A 3-month-old girl is brought to the physician because of poor feeding, irritability, and vomiting for 2 weeks. He is found to have glucosuria on urinalysis, although his serum glucose is within normal limits. What renal defect is responsible for his condition?

Question

A 3-month-old girl is brought to the physician because of poor feeding, irritability, and vomiting for 2 weeks. He is found to have glucosuria on urinalysis, although his serum glucose is within normal limits.  What renal defect is responsible for his condition?

Quizplus · Accepted Answer

Eductional Objective: Fanconi syndrome is an inherited disorder of proximal tubular transport.  Glucose, bicarbonate, calcium, phosphate, and amino acids are lost, leading to a number of metabolic abnormalities.  The classic clinical presentation includes failure to thrive, polyuria, polydipsia, and rickets.

A 3-Month-Old Girl Is Brought to the Physician Because of Poor