RESUMO
The cloning of two major breast cancer susceptibility genes, BRCA1 and BRCA2, in 1994 and 1995 and the subsequent development of commercial genetic testing has brought hereditary cancer genetics into the public eye. In addition to DNA-based genetic testing, new strategies and treatments have been developed to provide accurate assessment of cancer risk and to reduce the chances of cancer developing in the future. This increasing scientific and public attention has prompted some cancer patients and their families to find out whether they "have the cancer gene" and has placed more responsibility on primary care clinicians to identify people who should be referred for specialized services of hereditary cancer genetics.
Assuntos
Predisposição Genética para Doença , Neoplasias/genética , Atenção Primária à Saúde , Polipose Adenomatosa do Colo/genética , Neoplasias da Mama/genética , Neoplasias Colorretais/genética , Feminino , Aconselhamento Genético , Testes Genéticos , Humanos , Neoplasias Ovarianas/genética , Medição de RiscoRESUMO
Fragile X syndrome is an X-linked disorder characterized primarily by speech delay and moderate mental retardation. The incidence of fragile X syndrome is estimated at 1/4000-1/6000 males and half that for females. This article presents a case study of fragile X syndrome, describing the genetics and inheritance, disease characteristics,natural history, diagnosis, differential diagnosis, and management.
Assuntos
Deficiências do Desenvolvimento/genética , Síndrome do Cromossomo X Frágil , Deficiência Intelectual/genética , Pré-Escolar , Deficiências do Desenvolvimento/diagnóstico , Feminino , Síndrome do Cromossomo X Frágil/diagnóstico , Síndrome do Cromossomo X Frágil/genética , Síndrome do Cromossomo X Frágil/terapia , Humanos , Deficiência Intelectual/diagnóstico , Masculino , Atenção Primária à SaúdeRESUMO
Marfan syndrome is a heritable disorder of connective tissue. This relatively common genetic condition affects approximately 2 to 3 per 10,000 individuals, without a particular gender, racial, geographic,or ethnic predilection. If unrecognized, patients with Marfan syndrome can have life-threatening cardiovascular complications. Identification and proper management of the disorder can improve the prognosis greatly, however, and extend the patient's life span. This article presents a case study of Marfan syndrome, describing disease characteristics and natural history, inheritance and genetics, diagnosis,differential diagnosis, and management.
Assuntos
Síndrome de Marfan , Anormalidades Múltiplas/diagnóstico , Adolescente , Diagnóstico Diferencial , Sopros Cardíacos/etiologia , Humanos , Masculino , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/genética , Síndrome de Marfan/terapia , Atenção Primária à Saúde , Encaminhamento e ConsultaRESUMO
One of the most common genetic causes of iron overload is hereditary hemochromatosis (HHC), a condition characterized by overabsorption of dietary iron from the gastrointestinal tract. This condition can lead to excessive iron accumulation with resulting dysfunction in multiple organs, including the liver, skin, heart,joints, pancreas, and testes. The clinical consequences of HHC if undetected and untreated can be severe and include liver cirrhosis,hepatocellular carcinoma, diabetes mellitus, cardiac arrhythmias and failure, arthritis, and hypogonadism. HHC is one of the most common heritable conditions in white populations of Northern European origin. This article presents a case study of HHC, describing inheritance and genetics, disease characteristics and natural history, diagnosis, differential diagnosis, and management.