Nephropathic cystinosis presenting with uveitis: Report of a “Can't See, Can't Pee” situation

Nephropathic cystinosis presenting with uveitis: Report of a “Can't See, Can't Pee” situation

Nephropathic cystinosis is a rare autosomal recessive lysosomal disease characterized by accumulation of pathognomonic cystine crystals in renal and other tissues of the body. Cystinosis is caused by mutant cystinosin, the cystine transport protein located in lysosomal membranes, leading to systemic...

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Bibliographic Details
Main Authors: Smita Mary Matthai, Shibu Jacob, Mandeep S Bindra, Vinoi George David, Santosh Varughese
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2019-01-01
Series:Indian Journal of Pathology and Microbiology
Subjects:
CTNS gene
cysteamine
cystinosis
lysosomal diseases
nephropathic cystinosis
Online Access:http://www.ijpmonline.org/article.asp?issn=0377-4929;year=2019;volume=62;issue=3;spage=457;epage=460;aulast=Matthai

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