A 7-year-old boy presents with growth delay and bone pain. Vital signs show BP 118/76 mmHg, HR 92 bpm, RR 20/min, temp 37°C, SpO2 98%. Labs reveal metabolic acidosis (pH 7.28), serum creatinine 1.2 mg/dL, glucosuria with normal serum glucose 95 mg/dL, aminoaciduria, and phosphaturia. Skeletal survey demonstrates rickets. He denies polyuria. Which diagnosis best explains this constellation of proximal tubule dysfunction with chronic kidney disease?
- A)Renal artery stenosis
- B)Fanconi syndromeGABARITO
- C)Nephrogenic diabetes insipidus
- D)Liddle syndrome
- E)Type 1 renal tubular acidosis
Explicação
Fanconi syndrome is correct. Generalized proximal tubular dysfunction causes urinary wasting of bicarbonate, glucose, phosphate, uric acid, and amino acids. The resulting phosphate loss contributes to rickets or osteomalacia, and the bicarbonate loss produces ... Ver explicação completa e trilha adaptativa →