Leptin signalling altered in infantile nephropathic cystinosis‐related bone disorder [PDF]
Journal of Cachexia, Sarcopenia and MuscleBackground The CTNS gene mutation causes infantile nephropathic cystinosis (INC). Patients with INC develop Fanconi syndrome and chronic kidney disease (CKD) with significant bone deformations.
Wai W. Cheung +5 more
exaly +6 more sources
Muscle and Bone Impairment in Infantile Nephropathic Cystinosis: New Concepts [PDF]
Cells, 2022 Cystinosis Metabolic Bone Disease (CMBD) has emerged during the last decade as a well-recognized, long-term complication in patients suffering from infantile nephropathic cystinosis (INC), resulting in significant morbidity and impaired quality of life ...
Justine Bacchetta +2 more
exaly +8 more sources
Targeting interleukin‐1 for reversing fat browning and muscle wasting in infantile nephropathic cystinosis [PDF]
Journal of Cachexia, Sarcopenia and Muscle, 2021 Background Ctns−/− mice, a mouse model of infantile nephropathic cystinosis, exhibit hypermetabolism with adipose tissue browning and profound muscle wasting.
Hal Hoffman, Robert Mak
exaly +4 more sources
Neuroretinal structure changes in infantile nephropathic cystinosis [PDF]
Orphanet Journal of Rare DiseasesBackground The aim of this study was to investigate the neuroretinal structure of patients with the lysosomal storage disease cystinosis. Methods In this retrospective cross-sectional analysis, optical coherence tomography (OCT) was used to measure the ...
+2 more
exaly +5 more sources
Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation [PDF]
Clinical Case Reports (discontinued), 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.
Ekaterina Surkova
exaly +5 more sources
Vitamin D repletion ameliorates adipose tissue browning and muscle wasting in infantile nephropathic cystinosis‐associated cachexia [PDF]
Journal of Cachexia, Sarcopenia and Muscle, 2020 Background Ctns−/− mice, a mouse model of infantile nephropathic cystinosis, exhibit hypermetabolism with adipose tissue browning and profound muscle wasting. Ctns−/− mice are 25(OH)D3 and 1,25(OH)2D3 insufficient.
Hal Hoffman, Shiping Li, Ping Zhou
exaly +4 more sources
Testicular function in males with infantile nephropathic cystinosis [PDF]
Human Reproduction, 2021 AbstractSTUDY QUESTIONDo males with the rare lysosomal storage disease infantile nephropathic cystinosis (INC) have a chance of biological fatherhood?SUMMARY ANSWERCryostorage of semen could be an option for approximately 20% of young males with INC, with surgical sperm retrieval from the centre of the testes providing additional opportunities for ...
Sabine Kliesch +2 more
exaly +4 more sources
Infantile Nephropathic Cystinosis: A Novel CTNS Mutation [PDF]
Eurasian Journal of Medicine, 2019 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.
Hakan Doneray +4 more
doaj +5 more sources
Ocular Involvement in Patients with Infantile Nephropathic Cystinosis [PDF]
Türk Oftalmoloji DergisiCystinosis is a rare autosomal recessive lysosomal storage disease associated with high mortality and morbidity rates. The most distinctive ocular manifestations of cystinosis are photophobia, tearing, and blurred vision.
Sema Üzüm +4 more
doaj +4 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.
Arieh Gertler +2 more
exaly +4 more sources