Biomarkers in Nephropathic Cystinosis: Current and Future Perspectives.
Cells
; 11(11)2022 06 04.
Article
in En
| MEDLINE
| ID: mdl-35681534
ABSTRACT
Early diagnosis and effective therapy are essential for improving the overall prognosis and quality of life of patients with nephropathic cystinosis. The severity of kidney dysfunction and the multi-organ involvement as a consequence of the increased intracellular concentration of cystine highlight the necessity of accurate monitoring of intracellular cystine to guarantee effective treatment of the disease. Cystine depletion is the only available treatment, which should begin immediately after diagnosis, and not discontinued, to significantly slow progression of renal and extra-renal organ damage. This review aims to discuss the importance of the close monitoring of intracellular cystine concentration to optimize cystine depletion therapy. In addition, the role of new biomarkers in the management of the disease, from timely diagnosis to implementing treatment during follow-up, is overviewed.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cystinosis
/
Fanconi Syndrome
Type of study:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Aspects:
Patient_preference
Limits:
Humans
Language:
En
Journal:
Cells
Year:
2022
Document type:
Article