Results 1 to 10 of about 575 (134)

Leptin signalling altered in infantile nephropathic cystinosis‐related bone disorder [PDF]

Journal of Cachexia, Sarcopenia and Muscle
Background 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, Ronghao Zheng, Arieh Gertler   +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.
Wai W Cheung, Sheng Hao, Ronghao Zheng
exaly   +8 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 ...
Dieter Haffner, Maren Leifheit-Nestler, Justine Bacchetta   +2 more
exaly   +9 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.
Wai W Cheung, Wei Ding, Ronghao Zheng
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 I Surkova
exaly   +6 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, Mohammed Aldahmesh, Gulsah Yilmaz, Emine Cinici, Zerrin Orbak   +4 more
doaj   +7 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 ...
Julia Rohayem, Dieter Haffner, Joachim Wistuba   +2 more
exaly   +5 more sources

Patients With Infantile Nephropathic Cystinosis in Germany and Austria: A Retrospective Cohort Study [PDF]

Frontiers in Medicine, 2022
BackgroundInfantile nephropathic cystinosis (INC) is a rare lysosomal storage disorder resulting in progressive chronic kidney disease (CKD) and a variety of extrarenal manifestations.
Nina O'Connell, Jun Oh, Klaus Arbeiter, Anja Büscher, Dieter Haffner, Jessica Kaufeld, Christine Kurschat, Christoph Mache, Dominik Müller, Ludwig Patzer, Lutz T. Weber, Burkhard Tönshoff, Marcus Weitz, Katharina Hohenfellner, Lars Pape, Lars Pape   +15 more
doaj   +8 more sources

Ocular Involvement in Patients with Infantile Nephropathic Cystinosis [PDF]

Türk Oftalmoloji Dergisi
Cystinosis 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, Ayşe Bozkurt Oflaz, Sadagat Guluzade, Emine Tınkır Kayıtmazbatır, Banu Bozkurt   +4 more
doaj   +6 more sources

Neuroretinal structure changes in infantile nephropathic cystinosis [PDF]

Orphanet Journal of Rare Diseases
Background 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 ...
Leonie Franziska Keidel, Neringa Jurkute, Benedikt Schworm, Katharina Hohenfellner, Siegfried Priglinger, Axel Petzold, Claudia Priglinger   +6 more
doaj   +6 more sources