049971:Thiazides
D002712:Chlorides; D049971:Thiazides; D011188:Potassium