Results 11 to 20 of about 7,764 (252)

An Isogenic Human Myoblast Cell Model for Cystinosis Myopathy Reveals Alteration of Key Myogenic Regulatory Proteins. [PDF]

J Cachexia Sarcopenia Muscle
ABSTRACT Background Cystinosis is a rare multisystem, autosomal recessive disease caused by dysfunction or loss of cystinosin (CTNS), which results in lysosomal cystine accumulation, primarily affecting the kidneys. Advances in renal transplantation, cysteamine treatment and improved medical care have increased life expectancy, revealing additional ...
Medaer L, Mora R, Zhou Z, Giarratana N, Yedigaryan L, La Rovere R, Levtchenko E, Mouly V, Verhoeyen E, Eeltink S, Treumann A, Vervliet T, Sampaolesi M, Gijsbers R.   +13 more
europepmc   +4 more sources

Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum

Ophthalmology and Therapy, 2018
Cystinosis, a rare autosomal recessive disease caused by intracellular cystine accumulation, occurs in an estimated 1/100,000–200,000 live births. Ocular non-nephropathic cystinosis is typically diagnosed during adulthood, when patients present with ...
João Pedro Marques, Hong Liang
exaly   +3 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

Intermediate cystinosis: a case report of 10-year treatment with cysteamine [PDF]

BMC Nephrology
Background Cystinosis is a lysosomal storage disorder characterized by an autosomal recessive phenotype. Intermediate cystinosis, which progresses slowly and causes renal failure, accounts for approximately 5% of all cystinosis cases.
Mariko Kawamura, Daisuke Katagiri, Yuuka Yamamoto, Keiki Shimada, Satomi Higashi, Masako Otani, Noriko Uesugi, Hideki Takano, Yukiko Shimizu, Tadashi Okamura   +9 more
doaj   +2 more sources

Patient journey in cystinosis: focus on non-adherence and disease management [PDF]

Drugs in Context
Background: Few studies have assessed patient-reported experience measures in nephropathic cystinosis. This study uses patient reports focused on the impact of cystinosis, cysteamine treatment-associated problems, and therapeutic adherence and suggests ...
Gema Ariceta, Simón Lalanza, Catalina Peña, Marta Martínez Montero, Carlos Bezos Daleske, Laura Acuña Álvarez, Elisa Giner   +6 more
doaj   +2 more sources

Novel mechanism for tubular injury in nephropathic cystinosis [PDF]

eLife
Understanding the unique susceptibility of the human kidney to pH dysfunction and injury in cystinosis is paramount to developing new therapies to preserve renal function.
Swastika Sur, Maggie Kerwin, Silvia Pineda, Poonam Sansanwal, Tara K Sigdel, Marina Sirota, Minnie M Sarwal   +6 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

Quality of life and mental health status in caregivers of pediatric patients with nephropathic cystinosis [PDF]

Orphanet Journal of Rare Diseases
There 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, Teresa Eixarch, Laura Nuñez, Gema Ariceta   +3 more
doaj   +2 more sources

Cystinosis

Klinische Monatsblätter für Augenheilkunde, 2023
AbstractCystinosis is a very rare autosomal recessive lysosomal storage disorder with an incidence of 1 : 150,000 – 1 : 200,000, and is caused by mutations in the CTNS gene encoding the lysosomal membrane protein cystinosin, which transports cystine out of the lysosome into the cytoplasm.
Katharina, Hohenfellner, Kirstin, Zerell, Dieter, Haffner   +2 more
openaire   +4 more sources

Nephropathic Cystinosis: Pathogenic Roles of Inflammation and Potential for New Therapies

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   +1 more source