Endocrine Abstracts

İntroduction: Gitelman syndrome is characterized with hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis and neurological symptoms like muscle weakness. The association of GS and type 1 diabetes is rare, only described in a few case reports. We report a patient with unusual combination of Gitelman syndrome, Type 1 Diabetes Mellitus whose presentation was erytrocytosis.

Case: A 26-year old male was diagnosed as Gitelman’s syndrome 5 years ago. After 2 years of his diagnosis he was diagnosed as type 1 diabetes. He was on insulin therapy. 3 years after his diagnosis of type 1 diabetes he was referred to our hospital with poor glycemic control and headache. Further hematological and biochemical work-up showed; increased hemoglobin (18.9 g/dl (13.6–17.2 g/dl)), increased hematocrit (54.8% (39.5–50.3%)), hyperglycemia (246 mg/dl (75–99 mg/dl)), hypokalemia (2.62 mmol/l (3.5–5 mmol/l)), hypochloremia (92 mmol/l (96–110 mmol/l)), elevated renin (592 pg/ml (0.2–27.8 pg/ml)), slightly elevated aldosterone (525 pg/ml (30–313 pg/ml)). GFR was 109 ml/min (Cockgroft-Gault formula). Erythropoietin (EPO) level was 23.4 mU/ml (3.7–31.5 mU/ml) and JAK2 V617F gene mutation was negative. A bone marrow aspiration biopsy revealed a hypercellular marrow with increased erythroid precursors, megacaryocytes and granulocytes. His chest radiography, abdominal ultrasound, echocardiography were normal.

Discussion: Concomitant presence of GS with a type 1 diabetic patient complicated the treatment of glycemia because of hypokalemia. Both type 1 diabetes and Gitelman syndrome have effects on kidneys and the primary site of erythropoietin production is kidney. There must be a 40–45% reduction in the plasma volume to explain the higher hemoglobin concentration without a rise in the red blood cell mass. In our case, GFR was in normal range and there was no evidence of hypovolemia or proteinuria that might cause renin angiotensin axis overstimulation. We excluded cronic myeloid neoplasm. In conclusion, our patient besides having Gitelman syndrome and type 1 diabetes was complicated with idiopathic erythrocytosis, all having deleterious effects on hemodynamic features of the patient.