Abstract

A 6-month-old female infant was referred for evaluation of failure to thrive and episodes of cough and shortness of breath for three days. She was born with a weight of 4750 gr, following a full-term normal pregnancy as the second child of consanguineous Turkish parents. In her family history; her brother died due to metabolic acidosis with an unknown etiology when he was eight months old. Her physical examination findings were as follows: weight 5700 g (25-50 p), height 55 cm (3-10 p), head circumference 39 cm (3-10 p), blood pressure 80/50 mmHg (<90 p/<90 p), pulse rate 180 beats/min, respiratory rate 60/min, and body temperature 370 C. The patient was found to have skin pallor and altered sensorium. There were wheezing and fine crackles in her respiratory examination and her liver was palpable 2 cm below the right costal margin. Laboratory data were as follows; hemoglobin (Hb) 9.2 gr/dl, hematocrit (Htc) 28.5%, white blood cells (WBC) 24.700/mm3, platelet count 499.000/mm3, erythrocyte sedimentation rate 58 mm/h, serum creatinine 4.4 mg/dl, urea 102 mg/dl, creatinin clearance 8 ml/min/1.73 m2, total protein 5.4 gr/dl, albumin 3.3 gr/dl, sodium (Na+) 141 mmol/l, potassium (K+) 3.5 mmol/l, calcium (Ca++) 9.6 mg/dl, phosphorus (P+) 9.8 mg/dl, pH 7.24, pCO2 28 mmHg, bicarbonate 11 mEq/l, base excess -14. Urinary sodium 54 mmol/l (N: 40-220 mmol/l) and chloride 126 mmol/l (N: 112-150 mmol/l) levels were normal. Plain abdominal radiography showed big kidneys which were almost at bone density (Figure 1).

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