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Controversies and research agenda in nephropathic cystinosis: conclusions from a 'Kidney Disease: Improving Global Outcomes' (KDIGO) Controversies Conference
- Source :
- Kidney International. Supplement, 89, 6, pp. 1192-203, Kidney International. Supplement, 89, 1192-203
- Publication Year :
- 2016
-
Abstract
- Item does not contain fulltext Nephropathic cystinosis is an autosomal recessive metabolic, lifelong disease characterized by lysosomal cystine accumulation throughout the body that commonly presents in infancy with a renal Fanconi syndrome and, if untreated, leads to end-stage kidney disease (ESKD) in the later childhood years. The molecular basis is due to mutations in CTNS, the gene encoding for the lysosomal cystine-proton cotransporter, cystinosin. During adolescence and adulthood, extrarenal manifestations of cystinosis develop and require multidisciplinary care. Despite substantial improvement in prognosis due to cystine-depleting therapy with cysteamine, no cure of the disease is currently available. Kidney Disease: Improving Global Outcomes (KDIGO) convened a Controversies Conference on cystinosis to review the state-of-the-art knowledge and to address areas of controversies in pathophysiology, diagnostics, monitoring, and treatment in different age groups. More importantly, promising areas of investigation that may lead to optimal outcomes for patients afflicted with this lifelong, systemic disease were discussed with a research agenda proposed for the future.
- Subjects :
- Adult
0301 basic medicine
medicine.medical_specialty
Systemic disease
Pathology
Adolescent
Cysteamine
Cystinosis
030232 urology & nephrology
Graft vs Host Disease
Disease
03 medical and health sciences
chemistry.chemical_compound
Rare Diseases
0302 clinical medicine
Renal Dialysis
Nephropathic Cystinosis
medicine
Humans
Genetic Testing
Child
Cystine Depleting Agents
Intensive care medicine
Immunosuppression Therapy
business.industry
Age Factors
Hematopoietic Stem Cell Transplantation
Infant
Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]
Genetic Therapy
Congresses as Topic
Fanconi Syndrome
medicine.disease
Kidney Transplantation
Amino Acid Transport Systems, Neutral
030104 developmental biology
Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11]
Cystinosin
chemistry
Nephrology
Mutation
Cystine
Kidney Failure, Chronic
Biomarker (medicine)
Lysosomes
business
Kidney disease
Subjects
Details
- ISSN :
- 21571724
- Database :
- OpenAIRE
- Journal :
- Kidney International. Supplement, 89, 6, pp. 1192-203, Kidney International. Supplement, 89, 1192-203
- Accession number :
- edsair.doi.dedup.....635546248ea09931552c6117da8853cf