I completely agree with Dr Ravi R paper on difficulties we face in treating children with rare disorders like Cystinosis and aHUS where noone seems to help these children with drugs and treatment and we struggle for it. Appreciate Dr Ravi's foundation on Cystinosis.
CYSTINOSIS a truly orphan disease - Report of the Cystinosis Foundation India | Rajan | Rare Diseases and Orphan Drugs http://rarejournal.org/rarejournal/article/view/81
Showing posts with label cystinosis. Show all posts
Showing posts with label cystinosis. Show all posts
Friday, July 29, 2016
Cystinosis: Really an Orphan for Developing world
Friday, May 13, 2016
Controversies and Management of Cystinosis
Current Issue of Kidney International has an excellent paper on Cystinosis- from diagnosis to management, a must read for all pediatricians and pediatric nephrologists.
Nephropathic cystinosis is an autosomal recessive metabolic, lifelong disease characterized by lysosomal cystine accumulation throughout the body that commonly presents in infancy with a renal Fanconi syndrome and, if untreated, leads to end-stage kidney disease (ESKD) in the later childhood years.
Nephropathic cystinosis is an autosomal recessive metabolic, lifelong disease characterized by lysosomal cystine accumulation throughout the body that commonly presents in infancy with a renal Fanconi syndrome and, if untreated, leads to end-stage kidney disease (ESKD) in the later childhood years.
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