Publications

1.Cystinosis: a truly orphan disease. Report of the Cystinosis Foundation India. 
Rare diseases and orphan drugs, Vol. 3, No.1 (2016)

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. Nineteen patients have been identified and registered with the foundation. Out of these, only 8 are receiving specific therapy with cysteamine. Four patients have undergone
successful kidney transplantation. Eight patients have died since registering with the foundation. Seventeen 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.
Key words
Cystinosis, renal failure, growth retardation, cysteamine, India

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2. Molecular Analysis of the CTNS Gene in Indians with Nephropathic Cystinosis 
The Indian Journal of Pediatrics. Nov 2016

To the Editor: Cystinosis is a rare autosomal disorder, caused due to the malfunctioning of CTNS (Cystinosin),a lysosomal protein responsible for the transport of cystine from the lysosome to the cytosol. Based on the clinical features, the disease can be classified into infantile, juvenile and ocular cystinosis. Functional analysis of mutations associated with these clinical forms suggests that a defective CTNS transporter leads to the accumulation of cystine and is one of the causes of the pathophysiology [1].

In India, there are now several reports of clinically confirmed cystinosis but these are rarely followed up to
identify the molecular basis. Thus, there appears to be a big gap between developing and developed nations in the diagnosis, awareness and treatment of cystinosis. We report here the identification of a mutation in three new Indian cystinosis patients. The age of the patients diagnosed is between 7 to 13 y, two were siblings. Parental consanguinity was noted in both families. Initial diagnosis for cystinosis was based on the presence of cystine crystals in the eyes of probands who were found to be photophobic. Other clinical symptoms associated with these patients were growth retardation, weight loss,Fanconi syndrome, renal failure and hypothyroidism (Table 1) …. For Further reading, click here

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