These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: [Cystinosis--an orphan disease. Pathogenesis and current treatment].
    Author: Zachwieja J.
    Journal: Przegl Lek; 2006; 63 Suppl 3():29-31. PubMed ID: 16898482.
    Abstract:
    Cystinosis belongs to, so called, orphan diseases. It is an autosomal recessive lysosomal storage disease caused by defective transport of the amino acid cystine out of lysosomes. The stored cystine is poorly soluble and crystallizes within the lysosomes of many cell types, leading to widespread tissue and organ damage. Patients with the infantile nephropathic form of cystinosis (the most common and the most severe) develop symptoms early on in life and renal failure by late childhood. The current opinion about pathogenesis and treatment of the disease is described.
    [Abstract] [Full Text] [Related] [New Search]