Background: Idiopathic pulmonary hemosiderosis (IPH) is a rare disorder of unknown etiology characterized by chronic pulmonary hemorrhage and presents with a triad of anemia, hemoptysis and pulmonary infiltrates. IPH is a diagnosis of exclusion with a variable and disparate clinical course. Despite existing therapies, few children achieve full remission while others have recurrent hemorrhage, progressive lung damage, and premature death.
View Article and Find Full Text PDFObjective: To determine the genotype of a triplet resulted from an IVF procedure, with discordant cystic fibrosis (CF) phenotype.
Design: Molecular diagnosis of CF.
Setting: Affected triplet followed at the CF Clinic Center of Children's Hospital Los Angeles was referred to Molecular Genetics Laboratory at Georgetown University Medical Center for comprehensive DNA analysis of the cystic fibrosis transmembrane regulator (CFTR) gene.
Hemoptysis can be caused by either pulmonary or extrapulmonary causes. Congenital heart disease should be considered as a possible cause in patients who have no obvious evidence of pulmonary disease. We report on an 8-year-old girl who presented with recurrent hemoptysis without other cardiopulmonary signs, except for mild tachypnea and a prominent pulmonic component of the second heart sound, suggesting pulmonary hypertension.
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