Cystinosis in adults: A systemic disease

Néphrologie & thérapeutique
Aude ServaisRobert Novo

Abstract

Cystinosis is a multisystemic autosomal recessive disorder characterized by an intra-lysosomal accumulation of cystine. It is due to a defect of cystine transport through the membrane of the lysosome. The classical infantile form is characterized by a proximal tubulopathy, corneal cystine crystals and progressive renal failure, leading to end stage renal disease before 20 years of age in 90% of cases in historical cohorts. It is the most common cause of Fanconi syndrome in children. Due to recent progress in renal transplantation and to the specific treatment with cysteamine, patients survival improved significantly in the last years and adult nephrologists take care of such patients. However, disease evolution is characterized by other complications: endocrinological (hypothyroidism, diabetes, male hypogonadism), neuromuscular and of the central nervous system. Cysteamine delays the onset of these complications. A multidisciplinary team should take care of these patients, even if the nephrologist remains in first line. Apart from infantile form, there is a juvenile form, with a later onset, and an adult form, which may be only ocular, although renal involvement may be associated. The aim of this revue is to summarize actual kn...Continue Reading

References

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Citations

Sep 10, 2020·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Segolene GaillardAurélia Bertholet-Thomas
Apr 15, 2021·Orphanet Journal of Rare Diseases·Ana A FranciscoSophie Molholm

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