Results 21 to 30 of about 48,474 (154)

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   +2 more sources

Metabolic Advantage of 25(OH)D₃ versus 1,25(OH)₂D₃ Supplementation in Infantile Nephropathic Cystinosis-Associated Adipose Tissue Browning and Muscle Wasting [PDF]

Cells, 2022
Manifestations of infantile nephropathic cystinosis (INC) often include cachexia and deficiency of circulating vitamin D metabolites. We examined the impact of 25(OH)D3 versus 1,25(OH)2D3 repletion in Ctns null mice, a mouse model of INC.
Ping Zhou, Wai W. Cheung, Alex Gonzalez, Venya Vaddi, Eduardo A. Oliveira, Robert H. Mak   +5 more
doaj   +2 more sources

Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis [PDF]

Nefrología (English Edition), 2015
Objective: Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in several body tissues due to a mutation in the CTNS gene, which encodes the cystinosin protein ...
Saied Jaradat, Bothina Al-Rababah, Issa Hazza, Kamal Akl, Edward Saca, Doaa Al-Younis   +5 more
doaj   +7 more sources

Infantile Nephropathic Cystinosis in Sulaimani Pediatric Teaching Hospital: A Retrospective Cohort Study [PDF]

Kurdistan Journal of Applied Research, 2018
Cystinosis is a rare metabolic autosomal recessive disorder which characterized by intralysosomal accumulation of cystine. There are three forms; infantile nephropathic is the commonest forms.
Hunar Jamal Hussein, Khalid Hama Salih, Adnan Mohammed Hasan   +2 more
doaj   +2 more sources

Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report

BMC Nephrology, 2017
Background Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes. Cystinosis is much rarer in Asian than Caucasian populations. There are only 14 patients have with cystinosis alive in Japan.
Satomi Higashi, Natsuki Matsunoshita, Masako Otani, Etsuro Tokuhiro, Kandai Nozu, Shuichi Ito   +5 more
doaj   +2 more sources

Nephropathic Cystinosis : First reported case in Oman [PDF]

Sultan Qaboos University Medical Journal, 2011
Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and extra renal manifestations.
Dana Al-Nabhani, Mohammed El-Naggari, Rana Al-Sinawi, Alexander P. Chacko, Anuradha Ganesh, Ibtisam El Nour   +5 more
doaj   +1 more source

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

Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study [PDF]

Journal of Inherited Metabolic Disease, 2022
AbstractInfantile nephropathic cystinosis (INC) is an inheritable lysosomal storage disorder characterized by lysosomal cystine accumulation, progressive kidney disease, and multiple extrarenal complications (ERCs). Cysteamine postpones the onset of end‐stage kidney disease (ESKD) and reduces the incidence of ERCs; however, cysteamine is generally ...
Veys, K., Zadora, W., Hohenfellner, K., Bockenhauer, D., Janssen, M.C.H., Janssen, M.C.H., Janssen, M.C.H., Niaudet, P., Servais, A., Topaloglu, R., Besouw, M., Novo, R., Haffner, D., Kanzelmeyer, N., Pape, L., Wühl, E., Harms, E., Awan, A., Sikora, P., Ariceta, G., van den Heuvel, B., van den Heuvel, B., van den Heuvel, B., Levtchenko, E.N.   +23 more
openaire   +11 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

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

Pediatric Nephrology, 2023
Miroslav Zivicnjak, Anja Büscher, Klaus Arbeiter   +2 more
exaly   +2 more sources