title: [Nephropathic cystinosis: report of 2 cases and review of the literature].
abstract: We describe two patients with infantile nephropathic cystinosis who presented nephrogenic diabetes insipidus in addition to Fanconi syndrome. After the diagnosis was confirmed by slit-lamp examination that showed crystallization of the cornea and by the presence of cystine crystals in the bone marrow, the patients underwent conservative and supportive treatment including correction of acidosis, replacement of fluid losses and protection from bone demineralization with replacement of phosphorus, calcium and vitamin D. Patient 1 deceased after an episode of bronchopneumonia complicated by profound acidosis. Patient 2 was started on cysteamine which effectively reduce cystine in body tissues and prevents or slows progression of end-organ damage.
authors.affiliation: Disciplina de Endocrinologia e Metabologia, Unidade Hipotálamo-Hipófise, Hospital das Clínicas da Faculdade de Medicina.
authors.forename: M
authors.initials: M
authors.lastname: Knoepfelmacher
authors.forename: R
authors.initials: R
authors.lastname: Rocha
authors.forename: L R
authors.initials: LR
authors.lastname: Salgado
authors.forename: M
authors.initials: M
authors.lastname: Semer
authors.forename: D
authors.initials: D
authors.lastname: Voss
authors.forename: B L
authors.initials: BL
authors.lastname: Wajchenberg
authors.forename: B
authors.initials: B
authors.lastname: Liberman
mesh_terms: D000293:Adolescent; D002675:Child, Preschool; D003543:Cysteamine / Q000627:therapeutic use; D003554:Cystinosis / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D003919:Diabetes Insipidus / Q000150:complications / Q000175:diagnosis; D005198:Fanconi Syndrome / Q000150:complications / Q000175:diagnosis; D017809:Fatal Outcome; D006801:Humans; D008297:Male
chemical_list: D003543:Cysteamine
vernacular_title: Cistinose nefropática: relato de 2 casos e revisão da literatura.