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 +9 more sources
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 +6 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 in Sulaimani Pediatric Teaching Hospital: A Retrospective Cohort Study [PDF]
Kurdistan Journal of Applied Research, 2018 Cystinosis is a rare metabolic autosomal recessive disorder which characterized by intralysosomal accumulation of cystine. There are three forms; infantile nephropathic is the commonest forms.
Hunar Jamal Hussein +2 more
doaj +5 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., 2022 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.
Harms, Erik +9 more
core +3 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 +5 more sources
Hirschsprung's disease with infantile nephropathic cystinosis.
J Indian Assoc Pediatr Surg, 2015 The case of a 3-year-old boy diagnosed to have Hirschsprung′s disease with infantile nephropathic cystinosis is being reported. Both these conditions are etiologically and genetically different as per current understanding and available information.
Mittal D +4 more
europepmc +4 more sources
Diagnostics and treatment of ocular complications in infantile nephropathic cystinosis [PDF]
Ophthalmology Journal, 2021 Cystinosis, as a rare disease, faces many difficulties with regard to appropriate early diagnostics and treatment. The aim of our study is to present current methods of diagnostics and treatment of ocular complications in an infantile nephropathic type ...
Kowalczyk, Małgorzata +3 more
core +4 more sources
Local Guidance on the Management of Nephropathic Cystinosis in the Gulf Cooperation Council (GCC) Region [PDF]
ChildrenCystinosis is a rare systemic disease characterized by the accumulation of cystine in tissues, leading to multi-organ damage. Infantile nephropathic cystinosis is the dominant and severe form of cystinosis with critical renal manifestations that require ...
Hassan Aleid +9 more
doaj +3 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 +4 more sources