Cystinosis - Causes, Symptoms, Diagnosis and Management
Learn about cystinosis in this 11-minute medical education video that explores this genetic autosomal recessive disease caused by CTNS gene mutation. Discover how this lysosomal storage disease affects the proximal convoluted tubule of the kidney, leading to Fanconi syndrome and type-2 renal tubular acidosis. Understand the pathophysiology of cystine accumulation in lysosomes, resulting in crystal formation throughout the body, and explore its various manifestations including cystinuria, hexagonal kidney stones, hypophosphatemic rickets, and corneal crystal deposits causing photophobia. Master the comprehensive treatment approaches, including the use of cysteamine, proper hydration techniques, urine alkalinization with sodium bicarbonate, chelation therapy, and endoscopic laser lithotripsy procedures.