Background Nearly 50% of the world population and 60% of children aged 0 to 14 years live
in low-or lower-middle–income countries. Paediatric nephrology (PN) in these countries is …

While nephropathic cystinosis is classically thought of as a childhood disease, with
improved treatments, patients are more commonly living into adulthood. We performed a …

Background Nephropathic cystinosis (NC) is a rare lysosomal disease, leading to early
kidney failure and extra-renal comorbidities. Its prognosis strongly relies on early diagnosis …

Cystinosis is an autosomally inherited rare genetic disorder in which cystine accumulates in
the lysosome. The defect arises from a mutation in the lysosomal efflux pump, cystinosin (or …

Newborn screening (NBS) programmes are considered to be one of the most successful
secondary prevention measures in childhood to prevent or reduce morbidity and/or mortality …

The objective of the investigation was to determine the ocular biodistribution of cysteamine,
a reducing agent used for treatment of cystine crystals in cystinosis, following topical …

Background Infantile nephropathic cystinosis (INC) is a rare lysosomal storage disorder
resulting in progressive chronic kidney disease (CKD) and a variety of extrarenal …

Background Nephropathic cystinosis is an autosomal recessive disease caused by a
mutation in the CTNS gene which encodes cystinosin, a lysosomal cystine transporter. The …

Background Cystinosis is a lysosomal storage disease that affects many tissues. Its
prognosis depends predominantly on kidney involvement. Cystinosis has three clinical …

Background: There is a lack of regional and local evidence that describes the nature of
cystinosis, a multiorgan accumulation of cystine, and its extent of organ damage. Therefore …