%0 Journal Article
%A Couce, Maria Luz
%A Sanchez-Pintos, Paula
%A Aldamiz-Echevarria, Luis
%A Vitoria, Isidro
%A Navas, Victor
%A Martin-Hernandez, Elena
%A Garcia-Volpe, Camila
%A Pintos, Guillem
%A Peña-Quintana, Luis
%A Hernandez, Tomas
%A Gil, David
%A Sanchez-Valverde, Felix
%A Bueno, Maria
%A Roca, Iria
%A Lopez-Ruzafa, Encarna
%A Diaz-Fernandez, Carmen
%T Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.
%D 2019
%U http://hdl.handle.net/10668/14573
%X 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 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.
%K Nephrocalcinosis
%K Phenotype
%K Severe liver dysfunction
%K Tubulopathy
%K Tyrosine
%~