cystinosis

Epidemiology

rare

Pathology

• impaired efflux of cystine from lysosomes (process requires active ATP-dependent process)
• lysosomal accumulation of cystine
• appearance of cystine crystals in cornea, conjunctiva, bone marrow, lymph nodes, leukocytes & internal organs
• variants
  • infantile [nephropathic form]
    • Fanconi syndrome
    • renal insufficiency in 1st decade of life
  • juvenile [intermediate form]
    • renal disease manifested in 2nd decade of life
  • adult [benign form]
    • deposition of cystine in the cornea, but not kidney

Genetics

• autosomal recessive
• associated with defects in CTNS

More general terms

• inborn error of metabolism

Additional terms

• cystinuria

Database

• OMIM: https://mirror.omim.org/entry/219800
• OMIM: https://mirror.omim.org/entry/219900
• OMIM: https://mirror.omim.org/entry/219750