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

• Auteurs principaux: Smita Mary Matthai (Auteur), Shibu Jacob (Auteur), Mandeep S Bindra (Auteur), Vinoi George David (Auteur), Santosh Varughese (Auteur)
• Format: Livre
• Publié: Wolters Kluwer Medknow Publications, 2019-01-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

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...