Results 11 to 20 of about 5,436 (204)

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   +3 more sources

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

Journal of Cachexia, Sarcopenia and Muscle, 2021
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 ...
Hal M Hoffman, Robert H Mak
exaly   +4 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.
Kerwin, Maggie, Pineda, Silvia, Sansanwal, Poonam, Sarwal, Minnie, Sigdel, Tara, Sirota, Marina, Sur, Swastika   +6 more
core   +4 more sources

Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants [PDF]

Pediatr Nephrol, 2023
Infantile nephropathic cystinosis (INC) is a systemic lysosomal storage disease causing intracellular cystine accumulation, resulting in renal Fanconi syndrome, progressive kidney disease (CKD), rickets, malnutrition, and myopathy.
Sophia Müller, Rika Kluck, Celina Jagodzinski, Malina Brügelmann, Katharina Hohenfellner, Anja Büscher, Markus J. Kemper, Kerstin Fröde, Jun Oh, Heiko Billing, Julia Thumfart, Lutz T. Weber, Birgit Acham‐Roschitz, Klaus Arbeiter, Burkhard Tönshoff, Martina Hagenberg, Leo Pavičić, Dieter Haffner, Miroslav Živičnjak   +18 more
europepmc   +3 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.
Mark W. Joseph, Deborah R. Stein, Adam C. Stein   +2 more
europepmc   +3 more sources

Impact of compliance to oral cysteamine treatment on the costs of Kidney failure in patients with nephropathic cystinosis in the United Kingdom [PDF]

BMC Nephrol, 2023
Background Nephropathic Cystinosis (NC), a rare disease characterised by intra-lysosomal accumulation of cystine, results in progressive kidney failure (KF). Compliance to lifelong oral cysteamine, the only therapy, is often compromised. The relationship
Seun Lashilola, Weiwei Xu, Khashayar Azimpour, Michael McCarthy, Sara Carlot, David Game, Judith van der Voort   +6 more
europepmc   +3 more sources

Genetic Landscape of Nephropathic Cystinosis in Russian Children [PDF]

Front Genet, 2022
Nephropathic cystinosis is a rare autosomal recessive disorder characterized by amino acid cystine accumulation and caused by biallelic mutations in the CTNS gene.
Kirill V. Savostyanov, А. А. Пушков, Olga Shchagina, Valentina V. Maltseva, E. A. Suleymanov, Ilya S. Zhanin, N. N. Mazanova, Аndrey P. Fisenko, P. S. Mishakova, A. V. Polyakov, Elena Balanovska, Р. А. Зинченко, А.Н. Цыгин   +12 more
europepmc   +3 more sources

Cortical impairment and reduced muscle mass in children and young adults with nephropathic cystinosis [PDF]

J Bone Miner Res
Nephropathic cystinosis is an orphan autosomal recessive lysosomal storage disease characterized by a deficiency of cystinosin, a cystine transporter protein, leading to tissue damage, primarily in the kidney and cornea.
Susanne Bechtold‐Dalla Pozza, Simon Lemster, Nadine Herzig, Katharina Vill, Ilja Dubinski, Katharina Hohenfellner, Simon Lemster, Susanne Bechtold‐Dalla Pozza, Nadine Herzig, Katharina Vill, Ilja Dubinski, Katharina Hohenfellner   +11 more
europepmc   +4 more sources

Leptin signalling altered in infantile nephropathic cystinosis-related bone disorder. [PDF]

J Cachexia Sarcopenia Muscle
The CTNS gene mutation causes infantile nephropathic cystinosis (INC). Patients with INC develop Fanconi syndrome and chronic kidney disease (CKD) with significant bone deformations.
Cheung WW, Zhou P, Zheng R, Gertler A, Oliveira EA, Mak RH.   +5 more
europepmc   +3 more sources

Genistein improves renal disease in a mouse model of nephropathic cystinosis: a comparison study with cysteamine [PDF]

Hum Mol Genet, 2022
Cysteamine is currently the only therapy for nephropathic cystinosis. It significantly improves life expectancy and delays progression to end-stage kidney disease; however, it cannot prevent it.
Ester De Leo, Anna Taranta, Roberto Raso, Elena Polishchuk, Valentina Doria, Marco Pezzullo, Bianca Maria Goffredo, Sara Cairoli, Francesco Bellomo, Giulia Battafarano, Francesca Diomedi‐Camassei, Andrea Del Fattore, Roman Polishchuk, Francesco Emma, Laura Rita Rega   +14 more
europepmc   +3 more sources