Results 61 to 70 of about 5,436 (204)

Infantile Cystinosis [PDF]

, 2009
Infantile cystinosis is a rare disorder which leftuntreated results in end -stage renal disease early in life. Together with dehydration and electrolyte imbalance due to renal tubular Fanconi syndrome, endstage renal disease used to be the leading cause
Castro, I, Neves, R
core   +1 more source

Neuro-cognitive complications of nephropathic cystinosis

Journal of Rare Diseases, 2023
To review the neuro-cognitive complications of nephropathic cystinosis. Review of published information on neurological and cognitive complications of cystinosis. Nephropathic cystinosis is a rare disorder of cystine metabolism. Although renal failure is
D. Trauner
semanticscholar   +1 more source

Infantile nephropathic cystinosis with incomplete fanconi syndrome, hypothyroidism, hydro-uretero-nephrosis, and megacystis

Saudi Journal of Kidney Diseases and Transplantation, 2016
Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the accumulation of the amino-acid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe form of the disorder.
Vaishali More, Preeti Shanbag
doaj   +1 more source

Bioengineered Cystinotic Kidney Tubules Recapitulate a Nephropathic Phenotype

Cells, 2022
Nephropathic cystinosis is a rare and severe disease caused by disruptions in the CTNS gene. Cystinosis is characterized by lysosomal cystine accumulation, vesicle trafficking impairment, oxidative stress, and apoptosis. Additionally, cystinotic patients
Elena Sendino Garví, Rosalinde Masereeuw, Manoe J. Janssen   +2 more
doaj   +1 more source

CTNS mRNA as a potential treatment for nephropathic cystinosis

bioRxiv, 2023
Messenger RNA (mRNA) therapies are emerging in different disease areas, but have not yet reached the kidney field. Our aim was to study the feasibility to correct the genetic defect in nephropathic cystinosis using synthetic mRNA.
Tjessa Bondue, S. P. Berlingerio, F. Siegerist, Elena Sendino-Garví, Maximilian Schindler, S. Cairoli, B. Goffredo, F. O. Arcolino, J. Dieker, M. Janssen, N. Endlich, R. Brock, R. Gijsbers, L.C.E. van den Heuvel, E. Levtchenko   +14 more
semanticscholar   +1 more source

Cyclosporine A blocks autophagic flux in tubular epithelial cells by impairing TFEB‐mediated lysosomal function

Journal of Cellular and Molecular Medicine, Volume 25, Issue 12, Page 5729-5743, June 2021., 2021
Abstract Cyclosporine A (CsA) is an immunosuppressor widely used for the prevention of acute rejection during solid organ transplantation. However, severe nephrotoxicity has substantially limited its long‐term usage. Recently, an impaired autophagy pathway was suggested to be involved in the pathogenesis of chronic CsA nephrotoxicity.
Zhi‐hang Li, Ning An, Xi‐jie Huang, Chen Yang, Hong‐luan Wu, Xiao‐cui Chen, Qing‐jun Pan, Hua‐feng Liu   +7 more
wiley   +1 more source

Infantile nephropathic cystinosis [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2011
Introduction. Infantile nephropathic cystinosis (INC) is a metabolic disorder due to impaired carrier-mediated transport of cystine out of cellular lysosomes. Objective.
Peco-Antić Amira, Kostić Mirjana, Bogdanović Radovan, Spasojević Brankica, Đorđević Maja, Paripović Dušan, Kovačević Dragana   +6 more
doaj   +1 more source

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder? [PDF]

, 2015
We present the first two reported unrelated patients with an isolated sedoheptulokinase (SHPK) deficiency. The first patient presented with neonatal cholestasis, hypoglycemia, and anemia, while the second patient presented with congenital arthrogryposis ...
A Haschemi, Annette P. M. van den Elzen, Arvand Haschemi, Benjamin Nota, C Nagy, CW Bassim, Gajja S. Salomons, George J. G. Ruijter, Isabel Tavares de Almeida, JW Touchman, KA Freed, Luisa Diogo, Mirjam M. C. Wamelink, MM Wamelink, MM Wamelink, MM Wamelink, MM Wamelink, MM Wamelink, Nelson Neves, NM Verhoeven, Paula Garcia, Ramon Bonte, Ruben J. J. F. Ramos, SG Heil, T Kardon   +24 more
core   +4 more sources

Nephropathic Cystinosis The Challenge Continues

Genetics & Genomic Sciences, 2023
Cystinosis is a rare autosomal recessive metabolic disorder characterized by high intracellular content of free cystine which appears to be compartmentalized within ...
Essam Al-Sabban
semanticscholar   +1 more source

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

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   +3 more sources