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
doaj +2 more sources
Newborn Screening: Review of its Impact for Cystinosis [PDF]
Cells, 2022 Newborn screening (NBS) programmes are considered to be one of the most successful secondary prevention measures in childhood to prevent or reduce morbidity and/or mortality via early disease identification and subsequent initiation of therapy.
Katharina Hohenfellner +5 more
doaj +3 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 +3 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 +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
doaj +2 more sources
Biomarkers in Nephropathic Cystinosis: Current and Future Perspectives. [PDF]
Cells, 2022 Early diagnosis and effective therapy are essential for improving the overall prognosis and quality of life of patients with nephropathic cystinosis. The severity of kidney dysfunction and the multi-organ involvement as a consequence of the increased ...
Emma F +9 more
europepmc +3 more sources
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
doaj +2 more sources
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
doaj +2 more sources
Ophthalmic Evaluation of Diagnosed Cases of Eye Cystinosis: A Tertiary Care Center’s Experience [PDF]
Diagnostics, 2020 Background: We aimed to identify diagnosed cases of ocular cystinosis and describe clinical, epidemiological and therapeutic characteristics. Methods: This is a descriptive and retrospective case series. All patients underwent a full check-up examination
Malgorzata Kowalczyk +5 more
doaj +3 more sources