Clinical Presentation & Protocol
Patient Usually Complains Of
Patient presents with a history of persistent low molecular weight proteinuria, hypercalciuria, and recurrent nephrolithiasis. Clinical course characterized by progressive proximal tubular dysfunction (Fanconi-like syndrome). Family history significant for X-linked inheritance pattern in male relatives. Current symptoms include polyuria, polydipsia, and intermittent flank pain.
Clinical Examination Findings
General appearance: Patient may show signs of growth retardation or rickets if pediatric. Vitals: Monitor for hypertension. Renal exam: Tenderness at costovertebral angle (CVA) may be present. Skin: Evaluate for signs of dehydration due to polyuria.
Treatment Protocol
Management focuses on supportive care: High fluid intake to prevent nephrolithiasis. Thiazide diuretics to reduce hypercalciuria (monitor for hypokalemia). Potassium citrate supplementation to correct metabolic acidosis and prevent stone formation. ACE inhibitors or ARBs for proteinuria management and nephroprotection. Regular monitoring of GFR and serum electrolytes.