Title |
Cystinosis: the evolution of a treatable disease
|
---|---|
Published in |
Pediatric Nephrology, August 2012
|
DOI | 10.1007/s00467-012-2242-5 |
Pubmed ID | |
Authors |
Galina Nesterova, William A. Gahl |
Abstract |
Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin. Since the introduction of kidney transplants and the availability of cystine-depleting medical therapy, this previously fatal disease was transformed into a treatable disorder. Renal allografts and medical therapy targeting the basic metabolic defect have altered the natural hisotry of cystinosis so drastically that patients have a life expectancy extending past 50 years. Consequently, early diagnosis and appropriate therapy are critically important. In this article, we offer a review of the manifestations of cystinosis, including the proximal tubular dysfunction of renal Fanconi syndrome, and discuss the prevention and treatment of the disorder's systemic complications. We focus on the nephropathic forms of cystinosis, aiming to assist nephrologists and other physicians to develop early recognition and appropriate management of cystinosis patients. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United Kingdom | 1 | 33% |
Unknown | 2 | 67% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 67% |
Science communicators (journalists, bloggers, editors) | 1 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United States | 2 | 2% |
Malaysia | 1 | <1% |
Unknown | 128 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 19 | 15% |
Student > Bachelor | 17 | 13% |
Student > Ph. D. Student | 16 | 12% |
Student > Master | 14 | 11% |
Other | 11 | 8% |
Other | 27 | 21% |
Unknown | 27 | 21% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 47 | 36% |
Biochemistry, Genetics and Molecular Biology | 17 | 13% |
Agricultural and Biological Sciences | 17 | 13% |
Pharmacology, Toxicology and Pharmaceutical Science | 8 | 6% |
Neuroscience | 2 | 2% |
Other | 10 | 8% |
Unknown | 30 | 23% |