Results 21 to 30 of about 5,436 (204)

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
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 ...
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
semanticscholar   +3 more sources

Ketogenic Diet and Progression of Kidney Disease in Animal Models of Nephropathic Cystinosis

J Am Soc Nephrol
Visual Abstract Key Points Ketogenic diet can change the metabolism in the body and helped restore the function of altered pathways in nephropathic cystinosis.
Francesco Bellomo, Sara Pugliese, Sara Cairoli, Patrick Krohn, Cristiano De Stefanis, Roberto Raso, Laura Rita Rega, Anna Taranta, Ester De Leo, Andrea Ciolfi, Nicolò Cicolani, Stefania Petrini, Alessandro Luciani, Bianca Maria Goffredo, Ottavia Porzio, Olivier Devuyst, Carlo Dionisi‐Vici, Francesco Emma   +17 more
europepmc   +4 more sources

Health‐related quality of life and patient‐reported outcome measurements in patients with cystinosis

JIMD Reports, 2023
Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder. With the availability of treatment and renal replacement therapy, nephropathic cystinosis has evolved from an early fatal disease to a chronic, progressive disorder with ...
Stefanie Witt, Kaja Kristensen, Katharina Hohenfellner, Julia Quitmann   +3 more
doaj   +2 more sources

Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis [PDF]

Mol Genet Metab, 2022
Gahl, William Allen, Haffner, Dieter, Hohenfellner, Katharina, Nießl, Christina, Oh, Jun, Okorn, Christine, Palm, Katja, Schlingmann, Karl-Peter, Wygoda, Simone   +8 more
core   +3 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

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

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

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

Transition from pediatric to adult nephropathic cystinosis care: the structure, challenges and lessons learned [PDF]

Frontiers in Pediatrics
Cystinosis is a rare, autosomal recessive disorder that results in a build up of the amino acid cystine in the body ( 1). With early diagnosis and advances in patient prognosis over the years, this has led to an increasing number of adolescents and ...
Brianna Borsheim, Andrew Vissing, Andrew Vissing, Cybele Ghossein, Cybele Ghossein   +4 more
doaj   +2 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