Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants. [PDF]
Pediatr Nephrol, 2023 Infantile nephropathic cystinosis (INC) is a systemic lysosomal storage disease causing intracellular cystine accumulation, resulting in renal Fanconi syndrome, progressive kidney disease (CKD), rickets, malnutrition, and myopathy.
Müller S +18 more
europepmc +2 more sources
Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis. [PDF]
Br J Ophthalmol, 2023 Précis Cystinosis is a lysosomal storage disease leading to an accumulation of cystine crystals in several organs. We aim to comprehensively describe chorioretinal cystine crystals via spectral domain optical coherence tomography (SD-OCT) and elaborate a
Keidel L +5 more
europepmc +2 more sources
Newborn Screening: Review of its Impact for Cystinosis [PDF]
Cells, 2022 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 via early disease identification and subsequent initiation of therapy.
Katharina Hohenfellner +5 more
doaj +3 more sources
Ophthalmic Evaluation of Diagnosed Cases of Eye Cystinosis: A Tertiary Care Center’s Experience [PDF]
Diagnostics, 2020 Background: We aimed to identify diagnosed cases of ocular cystinosis and describe clinical, epidemiological and therapeutic characteristics. Methods: This is a descriptive and retrospective case series. All patients underwent a full check-up examination
Malgorzata Kowalczyk +5 more
doaj +3 more sources
Infantile nephropathic cystinosis [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2011 Introduction. Infantile nephropathic cystinosis (INC) is a metabolic disorder due to impaired carrier-mediated transport of cystine out of cellular lysosomes. Objective.
Peco-Antić Amira +6 more
doaj +3 more sources
A new proof of evidence of cysteamine quantification for therapeutic drug monitoring in patients with cystinosis [PDF]
Orphanet Journal of Rare Diseases, 2022 Background To date, measurement of intracellular cystine is used for the therapeutic monitoring of patients affected by cystinosis in treatment with cysteamine.
Martina Franzin +6 more
doaj +3 more sources
Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations. [PDF]
Hum Genome Var, 2017 Nephropathic cystinosis is an inherited lysosomal transport disorder caused by mutations in the CTNS gene that encodes for a lysosomal membrane transporter, cystinosin.
Sadeghipour F +3 more
europepmc +2 more sources
Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation
Clinical Case Reports, 2018 Key Clinical Message We report a Russian patient with atypical onset of infantile nephropathic cystinosis. The disease debuted with vomiting and loss of weight and motor skills. Nephropathic changes appeared 6 months after onset of disease.
Kozina A. Anastasiya +10 more
doaj +2 more sources
Nephropathic cystinosis: an international consensus document [PDF]
Nephrology Dialysis Transplantation, 2014 Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of inherited renal Fanconi syndrome in young children.
Stephanie Cherqui +2 more
exaly +4 more sources
Journal of Inherited Metabolic Disease, 2022 Infantile nephropathic cystinosis (INC) is an inheritable lysosomal storage disorder characterized by lysosomal cystine accumulation, progressive kidney disease, and multiple extrarenal complications (ERCs).
Koenraad R P Veys +19 more
semanticscholar +9 more sources