MARTA MITIKO DEGUTI
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
5 resultados
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- Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene(2013) BEM, Ricardo Schmitt de; RASKIN, Salmo; MUZZILLO, Dominique Araujo; DEGUTI, Marta Mitiko; CANCADO, Eduardo Luiz Rachid; ARAUJO, Thiago Ferreira; NAKHLE, Maria Cristina; BARBOSA, Egberto Reis; MUNHOZ, Renato Puppi; TEIVE, Helio Afonso GhizoniObjective: Wilson's disease (WD) is an inborn error of metabolism caused by abnormalities of the copper-transporting protein encoding gene ATP7B. In this study, we examined ATP7B for mutations in a group of patients living in southern Brazil. Methods: 36 WD subjects were studied and classified according to their clinical and epidemiological data. In 23 subjects the ATP7B gene was analyzed. Results: Fourteen distinct mutations were detected in at least one of the alleles. The c.3207C>A substitution at exon 14 was the most common mutation (allelic frequency=37.1%) followed by the c.3402delC at exon 15 (allelic frequency=11.4%). The mutations c.2018-2030del13 at exon 7 and c.4093InsT at exon 20 are being reported for the first time. Conclusion: The c.3207C>A substitution at exon 14, was the most common mutation, with an allelic frequency of 37.1%. This mutation is the most common mutation described in Europe.
bookPart Doenças Hepáticas Metabólicas(2016) EVANGELISTA, Andréia Silva; DEGUTI, Marta Mitiko; CANçADO, Eduardo Luiz RachidconferenceObject Hepatocellular carcinoma in patients with autoimmune hepatitis: prevalence and risk factors(2020) VAZ, Nayana Fonseca; MARGON, Julia Fadini; MOUTINHO, Bruna Damasio; BRAGA, Michele Harriz; TANI, Claudia Megumi; ALENCAR, Regiane Saraiva de Souza Melo; SAUD, Lisa Rodrigues da Cunha; VEZOZZO, Denise Cerqueira Paranagua; DEGUTI, Marta; HORVAT, Natally; CANCADO, Eduardo Luiz Rachid; CARRILHO, Flair Jose; CHAGAS, Aline Lopes; TERRABUIO, Debora- Urinary copper excretion before and after oral intake of D-penicillamine in parents of patients with Wilson's disease(2012) VIEIRA, Jakeliny; OLIVEIRA, Pedro Vitoriano; JULIANO, Vara; WARDE, Karim Repsold Jorge; DEGUTI, Marta Mitiko; BARBOSA, Egberto Reis; CARRILHO, Flair Jose; CANCADO, Eduardo Luiz RachidBackground: Urinary copper excretion higher than 100 mu g/24 h is useful for diagnosing Wilson's disease. D-Penicillamine challenge test may produce higher levels than 1400 mu g/24 h, allowing for better diagnostic accuracy. This study investigated whether heterozygotes reach this value and compared copper serum levels, ceruloplasmin, and urinary copper excretion before and after administering D-penicillamine to the parents of Wilson's disease patients. Methods: Fifty parents of adult patients were enrolled to obtain copper serum levels and ceruloplasmin along with 24-h urinary copper excretion before and after administering 1 g D-penicillamine. Results: Serum ceruloplasmin and copper levels were significantly lower in fathers than in mothers (mean 21.8 x 27.8 mg%; 71.4 x 88.0 mu g%; p <= 0.001). The mean of basal 24-h urinary copper excretion was higher in fathers (26.2 x 18.7 mu g/24 h, p = 0.01), but did not differ between the genders after D-penicillamine (521.7 x 525.3, range 31.6-1085.1 mu g/24 h, p = 0.8). Conclusions: The mean values of serum copper, ceruloplasmin, and basal urinary copper excretion were different between males and females. The current diagnostic threshold of 24-h urinary copper excretion after D-penicillamine was not reached by heterozygotes. The increased urinary copper excretion after D-penicillamine challenge was much higher than fivefold the upper limit of normal urinary copper excretion in the majority of heterozygotes and should not be taken into account when diagnosing Wilson's disease.
- Wilson's disease in southern Brazil: a 40-year follow-up study(2011) BEM, Ricardo Schmitt de; MUZZILLO, Dominique Araujo; DEGUTI, Marta Mitiko; BARBOSA, Egberto Reis; WERNECK, Lineu Cesar; TEIVE, Helio Afonso GhizoniBACKGROUND: Long-term data on the clinical follow-up and the treatment effectiveness of Wilson's disease are limited because of the low disease frequency. This study evaluated a retrospective cohort of Wilson's disease patients from southern Brazil during a 40-year follow-up period. METHODS: Thirty-six Wilson's disease patients, diagnosed from 1971 to 2010, were retrospectively evaluated according to their clinical presentation, epidemiological and social features, response to therapy and outcome. RESULTS: Examining the patients' continental origins showed that 74.5% had a European ancestor. The mean age at the initial symptom presentation was 23.3 +/- 9.3 years, with a delay of 27.5 +/- 41.9 months until definitive diagnosis. At presentation, hepatic symptoms were predominant (38.9%), followed by mixed symptoms (hepatic and neuropsychiatric) (30.6%) and neuropsychiatric symptoms (25%). Kayser-Fleischer rings were identified in 55.6% of patients, with a higher frequency among those patients with neuropsychiatric symptoms (77.8%). Eighteen patients developed neuropsychiatric features, most commonly cerebellar syndrome. Neuroradiological imaging abnormalities were observed in 72.2% of these patients. Chronic liver disease was detected in 68% of the patients with hepatic symptoms. 94.2% of all the patients were treated with D-penicillamine for a mean time of 129.9 +/- 108.3 months. Other treatments included zinc salts, combined therapy and liver transplantation. After initiating therapy, 78.8% of the patients had a stable or improved outcome, and the overall survival rate was 90.1%. CONCLUSION: This study is the first retrospective description of a population of Wilson's disease patients of mainly European continental origin who live in southern Brazil. Wilson's disease is treatable if correctly diagnosed, and an adequate quality of life can be achieved, resulting in a long overall survival.