Publication:
Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.

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Date

2019-08-27

Authors

Couce, Maria Luz
Sanchez-Pintos, Paula
Aldamiz-Echevarria, Luis
Vitoria, Isidro
Navas, Victor
Martin-Hernandez, Elena
Garcia-Volpe, Camila
Pintos, Guillem
Peña-Quintana, Luis
Hernandez, Tomas

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Wolters Kluwer Health
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Abstract

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.

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Adult
Child
Cognitive Dysfunction
Cyclohexanones
Delayed Diagnosis
Enzyme Inhibitors
Female
Follow-Up Studies
Humans
Infant, Newborn
Kidney Diseases
Male
Needs Assessment
Neonatal Screening
Nitrobenzoates
Obesity
Prognosis
Quality of Life
Retrospective Studies
Spain
Time-to-Treatment
Tyrosinemias

DeCS Terms

Tirosina
Calidad de Vida
Obesidad
Progresión de la Enfermedad
Disfunción Cognitiva
Fallo Hepático Agudo

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Keywords

Nephrocalcinosis, Phenotype, Severe liver dysfunction, Tubulopathy, Tyrosine

Citation

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