Results 11 to 20 of about 3,487 (162)

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 Greenbaum, Loretta Reyes   +2 more
exaly   +3 more sources

Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis

Nefrologia, 2015
Introduction: Cystinosis is a rare systemic lysosomal storage disease that mainly affects the kidney and the eye. Renal replacement therapy is started in patients with cystinosis during the first decade of life in the absence of treatment.
Josep Gámez Carbonell, Federico Oppenheimer   +1 more
exaly   +3 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

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

Ophthalmic Evaluation of Diagnosed Cases of Eye Cystinosis: A Tertiary Care Center’s Experience

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
Wojciech Załuska, Mario Damiano Toro, Caterina Gagliano   +2 more
exaly   +3 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

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   +2 more sources

A Personal History of Cystinosis by Dr. Jerry Schneider

Cells, 2022
Cystinosis is a rare lysosomal storage disease that is tightly linked with the name of the American physician and scientist Dr. Jerry Schneider. Dr. Schneider (1937–2021) received his medical degree from Northwestern University, followed by a pediatrics ...
Jerry Schneider, Elena Levtchenko
doaj   +1 more source

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

Multimodal imaging of infantile nephropathic cystinosis

Indian Journal of Ophthalmology. Case Reports, 2021
Cystinosis is a lysosomal storage disorder characterized by cystine crystal accumulation in different parts of body including the eyes. The purpose of this article was to describe different ophthalmological abnormalities in cystinosis using multimodal ...
Krishna K Roy, P Sen, M Lakshmipathy, Raj S Paul   +3 more
doaj   +1 more source