RESUMO
BACKGROUND AND AIM: Wilson's disease (WD) is a rare autosomal recessive disease. More than 500 mutations have been described so far, out of which 29 in exon 14. H1069Q mutation in the exon 14 of ATP7B gene is the most frequently encountered in Europe. The aim of the present study was to evaluate the incidence of mutations occurring in exon 14 of ATP7B gene in Romanian patients referred to a tertiary gastroenterology center, with known or suspected WD and in asymptomatic first degree relatives of index cases. METHODS: 93 patients were included in the study. Exon 14 of ATP7B gene has been amplified by PCR from genomic DNA and mutations identified by sequencing. RESULTS: Only H1069Q missense mutation was detected in our study group. In patients with an established diagnosis of WD (38 cases), 34.2% were heterozygous for H1069Q and 21.1% were homozygous, with an allelic frequency of 38.1%. In paediatric WD patients (12 cases) 25% were heterozygous and 16.7% were homozygous (not significant versus adult population). Among asymptomatic first degree relatives of patients with WD (12 siblings, 25 parents) there were 40.5% cases heterozygous for H1069Q. In patients with suspected WD (17 cases), only 5.9% were heterozygous and no homozygous patient was identified. In our study group, H1069Q screening alone could not raise the Leipzig score to confirm diagnosis in patients with suspected WD or in asymptomatic first degree relatives. CONCLUSION: H1069Q mutation is highly prevalent in Romanian WD patients and first degree relatives, similar to other central and continental western European populations.
Assuntos
Adenosina Trifosfatases/genética , Proteínas de Transporte de Cátions/genética , Degeneração Hepatolenticular/genética , Mutação de Sentido Incorreto , Adolescente , Adulto , ATPases Transportadoras de Cobre , Análise Mutacional de DNA/métodos , Feminino , Frequência do Gene , Predisposição Genética para Doença , Testes Genéticos/métodos , Degeneração Hepatolenticular/diagnóstico , Heterozigoto , Homozigoto , Humanos , Masculino , Adulto JovemRESUMO
BACKGROUND & AIMS: Malnutrition is variably encountered in adult patients with Crohn's disease. We evaluated the nutritional status at the beginning and during Infliximab treatment in patients with Crohn's disease. METHODS: Patients with moderate/severe flares of disease treated with Infliximab for induction and maintenance of remission were included in a prospective observational study. Body Mass Index and Nutritional Risk Index were calculated in each patient at 0, 6 weeks and than every 8 weeks for one year. RESULTS: From 30 patients treated with Infliximab 59.3% had low BMI, 35.7% being undernourished. The severity of Crohn's disease did not correlate with low BMI but did correlate with Nutritional Risk Index (p = 0.001). In all patients that responded to Infliximab treatment progressive weight gain was observed, all but one patient reaching normal BMI after one year. Mean weight gain was significantly more elevated (p = 0.001) and time needed to reach normal BMI was longer in the undernutrition group (p = 0.01). Clinical remission was the principal factor associated with weight gain (p = 0.001), while there was no influence of endoscopic remission on nutritional status. CONCLUSIONS: In patients with moderate/severe forms of Crohn's disease malnutrition is frequently encountered. Induction and maintenance treatment with Infliximab determines weight gain and corrects malnutrition in all patients with clinical remission.
