Abstract: SA-PO0189
Unexplained Polycythemia in a Patient with Gitelman Syndrome
Session Information
- Tubular, Metabolic, and Systemic Noncystic Genetic Kidney Diseases
October 24, 2026 | Location: Exhibit Hall A, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Non-Cystic (Complex and Non-Cystic Monogenic)
Authors
- Thomas, Serena C., University of Illinois Chicago College of Medicine, Chicago, Illinois, United States
- Whittier, William Luke, Rush University Medical Center, Chicago, Illinois, United States
Introduction
Gitelman syndrome (GS) is an acquired or familial salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, hypercalciuria, and secondary hyperreninemic hyperaldosteronism. While GS is typically associated with volume depletion, hypotension, fatigue, and electrolyte abnormalities, erythrocytosis has not been well described. We present a patient with longstanding GS and persistent polycythemia after exclusion of common primary and secondary causes, giving rise to a possible association between the two disorders.
Case Description
A 59-year-old Caucasian woman with Gitelman syndrome diagnosed in 1995 was followed for chronic electrolyte abnormalities. She was maintained on amiloride 50 mg daily, potassium supplementation (140 mEq/day), and magnesium oxide 800 mg daily with stable electrolyte levels and normal eGFR. Over the preceding decade, she developed progressively elevated hemoglobin concentrations, from 15.6 g/dL in 2016 to 17–18 g/dL by 2026.
Evaluation for polycythemia demonstrated a serum erythropoietin level of 12.7 mIU/mL (ref range 2.6–18.5), indicating a non-suppressed value. Testing for JAK2 V617F and BCR-ABL mutations was negative, and the peripheral blood smear was normal. Renal imaging revealed no renal masses, and dopplers demonstrated no renovascular disease. Transthoracic echocardiography showed preserved ejection fraction without evidence of intracardiac shunt, and pulmonary function testing was normal. There was no history of smoking, chronic lung disease, or exogenous androgen or erythropoietin use. The polycythemia remained unexplained after comprehensive evaluation.
Discussion
This case describes a previously unreported association between Gitelman syndrome and persistent polycythemia. Chronic volume contraction, sustained renin-angiotensin-aldosterone system activation, and renal hypoxia-related erythropoietin signalling (hypoxia inducible factors) may contribute to erythrocytosis in GS, though these mechanisms remain speculative. Recognition of this potential association is clinically important, as unexplained polycythemia may prompt excessive hematologic evaluation and obscure an underlying renal etiology. Overall, persistent polycythemia may occur in patients with Gitelman syndrome even in the absence of identifiable primary or secondary causes. Awareness of this possible association may broaden the recognized phenotypic spectrum of GS and inform diagnostic evaluation.