Results 61 to 70 of about 1,000 (164)

A case of corneal cystinosis in a patient with rickets and chronic renal failure

Indian Journal of Ophthalmology, 2015
A 22-year-old man diagnosed with nephropathic cystinosis at the age of 4 years was found to have progressive bilateral corneal crystal deposition. He presented with severe photophobia and decreased visual acuity.
Jae Yon Won, Hyung Bin Hwang, Sung Kun Chung   +2 more
doaj   +1 more source

Computational Drug Repositioning in Cardiorenal Disease: Opportunities, Challenges, and Approaches

PROTEOMICS, Volume 25, Issue 11-12, June 2025.
Paul Perco, Matthias Ley, Kinga Kęska‐Izworska, Dorota Wojenska, Enrico Bono, Samuel M. Walter, Lucas Fillinger, Klaus Kratochwill   +7 more
wiley   +1 more source

Role of biomarkers of inflammation and MRI technique for the early detection of cystinosis-associated myopathy

Egyptian Pediatric Association Gazette
Background Cystinosis is an autosomal recessive lysosomal storage disorder caused by cystine crystals accumulation within lysosomes resulting in multi-organ dysfunction.
Rasha Helmy, Rasha Selim Mahmoud, Mohamed A. Elmonem, Sally Emadeldin, Neveen Abd Elmonem Soliman   +4 more
doaj   +1 more source

Altered mTOR signalling in nephropathic cystinosis [PDF]

Journal of Inherited Metabolic Disease, 2016
AbstractLysosomes play a central role in regulating autophagy via activation of mammalian target of rapamycin complex 1 (mTORC1). We examined mTORC1 signalling in the lysosomal storage disease nephropathic cystinosis (MIM 219800), in which accumulation of autophagy markers has been previously demonstrated.
Ivanova, E.A., Heuvel, L.P.W.J. van den, Elmonem, M.A., Smedt, H. De, Missiaen, L., Pastore, A., Mekahli, D., Bultynck, G., Levtchenko, E.N.   +8 more
openaire   +2 more sources

Pulmonary dysfunction in children with Cystinosis: single center study, original article

Egyptian Pediatric Association Gazette, 2022
Background Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin.
Dina H. Hamed, Radwa Mohamed Abdel Halim, Mona Mohsen El Attar, Neveen A. Soliman, Hanan Mohsen Osman   +4 more
doaj   +1 more source

Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney

Nature Communications, 2018
Nephropathic cystinosis is a lysosomal storage disease characterized by proximal tubular cell dysfunction. Here Festa and colleagues show that these lysosomal alterations lead to defective autophagic clearance of mitochondria and increased oxidative ...
Beatrice Paola Festa, Zhiyong Chen, Marine Berquez, Huguette Debaix, Natsuko Tokonami, Jenny Ann Prange, Glenn van de Hoek, Cremonesi Alessio, Andrea Raimondi, Nathalie Nevo, Rachel H. Giles, Olivier Devuyst, Alessandro Luciani   +12 more
doaj   +1 more source

Early genetic diagnosis of cystinosis before corneal crystal deposition: two case reports from South India [PDF]

Childhood Kidney Diseases
Cystinosis is a rare autosomal recessive lysosomal storage disorder with an incidence of approximately 1 in 100,000 to 200,000 live births. It is the most common cause of inherited pediatric Fanconi syndrome (FS).
Lubna K. P., Rehna K. Rahman, Preetha Remesh, Manjula Anand, Nirmal Jayadevan, Divya Pachat   +5 more
doaj   +1 more source

Hirschsprung′s disease with infantile nephropathic cystinosis

Journal of Indian Association of Pediatric Surgeons, 2015
The case of a 3-year-old boy diagnosed to have Hirschsprung's disease with infantile nephropathic cystinosis is being reported. Both these conditions are etiologically and genetically different as per current understanding and available information. The association is incidental and has not reported before in the English literature.
Mittal, Deepak, Bagga, Arvind, Tandon, Radhika, Sharma, Mehar Chand, Bhatnagar, Veereshwar   +4 more
openaire   +2 more sources

Clinical perspectives on myopathic complications in nephropathic cystinosis

Journal of Rare Diseases
Patients with nephropathic cystinosis are now living into their 50s and beyond thanks to advances in medical management. Due to this shift in the natural history of the disease, monitoring for and addressing extrarenal manifestations, including myopathy,
Reza Sadjadi, Cybele Ghossein, Ewa Elenberg   +2 more
doaj   +1 more source

Neuropathic Cystinosis: A Rare Case Report

مجله كليه طب الكندي
Cystinosis is a lysosomal storage disease characterized by an intracellular accumulation of cystine in different organs and tissues, leading to potentially severe organ dysfunction.
Ahmed Muthana, Rabab Farhan Thejeal, Ikhlas Ali Ahmed   +2 more
doaj   +1 more source