title: Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis.
abstract: Primary hypothyroidism is a known complication of nephropathic cystinosis, a lysosomal storage disorder characterized by renal failure as well as deterioration of other organs. The drug cysteamine depletes lysosomes of cystine and helps preserve renal function and enhance growth in cystinosis patients. To determine whether cysteamine also prevents hypothyroidism, we retrospectively divided 101 patients into group A (n = 28; well treated), group B (n = 26; partially treated), and group C (n = 47; poorly treated). Lifetable analysis indicated a significantly higher probability of remaining free of L-T4 replacement in group A vs. group B (P = 0.09) or group C (P = 0.004). Cysteamine therapy also improved mean height z-scores (-2.17 in group A, -3.04 in group B, and -4.07 in group C) and reduced the bone age deficit (i.e. chronological age minus bone age) by 1.5 yr for every 10 yr of previous cysteamine therapy. We conclude that in addition to its other salutary effects, oral cysteamine therapy helps prevent hypothyroidism and enhances growth in patients with nephropathic cystinosis.
authors.affiliation: National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892-1830, USA.
authors.forename: V E
authors.initials: VE
authors.lastname: Kimonis
authors.forename: J
authors.initials: J
authors.lastname: Troendle
authors.forename: S R
authors.initials: SR
authors.lastname: Rose
authors.forename: M L
authors.initials: ML
authors.lastname: Yang
authors.forename: T C
authors.initials: TC
authors.lastname: Markello
authors.forename: W A
authors.initials: WA
authors.lastname: Gahl
mesh_terms: D000293:Adolescent; D000328:Adult; D000365:Age Determination by Skeleton; D002648:Child; D002675:Child, Preschool; D003543:Cysteamine / Q000627:therapeutic use*; D003554:Cystinosis / Q000150:complications / Q000188:drug therapy* / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D012189:Retrospective Studies; D013961:Thyroid Gland / Q000187:drug effects / Q000254:growth & development / Q000503:physiopathology*; D013974:Thyroxine / Q000627:therapeutic use; D013997:Time Factors
chemical_list: D003543:Cysteamine; D013974:Thyroxine