Natural history of adolescent-onset cystinosis
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Julian P. Midgley & Reyhan El-Kares & François Mathieu & Paul Goodyer
- چاپ و سال / کشور: 2011
Description
Cystinosis is a rare autosomal recessive disease caused by mutations of the CTNS gene in which cystine accumulates throughout the body as a result of a defective efflux of cystine from lysosomes. Three phenotypic forms have been described according to the age of onset and the severity of the clinical symptoms: infantile, intermediate, and ocular non-nephropathic cystinosis. Here we report the natural history of cystinosis in a 55-year-old man with intermediate nephropathic cystinosis diagnosed at 9 years of age. Although tubulopathy was unnoticed in the early years, he required transplantation at age 16. Sequencing analysis of all the CTNS exons revealed that the proband is homozygous for a 21-bp inframe deletion in exon 5 (c. 198_218del21), resulting in an inframe deletion of 7 amino acids from the N-terminal domain of the cystinosin protein. Our patient has had relatively mild extra-renal disease despite lack of early cysteamine therapy. He has been able to attend university and pursue a professional career into the 6th decade.
Pediatr Nephrol (2011) 26:1335–1337 DOI 10.1007/s00467-011-1904-z Received: 17 January 2011 / Revised: 4 April 2011 / Accepted: 5 April 2011 / Published online: 8 May 2011
