Results 11 to 20 of about 9,272 (239)

Cystinosis and two rare mutations in CTNS gene: two case reports

Journal of Medical Case Reports, 2022
Background Cystinosis is an autosomal recessive disorder characterized by an accumulation of the amino acid cystine in lysosomes throughout the body. Cystinosis is an inherited disease resulting from the failure of lysosomal cystine transport.
Sepideh Gholami Yarahmadi, Fatemeh Sarlaki, Saeid Morovvati   +2 more
doaj   +2 more sources

Untangling Traffic Jams: RAB11FIP4 Orchestrates Cellular Recovery in Cystinosis [PDF]

Autophagy Reports
RAB11FIP4 (RAB11 family interacting protein 4), a RAB11A (Ras-related protein Rab-11) effector protein downregulated in cystinosis, plays a crucial role in cellular trafficking.
Mouad Ait Kbaich, Jennifer L. Johnson, Sergio D. Catz   +2 more
doaj   +2 more sources

Addressing the psychosocial aspects of transition to adult care in patients with cystinosis. [PDF]

Pediatr Nephrol
Cystinosis is a rare autosomal-recessive lysosomal storage disease that progressively affects multiple organs beginning with the kidneys. Patients require lifelong multidisciplinary care for the management of kidney disease and progressive extra-renal ...
Stabouli S, Sommer A, Kraft S, Schweer K, Bethe D, Bertholet-Thomas A, Batte S, Ariceta G, Brengmann S, Bacchetta J, Emma F, Levtchenko E, Topaloglu R, Willem L, Haffner D, Oh J.   +15 more
europepmc   +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

Newborn Screening: Review of its Impact for Cystinosis

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   +2 more sources

Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations)

Orphanet Journal of Rare Diseases, 2021
Background Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain.
Ana A. Francisco, Alaina S. Berruti, Frederick J. Kaskel, John J. Foxe, Sophie Molholm   +4 more
doaj   +2 more sources

A New and Rapid LC-MS/MS Method for the Determination of Cysteamine Plasma Levels in Cystinosis Patients. [PDF]

Pharmaceuticals (Basel)
Cystinosis is a rare lysosomal storage disorder caused by autosomal recessive mutations in the CTNS gene that encodes for the cystine transporter cystinosin, which is expressed on the lysosomal membrane mediating the efflux of cystine.
Simeoli R, Cairoli S, Greco M, Bellomo F, Mancini A, Rossi C, Dionisi Vici C, Emma F, Goffredo BM.   +8 more
europepmc   +2 more sources

Gastrointestinal challenges in nephropathic cystinosis: clinical perspectives. [PDF]

Pediatr Nephrol
Gastrointestinal (GI) sequelae, such as vomiting, hyperacidity, dysphagia, dysmotility, and diarrhea, are nearly universal among patients with nephropathic cystinosis.
Joseph MW, Stein DR, Stein AC.
europepmc   +2 more sources

Nlrp2 deletion ameliorates kidney damage in a mouse model of cystinosis. [PDF]

Front Immunol
Cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene that encodes cystinosin, a ubiquitous lysosomal cystine/H+ antiporter.
Rossi MN, Matteo V, Diomedi-Camassei F, De Leo E, Devuyst O, Lamkanfi M, Caiello I, Loricchio E, Bellomo F, Taranta A, Emma F, De Benedetti F, Prencipe G.   +12 more
europepmc   +2 more sources

Liver Transplant From a Deceased Donor With Cystinosis: A Case Report. [PDF]

JIMD Rep
ABSTRACT Many inherited metabolic disorders (IMD) are associated with end‐organ damage necessitating organ transplantation. Although utilization of deceased donors with history of IMD warrants caution, there may be circumstances under which such donors could be considered as suitable organ donor candidates.
Taj R, Ng K, Cuddapah SR, Rand EB, Bleicher M, Amaral S, Hoteit MA, Reddy RK, Feyssa E, Furth EE, Olthoff KM, Abu-Gazala S, Levine MH, Vyas F, Abt PL.   +14 more
europepmc   +2 more sources