A severe course of serogroup W meningococcemia in a patient with infantile nephropathic cystinosis [PDF]
Human Vaccines & Immunotherapeutics, 2020 We present a 9-month old boy with cystinosis admitted to our hospital with the complaints of vomiting, diarrhea and seizure. While he was hospitalized in a pediatric intensive care unit due to worsening of his signs related to cystinosis, within hours ...
Gurkan Bozan +7 more
doaj +5 more sources
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 +4 more sources
Muscle wasting and adipose tissue browning in infantile nephropathic cystinosis [PDF]
Journal of Cachexia, Sarcopenia and Muscle, 2016 Muscle wasting is a common complication in patients with infantile nephropathic cystinosis, but its mechanism and association with energy metabolism is not known. We define the metabolic phenotype in Ctns−/− mice, an established murine model of infantile
Wei Ding, Ping Zhou, Richard L Lieber
exaly +5 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 +4 more sources
Neuromuscular conditions and the impact of cystine‐depleting therapy in infantile nephropathic cystinosis: A cross‐sectional analysis of 55 patients [PDF]
Journal of Inherited Metabolic Disease, Volume 45, Issue 2, Page 183-191, March 2022., 2021 Infantile nephropathic cystinosis (INC) is a rare lysosomal storage disease caused by biallelic mutations in the cystinosin gene, leading to cystine accumulation in various organs.
Katharina Vill +9 more
semanticscholar +3 more sources
Testicular function in males with infantile nephropathic cystinosis. [PDF]
Hum Reprod, 2021 STUDY QUESTION Do males with the rare lysosomal storage disease infantile nephropathic cystinosis (INC) have a chance of biological fatherhood? SUMMARY ANSWER Cryostorage of semen could be an option for approximately 20% of young males with INC, with ...
Rohayem J +7 more
europepmc +4 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 +4 more sources
Infantile Nephropathic Cystinosis: A Novel CTNS Mutation. [PDF]
Eurasian J Med, 2017 Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene.
Doneray H +4 more
europepmc +4 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 +4 more sources
Saudi Journal of Kidney Diseases and Transplantation, 2016 Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the accumulation of the amino-acid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe form of the disorder.
Vaishali More, Preeti Shanbag
doaj +3 more sources