Results 11 to 20 of about 2,360 (185)

Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities [PDF]

Journal of Inherited Metabolic Disease, Volume 45, Issue 2, Page 192-202, March 2022., 2022
Abstract Children with infantile nephropathic cystinosis (INC), an inherited lysosomal storage disease resulting in cystine accumulation in all body cells, are prone to progressive chronic kidney disease (CKD), impaired growth and reduced weight gain; however, systematic anthropometric analyses are lacking.
Rika Kluck, Sophia Müller, Celina Jagodzinski, Katharina Hohenfellner, Anja Büscher, Markus J. Kemper, Jun Oh, Heiko Billing, Julia Thumfart, Lutz T. Weber, Birgit Acham‐Roschitz, Klaus Arbeiter, Burkhard Tönshoff, Martina Hagenberg, Nele Kanzelmeyer, Leo Pavičić, Dieter Haffner, Miroslav Živičnjak   +17 more
openalex   +2 more sources

Biomarkers in Nephropathic Cystinosis: Current and Future Perspectives. [PDF]

Cells, 2022
Early diagnosis and effective therapy are essential for improving the overall prognosis and quality of life of patients with nephropathic cystinosis. The severity of kidney dysfunction and the multi-organ involvement as a consequence of the increased ...
Emma F, Montini G, Pennesi M, Peruzzi L, Verrina E, Goffredo BM, Canalini F, Cassiman D, Rossi S, Levtchenko E.   +9 more
europepmc   +3 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

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

Native kidney and graft survival in a cohort of Egyptian children with nephropathic cystinosis: national referral center experience [PDF]

Italian Journal of Pediatrics
Background Nephropathic Cystinosis is a rare autosomal recessive lysosomal storage disorder. In addition to kidney dysfunction, this disorder can also affect other organs, such as the eyes, thyroid, muscles, and central nervous system.
Rasha Helmy, Fatma M. Atia, Neveen A. Soliman   +2 more
doaj   +2 more sources

Neuromuscular conditions and the impact of cystine‐depleting therapy in infantile nephropathic cystinosis: A cross‐sectional analysis of 55 patients [PDF]

Journal of Inherited Metabolic Disease, Volume 45, Issue 2, Page 183-191, March 2022., 2022
Infantile nephropathic cystinosis (INC) is a rare lysosomal storage disease caused by biallelic mutations in the cystinosin gene, leading to cystine accumulation in various organs.
Harms, Erik, Herzig, Nadine, Hohenfellner, Katharina, Holla, Heike, Knerr, Christine, Köppl, Christian, Landfarth, Timotheus, Müller‐Felber, Wolfgang, Steidle, Günther, Vill, Katharina   +9 more
core   +2 more sources

Nephropathic cystinosis: an international consensus document [PDF]

Nephrology Dialysis Transplantation, 2014
Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of inherited renal Fanconi syndrome in young children.
Stephanie Cherqui, Rezan Topaloglu, Ewa Elenberg   +2 more
exaly   +7 more sources

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

J Cachexia Sarcopenia Muscle
Abstract Background The CTNS gene mutation causes infantile nephropathic cystinosis (INC). Patients with INC develop Fanconi syndrome and chronic kidney disease (CKD) with significant bone deformations. C57BL/6 Ctns−/− mice are an animal model for studying INC. Hyperleptinaemia results from the kidney's inability to eliminate the hormone leptin in CKD.
Cheung WW, Zhou P, Zheng R, Gertler A, Oliveira EA, Mak RH.   +5 more
europepmc   +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.
Sur S, Kerwin M, Pineda S, Sansanwal P, Sigdel TK, Sirota M, Sarwal MM.   +6 more
europepmc   +4 more sources

Cysteamine bitartrate delayed‐release capsules control leukocyte cystine levels and promote statural growth and kidney health in an open‐label study of treatment‐naïve patients <6 years of age with nephropathic cystinosis

JIMD Reports, 2022
Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disease that is characterized by accumulation of cysteine and formation of crystals within cells of different organs and tissues causing systemic manifestations in childhood that ...
Maria Helena Vaisbich, Juliana Caires Ferreira, Heather Price, Kyleen D. Young, Saba Sile, Gregg Checani, Craig B. Langman   +6 more
doaj   +2 more sources