Seashore J H, Collins F S, Markowitz R I, Seashore M R
Department of Surgery, Yale University School of Medicine, New Haven, Connecticut.
Pediatrics. 1987 Oct;80(4):540-4.
Fifty-seven cases of apple peel jejunal atresia have been reported in the English literature. Patients with this anomaly have a high incidence of prematurity (70%), malrotation (54%), short gut syndrome (74%), multiple atresias (15%), complications (63%), and mortality (54%). Mortality has decreased from 63% to 47% since 1970. We report three new cases of apple peel jejunal atresia, including two from one family. Radiographic evidence of high small bowel obstruction and a malrotated microcolon on preoperative roentgenogram with barium enema should suggest this diagnosis. Five families, including ours, have been reported in which more than one child was affected, and it has been suggested that this disorder is transmitted by an autosomal recessive gene. However, the occurrence of conventional intestinal atresia in other siblings, the association with multiple atresias, and discordance in a set of apparently monozygotic twins indicate that there may be a more complex spectrum of genetic transmission. Subsequent siblings are at increased risk for apple peel atresia or related malformations. Prenatal ultrasound can facilitate early diagnosis and treatment.
英文文献中已报道了57例苹果皮样空肠闭锁病例。患有这种异常的患者早产发生率高（70%）、肠旋转不良发生率高（54%）、短肠综合征发生率高（74%）、多发闭锁发生率高（15%）、并发症发生率高（63%）以及死亡率高（54%）。自1970年以来，死亡率已从63%降至47%。我们报告了3例新的苹果皮样空肠闭锁病例，其中2例来自同一个家庭。术前钡剂灌肠X线片显示高位小肠梗阻和旋转不良的小结肠的影像学证据应提示该诊断。包括我们家在内，已有5个家庭被报道有不止一个孩子患病，有人提出这种疾病是由常染色体隐性基因传递的。然而，其他兄弟姐妹出现传统型肠闭锁、与多发闭锁的关联以及一组明显的单卵双胞胎之间的不一致表明，可能存在更复杂的遗传传递谱系。后续的兄弟姐妹患苹果皮样闭锁或相关畸形的风险增加。产前超声有助于早期诊断和治疗。
