RT Journal Article
T1 Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.
A1 Couce, Maria Luz
A1 Sanchez-Pintos, Paula
A1 Aldamiz-Echevarria, Luis
A1 Vitoria, Isidro
A1 Navas, Victor
A1 Martin-Hernandez, Elena
A1 Garcia-Volpe, Camila
A1 Pintos, Guillem
A1 Peña-Quintana, Luis
A1 Hernandez, Tomas
A1 Gil, David
A1 Sanchez-Valverde, Felix
A1 Bueno, Maria
A1 Roca, Iria
A1 Lopez-Ruzafa, Encarna
A1 Diaz-Fernandez, Carmen
K1 Nephrocalcinosis
K1 Phenotype
K1 Severe liver dysfunction
K1 Tubulopathy
K1 Tyrosine
AB 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.
PB Wolters Kluwer Health
YR 2019
FD 2019-08-27
LK http://hdl.handle.net/10668/14573
UL http://hdl.handle.net/10668/14573
LA en
NO Couce ML, Sánchez-Pintos P, Aldámiz-Echevarría L, Vitoria I, Navas V, Martín-Hernández E, et al. Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain. Medicine (Baltimore). 2019 Sep;98(39):e17303
DS RISalud
RD Apr 11, 2025