Indonesian Journal of Clinical Pathology and Medical Laboratory (IJCPML)
Vol 27, No 1 (2020)

Clinical Gitelman Syndrome with Periodic Paralysis and Anemia

Muhammad Saiful Rahman (Department of Clinical Pathology, Faculty of Medicine, Airlangga University/Dr. Soetomo Hospital, Surabaya)
Leonita Anniwati (Department of Clinical Pathology, Faculty of Medicine, Airlangga University/Dr. Soetomo Hospital, Surabaya)



Article Info

Publish Date
07 Dec 2020

Abstract

Gitelman syndrome is a rare, autosomal recessive, renal tubular salt-wasting disorder characterized by hypokalemia andmetabolic alkalosis combined with hypomagnesemia and hypocalciuria. A 13-year-old male patient came with acute flaccidparalysis, pain, and weakness in limb muscles. Laboratory results showed hypokalemia, hypocalcemia, hypomagnesemia,and metabolic alkalosis accompanied by anemia and elevated serum transaminases. An electrocardiogram test showed aprolonged QT wave. Physical examination showed blood pressure 118/68 mmHg; heart rate 95x/minute; respiration rate 262 x/minute; temperature 37.6⁰C, weight 80 kg, height 160 cm, and BMI 31.25 kg/M . Neurological examination weakness inthe lower limb, negative pathological reflex. Hematology examination showed Hb 9.8 g/dL, MCV 82.3 fL, MCH 26.8 pg,MCHC 32.5 g/dl, WBC 16.87x10³/μL, platelets 320 x10 /μL, serum iron 47 mg/dL, TIBC 229 mg/dL, ferritin 38.45 ng/mL.Peripheral blood smear showed hypochromic microcytic anemia. Blood gas pH 7.47; pCO2 39 mmHg; pO2 44 mmHg;HCO3- 28.4 mmol/l; Beecf 4.7 mmol/l; SO2 83%; AaDO2 114; thus supporting metabolic alkalosis. Cortisol level was 11.39ug/dL, ANA test result was positive at 17.2 IU/mL, the complement level was normal, dsDNA antigen was negative. Due tohypokalemia, hypocalcemia, hypomagnesemia, and metabolic alkalosis, this patient was diagnosed with Gitelmansyndrome with anemia. The diagnosis should be confirmed by molecular DNA diagnostic studies to identify mutations ofthe gene encoding the thiazide-sensitive Na-Cl-cotransporter.

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Journal Info

Abbrev

patologi

Publisher

Subject

Biochemistry, Genetics & Molecular Biology Health Professions Medicine & Pharmacology Neuroscience

Description

Indonesian Journal of Clinical Pathology and Medical Laboratory (IJCPML) is a journal published by “Association of Clinical Pathologist” professional association. This journal displays articles in the Clinical Pathology and Medical Laboratory scope. Clinical Pathology has a couple of ...