RESUMEN
Chronic granulomatous disease (CGD) is a rare, inherited congenital immunodeficiency disease, characterized by severe and recurrent infections at epithelial surfaces or in more vital organs such as the liver, lung or brain. There are two types of inheritance: X-linked recessive and autosomal recessive. The disease is caused by mutations of proteins, which compose the NADPH oxidase of phagocytes. The most common X-linked CGD type exhibits defect in CYBB encoding gp91phox. It rarely arise from intronic mutations within CYBB. This report describes identical twin patients with X-linked form CGD that showed mutations at intron 1.
Asunto(s)
Humanos , Encéfalo , Enfermedad Granulomatosa Crónica , Intrones , Hígado , Pulmón , NADPH Oxidasas , Fagocitos , Gemelos Monocigóticos , TestamentosRESUMEN
Chronic granulomatous disease (CGD) is a rare, inherited congenital immunodeficiency disease, characterized by severe and recurrent infections at epithelial surfaces or in more vital organs such as the liver, lung or brain. There are two types of inheritance: X-linked recessive and autosomal recessive. The disease is caused by mutations of proteins, which compose the NADPH oxidase of phagocytes. The most common X-linked CGD type exhibits defect in CYBB encoding gp91phox. It rarely arise from intronic mutations within CYBB. This report describes identical twin patients with X-linked form CGD that showed mutations at intron 1.
Asunto(s)
Humanos , Encéfalo , Enfermedad Granulomatosa Crónica , Intrones , Hígado , Pulmón , NADPH Oxidasas , Fagocitos , Gemelos Monocigóticos , TestamentosRESUMEN
Unilateral developmental deficiency of lung is rare. As the most of those, unilateral agenesis or Scimitar syndrome(hypogenetic lung syndrome) had been reported. We experienced that two cases of unilateral developmental deficiency of lung, which is different form each other, are found in identical twin. To our knowledge, this condition has not been reported before. We evaluated lung parenchyma and bronchus(; simple chest PA, chest CT(HRCT, 3DCT)), vasculatures(; pulmonary angiography and cardiac catheterization) and combined anomalies (;abdominal ultrasound, echocardiography, routine blood chemistry, and chromosomal study). This 31 yrs old twin female patient was confirmed as an unilateral agenesis of left upper lobe and hypoplasia of left lower lobe without combined anomalies. She's twin younger sister was confirmed as unilateral agenesis of right lung with atrial septal defect(ASD).
Asunto(s)
Femenino , Humanos , Angiografía , Química , Ecocardiografía , Pulmón , Hermanos , Tórax , Gemelos Monocigóticos , UltrasonografíaRESUMEN
Nonimmune hydrops fetals is defined as generalized edema of the fetal soft tissue in utero and may be associated with effusion in the serous cavities without hematologic evidence of isoimmunization. The most common demonstrable causes are cardiac anomalies, followed by chromosomal disorders, congenital malformations, alpha-thalassemia, and the twin-twin transfu-sion syndrome. We have experienced a case of nonimmune hydrops fetalis in identical twin which caused by congenital mitral valve insufficiency and disappeared spontaneously at 35 wks. Now we report a case of nonimmune hydrops fetalis that slowly and spontaneously imp-roved without interventions with a brief review of related literatures.
Asunto(s)
Humanos , Talasemia alfa , Trastornos de los Cromosomas , Edema , Hidropesía Fetal , Insuficiencia de la Válvula Mitral , Gemelos MonocigóticosRESUMEN
Intracranial aneurysms are usually regarded as congenital in origin but their etiology is unknown. The occurrence of familial aggregation of intracranial aneurysm is rare but well documented, and suggests a hereditary basis for some intracranial aneurysms. We experienced two cases of intracranial aneurysm in monozygotic twin brothers and reviewed literatures.
Asunto(s)
Humanos , Aneurisma Intracraneal , Hermanos , Gemelos MonocigóticosRESUMEN
Cerebral rete mirabile, as an entity of particular disease, have been reported by many authors with various discussion in opinion. But, until now, despite of good agreement of its angiographic opinions, its exact pathogenesis and etiology has not been established. Authors have been experienced a pair of cerebral rete mirabile in identical twin girls, which were confirmed by cerebral angiography.