Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12562
Abstract: Infantile nephropathic cystinosis (INC) is an inheritable lysosomal storage disorder characterized by lysosomal cystine accumulation, progressive kidney disease, and multiple extrarenal complications (ERCs). Cysteamine postpones the onset of end‐stage kidney disease (ESKD) and reduces the… read more here.
Keywords: infantile nephropathic; age; nephropathic cystinosis; cohort study ... See more keywords
Patients With Infantile Nephropathic Cystinosis in Germany and Austria: A Retrospective Cohort Study
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2022.864554
Abstract: Background Infantile nephropathic cystinosis (INC) is a rare lysosomal storage disorder resulting in progressive chronic kidney disease (CKD) and a variety of extrarenal manifestations. This orphan disease remains a challenge for patients, their families and… read more here.
Keywords: infantile nephropathic; cystine; age; range ... See more keywords