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Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations
Mohammad Al-Haggar, Pediatrics Department, Genetics Unit, Mansoura University Children’s Hospital (MUCH), 35516 Mansoura, Egypt
Author contributions: Al-Haggar M solely contributed to this paper.
Correspondence to: Mohammad Al-Haggar, MD, Professor, Pediatrics Department, Genetics Unit, Mansoura University Children’s Hospital (MUCH), 60 El Gomhoureya St., 35516 Mansoura, Egypt. m.alhaggar@yahoo.co.uk
Telephone: +20-50-2310661 Fax: +20-50-2234092
Received: April 2, 2013
Revised: October 9, 2013
Accepted: October 17, 2013
Published online: November 6, 2013
Processing time: 215 Days and 19.2 Hours
Revised: October 9, 2013
Accepted: October 17, 2013
Published online: November 6, 2013
Processing time: 215 Days and 19.2 Hours
Core Tip
Core tip: Cystinosis is an autosomal recessive lysosomal storage disease of cystine manifested primarily in the eye and kidneys; corneal cystine deposition detected by slit lamp and a proximal renal tubular defect (Fanconi-like) are the main clinical features. Its responsible gene, called CTNS, encodes the lysosomal cystine carrier protein (cystinosin) and has been mapped on the short arm of chromosome 17. Clinical forms of cystinosis depend upon age of onset of main symptoms. Besides cystine chelation, treatment includes eye protection from sun exposure and renal support up to transplantation. Carrier detection among parents and prenatal genetic diagnosis is the mainstay of prevention.