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Fanconi Syndrome Bone Disease — RACP Adult Medicine MCQ

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HardNephrologyFanconi Syndrome Bone DiseaseRACP Adult Medicine

A 40-year-old man with known type 2 RTA develops osteomalacia and rickets. What is the main mechanism?

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Correct answer: EProximal tubular phosphate wasting (Fanconi syndrome) causing hypophosphataemia

Type 2 (proximal) RTA often coexists with Fanconi syndrome (generalised proximal tubular dysfunction): phosphaturia → hypophosphataemia → osteomalacia, glycosuria, aminoaciduria, low molecular weight proteinuria. Causes: myeloma, cystinosis, drugs (tenofovir, ifosfamide). Treatment: phosphate and alkali supplementation.

Reference: eTG – 2025 – Nephrology