Results 11 to 20 of about 1,950 (208)

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

J Cachexia Sarcopenia Muscle, 2021
Abstract Background 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 cause for cachexia.
Cheung WW, Hao S, Zheng R, Wang Z, Gonzalez A, Zhou P, Hoffman HM, Mak RH.   +7 more
europepmc   +4 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

In Vitro and In Vivo Models to Study Nephropathic Cystinosis [PDF]

Cells, 2021
The development over the past 50 years of a variety of cell lines and animal models has provided valuable tools to understand the pathophysiology of nephropathic cystinosis. Primary cultures from patient biopsies have been instrumental in determining the
Pang Yuk Cheung, Patrick T. Harrison, Alan J. Davidson, Jennifer A. Hollywood   +3 more
doaj   +2 more sources

Long-term clinical benefits of delayed-release cysteamine bitartrate capsules in patients with nephropathic cystinosis (response to “A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis”) [PDF]

Orphanet Journal of Rare Diseases, 2023
The aim of this letter to the editor is to summarize the results from three clinical trial programs evaluating delayed-release cysteamine bitartrate (DR-CYS), which demonstrated the long-term clinical benefits in patients with nephropathic cystinosis ...
Craig B. Langman
doaj   +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

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   +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

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

Crystalline keratopathy in nephropathic cystinosis. [PDF]

Sudan J Paediatr, 2019
A 3-year-old male child presented with complaints of poor weight gain, delayed motor milestones since 1 year of age and features suggestive of rickets (wrist widening, bowing of legs and Harrison’s sulcus). He was third born of a third degree consanguineous marriage, had polyuria, with investigations revealing proximal renal tubular acidosis and ...
Priyanka, Bhatt GC, Kumar A, Takkar B.
europepmc   +4 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. Because of its rarity, the diagnosis and specific treatment of cystinosis are frequently delayed, which has a significant impact on the
Emma, F., Nesterova, G., Langman, C., Labbe, A., Cherqui, S., Goodyer, P., Janssen, M.C., Janssen, M.C., Greco, M., Topaloglu, R., Elenberg, E., Dohil, R., Trauner, D., Antignac, C., Cochat, P., Kaskel, F., Servais, A., Wuhl, E., Niaudet, P., van 't Hoff, W., Gahl, W., Levtchenko, E.N.   +21 more
openaire   +9 more sources