title: [Cystinosis in adults: A systemic disease].
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 knowledge of the disease to provide guidance to adult nephrologist to take care of his patients.
authors.affiliation: Service de néphrologie adulte et transplantation, centre de référence MARHEA, université Paris Descartes, hôpital Necker-Enfants malades, 149, rue de Sèvres, 75015 Paris, France. Electronic address: aude.servais@nck.aphp.fr.
authors.forename: Aude
authors.initials: A
authors.lastname: Servais
authors.affiliation: Service de génétique médicale, groupe hospitalier Pellegrin, CHU de Bordeaux, place Amélie-Raba-Léon, 33076 Bordeaux cedex, France.
authors.forename: Cyril
authors.initials: C
authors.lastname: Goizet
authors.affiliation: Service de néphrologie pédiatrique, centre de référence des maladies rénales rares, néphrogones, hôpital Femme-Mère-Enfant, hospices civils de Lyon, 59, boulevard Pinel, 69677 Bron cedex, France.
authors.forename: Aurélia
authors.initials: A
authors.lastname: Bertholet-Thomas
authors.affiliation: Service de pédiatrie, néphrologie, médecine interne et hypertension pédiatrique, centre de référence du sud-ouest des maladies rénales rares, SORARE, hôpital des enfants, CHU de Toulouse, 330, avenue de Grande-Bretagne, TSA 70034, 31059 Toulouse cedex 9, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Decramer
authors.affiliation: Service de néphrologie pédiatrique, centre de référence du sud-ouest des maladies rénales rares, SORARE, CHU de Bordeaux, groupe hospitalier Pellegrin, place Amélie-Raba-Léon, 33076 Bordeaux cedex, France.
authors.forename: Brigitte
authors.initials: B
authors.lastname: Llanas
authors.affiliation: Inserm UMR 1088, service de néphrologie, médecine interne, dialyse, transplantation, réanimation, université de Picardie-Jules-Verne, Amiens, hôpital Sud, CHU d'Amiens-Picardie, avenue René-Laënnec-Salouël, 80054 Amiens cedex 1, France.
authors.forename: Gabriel
authors.initials: G
authors.lastname: Choukroun
authors.affiliation: Service de néphrologie pédiatrique, hôpital Jeanne-de-Flandre, CHRU de Lille, avenue Eugène-Avinée, 59037 Lille cedex, France.
authors.forename: Robert
authors.initials: R
authors.lastname: Novo
mesh_terms: D000293:Adolescent; D000328:Adult; D003543:Cysteamine / Q000627:therapeutic use; D065104:Cystine Depleting Agents / Q000627:therapeutic use; D003554:Cystinosis / Q000150:complications / Q000188:drug therapy / Q000503:physiopathology / Q000628:therapy; D005198:Fanconi Syndrome / Q000209:etiology / Q000517:prevention & control; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology; D016030:Kidney Transplantation; D051437:Renal Insufficiency / Q000209:etiology
chemical_list: D065104:Cystine Depleting Agents; D003543:Cysteamine
keywords: Cysteamine; Cystinose; Cystinosis; Cystéamine; Fanconi syndrome; Lysosomal disease; Maladie lysosomale; Syndrome de Fanconi; Transplantation