cystinosis

Epidemiology: rare Pathology: 1) impaired efflux of cystine from lysosomes (process requires active ATP-dependent process) 2) lysosomal accumulation of cystine 3) appearance of cystine crystals in cornea, conjunctiva, bone marrow, lymph nodes, leukocytes & internal organs 4) variants a) infantile [nephropathic form] 1] Fanconi syndrome 2] renal insufficiency in 1st decade of life b) juvenile [intermediate form] - renal disease manifested in 2nd decade of life c) adult [benign form] - deposition of cystine in the cornea, but not kidney Genetics: - autosomal recessive - associated with defects in CTNS

References

Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2201-22