
Fulltext:
97776.pdf
Embargo:
until further notice
Size:
301.9Kb
Format:
PDF
Description:
publisher's version
Publication year
2011Source
Pediatric Nephrology, 26, 2, (2011), pp. 205-215ISSN
Publication type
Article / Letter to editor

Display more detailsDisplay less details
Organization
Paediatrics - OUD tm 2017
Pharmacology-Toxicology
Physiology
Laboratory of Genetic, Endocrine and Metabolic Diseases
Journal title
Pediatric Nephrology
Volume
vol. 26
Issue
iss. 2
Page start
p. 205
Page end
p. 215
Subject
IGMD 3: Genomic disorders and inherited multi-system disorders NCMLS 4: Energy and redox metabolism; IGMD 8: Mitochondrial medicine NCMLS 4: Energy and redox metabolism; IGMD 9: Renal disorder; IGMD 9: Renal disorder NCMLS 4: Energy and redox metabolism; IGMD 9: Renal disorder NCMLS 5: Membrane transport and intracellular motility; NCMLS 5: Membrane transport and intracellular motility IGMD 9: Renal disorder; IGMD 8: Mitochondrial medicine NCMLS 4: Energy and redox metabolism; IGMD 9: Renal disorder NCMLS 5: Membrane transport and intracellular motilityAbstract
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.
This item appears in the following Collection(s)
- Academic publications [205116]
- Electronic publications [103350]
- Faculty of Medical Sciences [81054]
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.