Health‐related quality of life and patient‐reported outcome measurements in patients with cystinosis
JIMD Reports, 2023 Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder. With the availability of treatment and renal replacement therapy, nephropathic cystinosis has evolved from an early fatal disease to a chronic, progressive disorder with ...
Stefanie Witt +3 more
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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 +2 more sources
Hypothesis: Taurine therapy of nephropathic cystinosis may correct the deficiencies of cysteamine therapy [PDF]
Molecular Genetics and Metabolism ReportsUntreated nephropathic cystinosis is a lethal autosomal recessive disease. The current specific therapy, cysteamine, ameliorates the renal function loss, but does not alter the renal Fanconi syndrome, short stature, muscle weakness, male infertility, and
Jess G. Thoene
doaj +2 more sources
Nephropathic Cystinosis: Pathogenic Roles of Inflammation and Potential for New Therapies [PDF]
Cells, 2022 The activation of several inflammatory pathways has recently been documented in patients and different cellular and animal models of nephropathic cystinosis.
Mohamed A. Elmonem +2 more
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Quality of life and mental health status in caregivers of pediatric patients with nephropathic cystinosis [PDF]
Orphanet Journal of Rare DiseasesThere are few studies assessing psychological burden and quality of life (QoL) in caregivers of pediatric patients with nephropathic cystinosis, a severe chronic disease.
Karina González +3 more
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Native kidney and graft survival in a cohort of Egyptian children with nephropathic cystinosis: national referral center experience [PDF]
Italian Journal of PediatricsBackground Nephropathic Cystinosis is a rare autosomal recessive lysosomal storage disorder. In addition to kidney dysfunction, this disorder can also affect other organs, such as the eyes, thyroid, muscles, and central nervous system.
Rasha Helmy +2 more
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Leptin signalling altered in infantile nephropathic cystinosis-related bone disorder. [PDF]
J Cachexia Sarcopenia MuscleAbstract 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. C57BL/6 Ctns−/− mice are an animal model for studying INC. Hyperleptinaemia results from the kidney's inability to eliminate the hormone leptin in CKD.
Cheung WW +5 more
europepmc +2 more sources
Targeting interleukin-1 for reversing fat browning and muscle wasting in infantile nephropathic cystinosis. [PDF]
J Cachexia Sarcopenia Muscle, 2021 Abstract Background Ctns−/− mice, a mouse model of infantile nephropathic cystinosis, exhibit hypermetabolism with adipose tissue browning and profound muscle wasting. Inflammatory cytokines such as interleukin (IL)‐1 trigger inflammatory cascades and may be an important cause for cachexia.
Cheung WW +7 more
europepmc +2 more sources
Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease
Frontiers in Pediatrics, 2018 Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body ...
Lutz T Weber, Weber Lutz T
exaly +3 more sources
In Vitro and In Vivo Models to Study Nephropathic Cystinosis [PDF]
Cells, 2021 The development over the past 50 years of a variety of cell lines and animal models has provided valuable tools to understand the pathophysiology of nephropathic cystinosis. Primary cultures from patient biopsies have been instrumental in determining the
Pang Yuk Cheung +3 more
doaj +2 more sources