Congenital Diaphragmatic Hernia
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- 作者：Juan A Tovar (1)
- 关键词：Congenital ; Diaphragm ; Hernia ; Retinoids ; Lung ; Hypoplasia ; Pulmonary ; Hypertension ; Surgery ; Fetoscopy
- 刊名：Orphanet Journal of Rare Diseases
- 出版年：2012
- 出版时间：December 2012
- 年：2012
- 卷：7
- 期：1
- 全文大小：549KB
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1. Department of Pediatric Surgery, Hospital Universitario La Paz, Professor of Pediatrics, Universidad Autonoma de Madrid, Director, Madrid, Spain
文摘
Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is < 5 in 10,000 live-births. The etiology is unknown although clinical, genetic and experimental evidence points to disturbances in the retinoid-signaling pathway during organogenesis. Antenatal diagnosis is often made and this allows prenatal management (open correction of the hernia in the past and reversible fetoscopic tracheal obstruction nowadays) that may be indicated in cases with severe lung hypoplasia and grim prognosis. Treatment after birth requires all the refinements of critical care including extracorporeal membrane oxygenation prior to surgical correction. The best hospital series report 80% survival but it remains around 50% in population-based studies. Chronic respiratory tract disease, neurodevelopmental problems, neurosensorial hearing loss and gastroesophageal reflux are common problems in survivors. Much more research on several aspects of this severe condition is warranted.