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 nephropathic cystinosis, with focus on muscle wasting and energy homeostasis.Male Ctns(-/-) mice ...
Wai W Cheung +2 more
exaly +9 more sources
A Leptin Receptor Antagonist Attenuates Adipose Tissue Browning and Muscle Wasting in Infantile Nephropathic Cystinosis-Associated Cachexia [PDF]
Cells, 2021 Mice lacking the functional cystinosin gene (Ctns−/−), a model of infantile nephropathic cystinosis (INC), exhibit the cachexia phenotype with adipose tissue browning and muscle wasting.
Alex Gonzalez +2 more
exaly +6 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
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 +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. The association is incidental and has not reported before in the English literature.
Mittal D +4 more
europepmc +4 more sources
Metabolic Advantage of 25(OH)D3 versus 1,25(OH)2D3 Supplementation in Infantile Nephropathic Cystinosis-Associated Adipose Tissue Browning and Muscle Wasting [PDF]
Cells, 2022 Manifestations of infantile nephropathic cystinosis (INC) often include cachexia and deficiency of circulating vitamin D metabolites. We examined the impact of 25(OH)D3 versus 1,25(OH)2D3 repletion in Ctns null mice, a mouse model of INC.
Ping Zhou +5 more
doaj +4 more sources
Multimodal imaging of infantile nephropathic cystinosis
Indian Journal of Ophthalmology. Case Reports, 2021 Cystinosis is a lysosomal storage disorder characterized by cystine crystal accumulation in different parts of body including the eyes. The purpose of this article was to describe different ophthalmological abnormalities in cystinosis using multimodal ...
Krishna K Roy +3 more
doaj +3 more sources
CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report [PDF]
BMC Nephrology, 2019 Background Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein ...
Svetlana Papizh +7 more
doaj +4 more sources
Ophthalmic Manifestations and Histopathology of Infantile Nephropathic Cystinosis: Report of a Case and Review of the Literature [PDF]
Survey of Ophthalmology, 2007 Cystinosis is a rare autosomal recessive metabolic disorder characterized by the intracellular accumulation of cystine, the disulfide of the amino acid cysteine, in many organs and tissues. Infantile nephropathic cystinosis is the most severe phenotype.
Pamela C Sieving, Chi-Chao Chan
exaly +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]
Pediatric Nephrology, 2023 Anja Büscher +2 more
exaly +4 more sources