A 6-year-old boy presents with growth failure, polyuria, bone pain, and generalized weakness. Vital signs show BP 118/76 mmHg, HR 92/min, RR 20/min, temperature 37°C, and SpO2 98% on room air. Laboratory studies demonstrate normal anion gap metabolic acidosis (pH 7.32), serum phosphate 2.1 mg/dL, glucosuria with normal serum glucose (98 mg/dL), and aminoaciduria. Serum creatinine is normal. Renal ultrasound shows no structural abnormalities. Which of the following best explains this disorder?
- A)Autoimmune destruction of alpha intercalated cells
- B)Excess aldosterone activity in the collecting duct
- C)Antibodies against the glomerular basement membrane
- D)Generalized proximal tubular dysfunction causing Fanconi syndromeGABARITO
- E)Postobstructive damage to the medullary collecting duct
Explicação
This child has Fanconi syndrome, a generalized proximal tubule reabsorptive defect that causes bicarbonate wasting, phosphaturia, glucosuria, and aminoaciduria. The resulting proximal renal tubular acidosis can produce rickets or osteomalacia from phosphate lo... Ver explicação completa e trilha adaptativa →