"Cystinosis" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.
| Descriptor ID |
D003554
|
| MeSH Number(s) |
C16.320.565.595.377 C18.452.648.595.377
|
| Concept/Terms |
Cystinosis- Cystinosis
- Cystine Disease
- Cystine Diseases
- Cystine Storage Disease
- Cystine Storage Diseases
- Storage Disease, Cystine
- Storage Diseases, Cystine
- Cystinoses
- Lysosomal Cystine Transport Protein, Defect Of
- Cystinosin, Defect of
- Defect of Cystinosin
- Defect of Cystinosins
- Nephropathic Cystinosis
- Cystine Diathesis
- Cystine Diatheses
- Diatheses, Cystine
- Diathesis, Cystine
- Cystinosis, Nephropathic
- Cystinoses, Nephropathic
- Nephropathic Cystinoses
|
Below are MeSH descriptors whose meaning is more general than "Cystinosis".
Below are MeSH descriptors whose meaning is more specific than "Cystinosis".
This graph shows the total number of publications written about "Cystinosis" by people in this website by year, and whether "Cystinosis" was a major or minor topic of these publications.
To see the data from this visualization as text,
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1998 | 1 | 0 | 1 |
| 2009 | 1 | 0 | 1 |
| 2014 | 2 | 0 | 2 |
| 2016 | 2 | 0 | 2 |
| 2019 | 1 | 0 | 1 |
| 2020 | 1 | 0 | 1 |
| 2022 | 1 | 0 | 1 |
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Below are the most recent publications written about "Cystinosis" by people in Profiles.
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Newborn Screening: Review of its Impact for Cystinosis. Cells. 2022 03 25; 11(7).
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Ruptured gallbladder in cystinosis renal transplant recipient. Kidney Int. 2020 06; 97(6):1304.
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Management of bone disease in cystinosis: Statement from an international conference. J Inherit Metab Dis. 2019 09; 42(5):1019-1029.
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Synergistic Cysteamine Delivery Nanowafer as an Efficacious Treatment Modality for Corneal Cystinosis. Mol Pharm. 2016 10 03; 13(10):3468-3477.
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Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells. Kidney Int. 2016 Apr; 89(4):862-73.
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Nephropathic cystinosis: an international consensus document. Nephrol Dial Transplant. 2014 Sep; 29 Suppl 4:iv87-94.
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Quality of life is improved and kidney function preserved in patients with nephropathic cystinosis treated for 2 years with delayed-release cysteamine bitartrate. J Pediatr. 2014 Sep; 165(3):528-33.e1.
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Mitochondrial autophagy promotes cellular injury in nephropathic cystinosis. J Am Soc Nephrol. 2010 Feb; 21(2):272-83.
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Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis. Pediatr Nephrol. 2009 Jul; 24(7):1371-8.
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Feeding problems in cystinosis. Pediatr Nephrol. 1998 Jun; 12(5):365-70.