CYSTINOSIS a truly orphan disease - Report of the Cystinosis Foundation India
Abstract
Cystinosis is a rare disease leading to accumulation of cystine in lysosomes causing apoptotic cell death leading to organ dysfunction. Although the disease was identified 100 years ago, the history of Cystinosis in India is really pathetic. Only in 2012, the Cystinosis Foundation India was formed with the initiative to pool up these unfortunate patients. 19 patients have been indentified and registered with the foundation. Out of these, only 8 are receiving specific therapy with Cysteamine. 4 have undergone successful kidney transplantation. 8 patients have died since registering with the foundation. 17 patients were picked up with advanced growth retardation and renal failure. Only 2 children were picked up in early stage. This article describes the difficulties faced in the identification and management of these patients in India.
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