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Home > West Medicine > Pediatrics > Pediatric Internal Med

Classroom classification

百科

Cystinosis in children

儿科综合

Common symptoms

代谢性酸中毒、氨基酸尿症、氮质血症、畏光、维生素D缺乏、多尿、糖尿、视网膜Roth斑

The pathology of disease

Cystinosis in children is lysosomal cystine storage; Fanconi syndrome; growth failure; corneal crystals; nephropathic; cysteamine; renal transplant; pediatric nephrology/genetics.

Symptoms

Fanconi; growth failure; photophobia; corneal crystals; infant; renal failure; cystinosis

Causes

CTNS mutation; AR; cystine storage; cystinosis.

Treatment

Cysteamine; renal transplant; eye drops; pediatric nephrology/genetics; lifelong

Dept

Pediatric nephrology / pediatrics / genetics / ophthalmology.

Warm reminder: Health education reference only; seek care at regular hospital.

Family room

儿科综合Overview of the Western Medical Room