2026-04-17T06:03:17Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/51302025-10-24T10:31:55Zcom_2072_378070com_2072_378040col_2072_378092

00925njm 22002777a 4500 dc Sánchez-Pintos, Paula author Aldámiz-Echevarría, Luís author Vitoria, Isidro author Navas-López, Víctor Manuel author Pintos Morell, Guillem author Couce, Maria Luz author Martín-Hernández, Elena author 2020-07-31T13:05:37Z 2020-07-31T13:05:37Z 2019-09-01 Nephrocalcinosis; Phenotype; Severe liver dysfunction Nefrocalcinosis; Fenotipo; Disfunción hepática grave Nefrocalcinosi; Fenotip; Disfunció hepàtica greu Treatment with nitisinone (NTBC) has brought about a drastic improvement in the treatment and prognosis of hereditary tyrosinemia type I (HT1). We conducted a retrospective observational multicentric study in Spanish HT1 patients treated with NTBC to assess clinical and biochemical long-term evolution.We evaluated 52 patients, 7 adults and 45 children, treated with NTBC considering: age at diagnosis, diagnosis by clinical symptoms, or by newborn screening (NBS); phenotype (acute/subacute/chronic), mutational analysis; symptoms at diagnosis and clinical course; biochemical markers; doses of NTBC; treatment adherence; anthropometric evolution; and neurocognitive outcome.The average follow-up period was 6.1 ± 4.9 and 10.6 ± 5.4 years in patients with early and late diagnosis respectively. All patients received NTBC from diagnosis with an average dose of 0.82 mg/kg/d. All NBS-patients (n = 8) were asymptomatic at diagnosis except 1 case with acute liver failure, and all remain free of liver and renal disease in follow-up. Liver and renal affectation was markedly more frequent at diagnosis in patients with late diagnosis (P < .001 and .03, respectively), with ulterior positive hepatic and renal course in 86.4% and 93.2% of no-NBS patients, although 1 patient with good metabolic control developed hepatocarcinoma.Despite a satisfactory global nutritional evolution, 46.1% of patients showed overweight/obesity. Interestingly lower body mass index was observed in patients with good dietary adherence (20.40 ± 4.43 vs 24.30 ± 6.10; P = .08) and those with good pharmacological adherence (21.19 ± 4.68 vs 28.58 ± 213.79).intellectual quotient was ≥85 in all NBS- and 68.75% of late diagnosis cases evaluated, 15% of which need pedagogical support, and 6.8% (3/44) showed school failure.Among the 12 variants identified in fumarylacetoacetate hydrolase gene, 1 of them novel (H63D), the most prevalent in Spanish population is c.554-1 G>T.After NTBC treatment a reduction in tyrosine and alpha-fetoprotein levels was observed in all the study groups, significant for alpha-fetoprotein in no NBS-group (P = .03), especially in subacute/chronic forms (P = .018).This series confirms that NTBC treatment had clearly improved the prognosis and quality of life of HT1 patients, but it also shows frequent cognitive dysfunctions and learning difficulties in medium-term follow-up, and, in a novel way, a high percentage of overweight/obesity. http://hdl.handle.net/11351/5130 Tiroide - Malalties Ciclohexà Qualitat de vida DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Amino Acid Metabolism, Inborn Errors::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Tyrosinemias /complications CHEMICALS AND DRUGS::Organic Chemicals::Hydrocarbons::Hydrocarbons, Cyclic::Hydrocarbons, Alicyclic::Cycloparaffins::Cyclohexanes::Cyclohexanones /therapeutic use HEALTH CARE::Environment and Public Health::Public Health::Epidemiologic Measurements::Demography::Health Status::Quality of Life ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::enfermedades cerebrales metabólicas congénitas::tirosinemias /complicaciones COMPUESTOS QUÍMICOS Y DROGAS::compuestos orgánicos::hidrocarburos::hidrocarburos cíclicos::hidrocarburos alicíclicos::cicloparafinas::ciclohexanos::ciclohexanonas /uso terapéutico ATENCIÓN DE SALUD::ambiente y salud pública::salud pública::medidas epidemiológicas::demografía::estado de salud::calidad de vida Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain