CYSTINOSIS a truly orphan disease - Report of the Cystinosis Foundation India

Ravichandran Rajan


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.


Cystinosis; Renal Failure; Growth retardation; Cysteamine; India

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Anikster Y, Shotelersuk V, Gahl W A. “CTNS mutations in patients with cystinosis”, Hum Mutat. Vol.14, pp. 454-458, 1999.

Nesterova G, Gahl WA. “Cystinosis”. 2001 Mar 22 [Updated 2014 Jan 30]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from:

Thoene J G, Oshima R G, and Crawhall J C, “Intracellular cystine depletion by aminothiols in vitro and in vivo”, The Journal of Clinical Investigation, vol.58, no.1,pp. 180-189, 1976.

Gahl W A, Charnas L, Markello T C, Bernardini I, Ishak K G, and M.C. Dalakas M C, “Parenchymal organ cystine depletion with long-term cysteamine therapy”, Biochemical Medicine and Metabolic Biology, vol. 48, no.3, pp. 275-285, 1992.

Phadke K D,Kumar P A, Karthik S, Bagirath A. “Infantile nephropathic cystinosis”, Indian J Nephrol,Vol. 14. Pp. 18-21, 2004.

Krishnan Swaminathan and Murugan Jeyaraman, “cystinosisi: An eye opener”, Apollo Medicine, vol. 11(1), pp. 43-45, March 2014.

Sharma A, Gupta R, Senthil SK, Bagga A, Dinda AK. “Giant cell transformation of podocytes: A unique histological feature associated with cystinosis. Indian J Nephrol, vol.21, pp. 123-125, 2011.

Kumar A and Bachhawat A K, “A futile cycle, formed between two ATP-dependant y-glutamyl cycle enzymes, y-glutamyl cysteine synthetase and 5-oxoprolinase: the cause of cellular ATP depletion in nephritic cystinosis?”, J. Biosci, 35(1), pp. 21-25, March 2010.

Sha Tang, Sumita Danda, Mehrdad Zolcikhacian, Mariella Simon, Taosheng Huang. “ An Indian Boy with Nephropathic Cystinosis: A Case Report and Molecular Analysis of CTNS Mutation”. Genetic testing and Molecular Biomarkers. 13(4): 435-438, 2009.