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Cystinosis: practical tools for diagnosis and treatment
- Source :
- Pediatric Nephrology, 26, 205-15, Pediatric Nephrology, 26, 2, pp. 205-15, Pediatric Nephrology (Berlin, Germany)
- Publication Year :
- 2011
-
Abstract
- Contains fulltext : 97776.pdf (Publisher’s version ) (Closed access) Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage. The diagnosis can be missed in infants, because not all signs of renal Fanconi syndrome are present during the first months of life. In older patients cystinosis can mimic idiopathic nephrotic syndrome due to focal and segmental glomerulosclerosis. Measuring elevated white blood cell cystine content is the corner stone for the diagnosis. The diagnosis is confirmed by molecular analysis of the cystinosin gene. Corneal cystine crystals are invariably present in all patients with cystinosis after the age of 1 year. Treatment with the cystine depleting drug cysteamine should be initiated as soon as possible and continued lifelong to prolong renal function survival and protect extra-renal organs. This educational feature provides practical tools for the diagnosis and treatment of cystinosis.
- Subjects :
- Nephrology
medicine.medical_specialty
Pediatrics
Pathology
Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3]
Cysteamine
Cystinosis
Kidney
Renal disorder Energy and redox metabolism [IGMD 9]
Diagnosis, Differential
chemistry.chemical_compound
Internal medicine
medicine
Proximal tubule
Humans
Cystinosin
Educational Review
Renal disorder [IGMD 9]
business.industry
Fanconi syndrome
Mitochondrial medicine Energy and redox metabolism [IGMD 8]
medicine.disease
Renal disorder Membrane transport and intracellular motility [IGMD 9]
medicine.anatomical_structure
Membrane transport and intracellular motility Renal disorder [NCMLS 5]
chemistry
Pediatrics, Perinatology and Child Health
Failure to thrive
Renal Fanconi syndrome
Differential diagnosis
medicine.symptom
business
Subjects
Details
- ISSN :
- 0931041X
- Database :
- OpenAIRE
- Journal :
- Pediatric Nephrology, 26, 205-15, Pediatric Nephrology, 26, 2, pp. 205-15, Pediatric Nephrology (Berlin, Germany)
- Accession number :
- edsair.doi.dedup.....78a399e16ab58e354bc5c06ed398159b