Title |
Cystinosis: a review
|
---|---|
Published in |
Orphanet Journal of Rare Diseases, April 2016
|
DOI | 10.1186/s13023-016-0426-y |
Pubmed ID | |
Authors |
Mohamed A. Elmonem, Koenraad R. Veys, Neveen A. Soliman, Maria van Dyck, Lambertus P. van den Heuvel, Elena Levtchenko |
Abstract |
Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment. Defective cystinosin function leads to intra-lysosomal cystine accumulation in all body cells and organs. The kidneys are initially affected during the first year of life through proximal tubular damage followed by progressive glomerular damage and end stage renal failure during mid-childhood if not treated. Other affected organs include eyes, thyroid, pancreas, gonads, muscles and CNS. Leucocyte cystine assay is the cornerstone for both diagnosis and therapeutic monitoring of the disease. Several lines of treatment are available for cystinosis including the cystine depleting agent cysteamine, renal replacement therapy, hormonal therapy and others; however, no curative treatment is yet available. In the current review we will discuss the most important clinical features of the disease, advantages and disadvantages of the current diagnostic and therapeutic options and the main topics of future research in cystinosis. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Argentina | 1 | 11% |
Ireland | 1 | 11% |
United States | 1 | 11% |
United Kingdom | 1 | 11% |
Unknown | 5 | 56% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 6 | 67% |
Scientists | 2 | 22% |
Science communicators (journalists, bloggers, editors) | 1 | 11% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | <1% |
Unknown | 250 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 30 | 12% |
Student > Bachelor | 30 | 12% |
Researcher | 28 | 11% |
Student > Master | 21 | 8% |
Other | 20 | 8% |
Other | 37 | 15% |
Unknown | 85 | 34% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 67 | 27% |
Biochemistry, Genetics and Molecular Biology | 45 | 18% |
Agricultural and Biological Sciences | 15 | 6% |
Pharmacology, Toxicology and Pharmaceutical Science | 14 | 6% |
Nursing and Health Professions | 4 | 2% |
Other | 19 | 8% |
Unknown | 87 | 35% |