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The assessment and treatment of the musculoskeletal manifestations of cystinosis [PDF]

Frontiers in Nephrology
Cystinosis is a rare autosomal recessive lysosomal storage disease caused by a defective lysosomal cystine carrier protein, cystinosin, resulting in formation and deposition of cystine crystals throughout the body. The renal manifestations of the disease
Priya Singh, D’Arcy Marsh, Melinda Sharkey   +2 more
doaj   +4 more sources

Hypothesis: Taurine therapy of nephropathic cystinosis may correct the deficiencies of cysteamine therapy [PDF]

Molecular Genetics and Metabolism Reports
Untreated 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   +3 more sources

Bridging pediatric to adult care in cystinosis: a scoping review of healthcare transition of care protocols and a roadmap for future practice [PDF]

BMC Nephrology
Cystinosis is a rare lysosomal storage disorder that affects approximately 1 in 100,000 to 200,000 live births worldwide. Long-term graft success in cystinosis depends on cysteamine adherence and structured multidisciplinary transition, supported by ...
Sanat Subhash, Nicholas Pantelakis, Kyle Backston, Ruhaan Bajpai, Amir Safadi, Brandon Petrovich, Bradley A. Warady, Maria Diaz-Gonzalez de Ferris, Rupesh Raina   +8 more
doaj   +2 more sources

A behavioral and electrophysiological investigation of conflict monitoring in cystinosis (CTNS gene mutations) using the flanker paradigm [PDF]

Frontiers in Nephrology
Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain. Its impact on neural function appears mild relative to its effects on other organs, but
Sophie Molholm, Sophie Molholm, Sophie Molholm, Ana A. Francisco, Douwe J. Horsthuis, Tringa Lecaj, Dennis Cregin, Chloe Brittenham, John J. Foxe, John J. Foxe, John J. Foxe   +10 more
doaj   +2 more sources

Cystinosis symposium: a rare disease model for comprehensive care [PDF]

Frontiers in Pediatrics
The time to provide a forum for collaboration in cystinosis research underscored the recent Cystinosis Symposium: A Rare Disease Model for Comprehensive Care held at the New York Academy of Medicine, on 31 May 2024, an event sponsored by the Cystinosis ...
Ashley M. Gefen, Frederick J. Kaskel, Frederick J. Kaskel, Joshua J. Zaritsky   +3 more
doaj   +2 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   +2 more sources

Grip Strength in Adults and Children with Cystinosis

Kidney International Reports, 2021
Introduction: Chronic kidney disease (CKD) is associated with impaired muscle strength. Patients with cystinosis have an increased risk for impaired muscle strength because of early development of CKD and cystinosis-induced myopathy.
Chia-Shi Wang, Larry A Greenbaum, Julien Hogan   +2 more
exaly   +3 more sources

Transition from pediatric to adult nephropathic cystinosis care: the structure, challenges and lessons learned [PDF]

Frontiers in Pediatrics
Cystinosis is a rare, autosomal recessive disorder that results in a build up of the amino acid cystine in the body ( 1). With early diagnosis and advances in patient prognosis over the years, this has led to an increasing number of adolescents and ...
Brianna Borsheim, Andrew Vissing, Andrew Vissing, Cybele Ghossein, Cybele Ghossein   +4 more
doaj   +2 more sources

Local Guidance on the Management of Nephropathic Cystinosis in the Gulf Cooperation Council (GCC) Region [PDF]

Children
Cystinosis 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, Turki AlShareef, Ahmad Kaddourah, Maryam Zeinelabdin, Mohamad M. Alkadi, Badria Al Ghaithi, Yasser Abdelkawy, Eihab Al Khasawneh, Elena Levtchenko, Khalid Alhasan   +9 more
doaj   +2 more sources

Diagnosis and management of cystinosis: systematic review for a clinical practice guideline [PDF]

Orphanet Journal of Rare Diseases
Background Cystinosis is a rare genetic disorder, with the majority of patients suffering from infantile nephropathic cystinosis, the most severe form. If left untreated, cystinosis causes serious morbidity, initially through progressive kidney and eye ...
Dominic Ledinger, Barbara Nussbaumer-Streit, Brigitte Piso, Andreea Dobrescu, Arianna Gadinger, Irma Klerings, Katharina Hohenfellner, Isolde Sommer   +7 more
doaj   +2 more sources