RESUMO
BACKGROUND: Hereditary hemochromatosis, a common autosomal recessive trait caused by mutations in the HLA-H gene, is often diagnosed by the pathologist at the time of histologic examination. Unfortunately, histologic parameters alone do not differentiate between hereditary hemochromatosis and other causes of iron overload. We performed a retrospective study to determine the frequency of familial hemochromatosis in patients diagnosed with he mochromatosis by abnormal liver histology. METHODS AND RESULTS: DNA was isolated from paraffin-embedded tissue sections from 15 patients and used in a polymerase chain reaction-based assay in which we tested for the C282Y and H63D mutations. We found that in this group of patients, 5 (33%) were homozygous for the common C282Y genetic mutation, 3 (20%) were heterozygous, and 7 (47%) were normal. CONCLUSIONS: Our study shows that the molecular assay is the gold standard for the diagnosis of hereditary hemochromatosis. The case study also illustrates that a definitive diagnosis of familial hemochromatosis has significant counseling implications allowing for accurate family studies.
Assuntos
Biópsia , Análise Mutacional de DNA , Hemocromatose/diagnóstico , Hemocromatose/genética , Hepatopatias/genética , Adulto , Idoso , Diagnóstico Diferencial , Eletroforese em Gel de Poliacrilamida , Feminino , Hemocromatose/patologia , Heterozigoto , Homozigoto , Humanos , Hepatopatias/patologia , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Reação em Cadeia da PolimeraseAssuntos
Política de Saúde/legislação & jurisprudência , Hospitais Públicos/economia , Transferência de Pacientes/legislação & jurisprudência , Serviço Hospitalar de Emergência/normas , Hospitais com mais de 500 Leitos , Indigência Médica , Avaliação de Processos e Resultados em Cuidados de Saúde , Formulação de Políticas , TexasRESUMO
Radionuclide bone imaging in pediatric patients occasionally shows a focus of distinct localized increase of radiotracer uptake at the ischiopubic synchondrosis. Correlation of radionuclide bone images and conventional radiographs of this area in a group of pediatric patients demonstrates the positive bone scans to correlate with the period of beginning but incomplete fusion of the synchondrosis. This represents a normal phase of skeletal development that radiographically and scintigraphically may mimic disease and should not be confused with a focus of pathologic activity.