Publication: Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.
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Identifiers
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
Advisors
Journal Title
Journal ISSN
Volume Title
Publisher
Wolters Kluwer Health
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.
Description
MeSH Terms
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
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
Calidad de Vida
Obesidad
Progresión de la Enfermedad
Disfunción Cognitiva
Fallo Hepático Agudo
CIE Terms
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