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Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease [PDF]

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 ...
Sören Bäumner, Lutz T. Weber
exaly   +4 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, Patrick T. Harrison, Alan J. Davidson, Jennifer A. Hollywood   +3 more
doaj   +4 more sources

Long-term clinical benefits of delayed-release cysteamine bitartrate capsules in patients with nephropathic cystinosis (response to “A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis”) [PDF]

Orphanet Journal of Rare Diseases, 2023
The aim of this letter to the editor is to summarize the results from three clinical trial programs evaluating delayed-release cysteamine bitartrate (DR-CYS), which demonstrated the long-term clinical benefits in patients with nephropathic cystinosis ...
Craig B. Langman
doaj   +4 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, Koenraad R. P. Veys, Giusi Prencipe   +2 more
doaj   +4 more sources

Targeting interleukin‐1 for reversing fat browning and muscle wasting in infantile nephropathic cystinosis [PDF]

Journal of Cachexia, Sarcopenia and 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.
Hal M Hoffman, Robert H Mak
exaly   +3 more sources

Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation [PDF]

Clinical Case Reports, 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.
Kozina A. Anastasiya, Okuneva G. Elena, Baryshnikova V. Natalia, Krasnenko Yu. Anna, Tsukanov Yu. Kirill, Klimchuk I. Olesya, Nikishina A. Tatiana, Fedoniuk D. Inessa, Surkova I. Ekaterina, Shatalov A. Peter, Ilinsky V. Valery   +10 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, Ewa Elenberg, Gema Ariceta, Galina Nesterova, Neveen A. Soliman, Rezan Topaloglu   +5 more
doaj   +3 more sources

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, Kaja Kristensen, Katharina Hohenfellner, Julia Quitmann   +3 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, Mario Damiano Toro, Robert Rejdak, Wojciech Załuska, Caterina Gagliano, Przemyslaw Sikora   +5 more
doaj   +3 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   +2 more sources