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Alveolar capillary dysplasia : ウィキペディア英語版 | Alveolar capillary dysplasia
Alveolar capillary dysplasia (ACD, also congenital alveolar dysplasia) is a very rare congenital malformation involving abnormal development of the capillary vascular system around the alveoli of the lungs. It is a rare cause of persistent pulmonary hypertension in infants. It also may be a rare cause of pulmonary hypoplasia. Babies with ACD may appear normal at birth but within minutes or hours they develop respiratory distress with persistent pulmonary hypertension.〔 ACD does not respond to standard therapies that resolve simple pulmonary hypertension. The lack of response is an important diagnostic clue. ==Cause== Two broad types of genetic abnormality have been found to cause ACDMPV: (1) a mutation of the FOXF1 gene on chromosome 16, or (2) other genetic abnormalities such as deletions in areas of chromosome 16 that regulate the expression of the ''FOXF1'' gene. New genetic abnormalities are being found regularly, but at present around 80-90% of infants with confirmed ACDMPV can be found to have one of these abnormalities. The genetic abnormalities responsible for ACDMPV in the remaining 10-20% of cases are currently being investigated including testing for deletions farther away from the FOXF1 gene on chromosome 16 and whole exome testing.
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「Alveolar capillary dysplasia」の詳細全文を読む
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