title: Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults.
abstract: Nephropathic cystinosis is a multisystem autosomal recessive disease caused by cystine accumulation, which is usually treated by oral cysteamine. In order to determine long-term effects of this therapy, we enrolled 86 adult patients (mean age 26.7 years) diagnosed with nephropathic cystinosis, 75 of whom received cysteamine. Therapy was initiated at a mean age of 9.9 years with a mean duration of 17.4 years. By last follow-up, 78 patients had end-stage renal disease (mean age 11.1 years), 62 had hypothyroidism (mean age 13.4), 48 developed diabetes (mean age 17.1 years), and 32 had neuromuscular disorders (mean age 23.3 years). Initiating cysteamine therapy before 5 years of age significantly decreased the incidence and delayed the onset of end-stage renal disease, and significantly delayed the onset of hypothyroidism, diabetes, and neuromuscular disorders. The development of diabetes and hypothyroidism was still significantly delayed, however, in patients in whom therapy was initiated after 5 years of age, compared with untreated patients. The life expectancy was significantly improved in cysteamine-treated versus untreated patients. Thus, cysteamine decreases and delays the onset of complications and improves life expectancy in cystinosis. Hence, cysteamine therapy should be introduced as early as possible during childhood and maintained lifelong.
authors: Department of Nephrology, Necker-Enfants Malades Hospital, Paris, France. albanesarto@yahoo.fr
authors: Albane
authors: A
authors: Brodin-Sartorius
authors: Marie-Josèphe
authors: MJ
authors: Tête
authors: Patrick
authors: P
authors: Niaudet
authors: Corinne
authors: C
authors: Antignac
authors: Geneviève
authors: G
authors: Guest
authors: Chris
authors: C
authors: Ottolenghi
authors: Marina
authors: M
authors: Charbit
authors: Dominique
authors: D
authors: Moyse
authors: Christophe
authors: C
authors: Legendre
authors: Philippe
authors: P
authors: Lesavre
authors: Pierre
authors: P
authors: Cochat
authors: Aude
authors: A
authors: Servais
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003543:Cysteamine / Q000009:adverse effects / Q000627:therapeutic use*; D003554:Cystinosis / Q000150:complications / Q000188:drug therapy* / Q000235:genetics; D048909:Diabetes Complications / Q000150:complications; D018450:Disease Progression; D004522:Educational Status; D004651:Employment; D005198:Fanconi Syndrome; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007037:Hypothyroidism / Q000150:complications; D007223:Infant; D053208:Kaplan-Meier Estimate; D007676:Kidney Failure, Chronic / Q000209:etiology; D008297:Male; D008875:Middle Aged; D009404:Nephrotic Syndrome / Q000150:complications / Q000188:drug therapy* / Q000235:genetics; D009422:Nervous System Diseases / Q000150:complications; D009468:Neuromuscular Diseases / Q000150:complications; D011837:Radiation-Protective Agents / Q000009:adverse effects / Q000627:therapeutic use*; D055815:Young Adult
chemical_list: D026921:Amino Acid Transport Systems, Neutral; C111445:CTNS protein, human; D011837:Radiation-Protective Agents; D003543:Cysteamine