Harvard Medical School, Boston, MA, USA; Division of Pediatric Surgery, Massachusetts General Hospital, Boston, MA, USA.
Division of Pediatric Surgery, Massachusetts General Hospital, Boston, MA, USA.
J Pediatr Surg. 2019 Jul;54(7):1351-1358. doi: 10.1016/j.jpedsurg.2018.05.019. Epub 2018 May 29.
Carmi syndrome is a rare genetic disorder characterized by junctional epidermolysis bullosa (JEB) and pyloric atresia (PA). We reviewed the clinicopathologic and molecular features of patients with Carmi syndrome to identify predictors of clinical outcome and guide surgical PA repair.
A PRISMA-compliant systematic literature review of PubMed, CINAHL, and the Cochrane Library was performed.
63 original studies including a total of 100 patients were included. PA type 1 and 2 were equally prevalent (47.2%, 95% CI: 34.4-60.3). Heineke-Mikulicz pyloroplasty (96%, 95% CI: 78.8-99) and gastroduodenostomy (72%, 95% CI: 52.2-85.9) were the most common type 1 and 2 PA repairs, respectively. Seventy lethal cases were identified (74.5%, 95% CI: 64.8-83.5). Of the 73 patients that received an operation, 49 died (67.1%, 95% CI: 55.7-76.8) and 24 survived (32.9%, 95% CI: 23.2-44.3). Integrin α6β4 expression was absent or markedly reduced in lethal cases. Integrin α6, plectin-1, cephalic integrin β4 (exon 3 to intron 11), and premature termination codon mutations were also associated with poor prognosis.
Although Carmi syndrome typically has poor prognosis, 1 in 4 patients exhibits nonlethal phenotypes. Immunofluorescence mapping and genetic consultation can guide surgical intervention and provide valuable family planning information.
EVIDENCE RATING/CLASSIFICATION: Prognosis study, Level IV.
Carmi 综合征是一种罕见的遗传疾病，其特征为交界性大疱性表皮松解症（JEB）和幽门闭锁（PA）。我们回顾了 Carmi 综合征患者的临床病理和分子特征，以确定预测临床结局的因素，并指导 PA 修复手术。
我们对 PubMed、CINAHL 和 Cochrane Library 进行了符合 PRISMA 标准的系统文献回顾。
共纳入 63 项原始研究，总计 100 例患者。PA 1 型和 2 型的患病率相等（47.2%，95%CI：34.4-60.3）。Heineke-Mikulicz 幽门成形术（96%，95%CI：78.8-99）和胃空肠吻合术（72%，95%CI：52.2-85.9）是最常见的 1 型和 2 型 PA 修复术。共发现 70 例致死病例（74.5%，95%CI：64.8-83.5）。在接受手术的 73 例患者中，49 例死亡（67.1%，95%CI：55.7-76.8），24 例存活（32.9%，95%CI：23.2-44.3）。致死病例中整合素 α6β4 表达缺失或明显减少。整合素 α6、plectin-1、头状整合素 β4（外显子 3 到内含子 11）和提前终止密码子突变也与预后不良相关。
尽管 Carmi 综合征通常预后较差，但有 1/4 的患者表现为非致死表型。免疫荧光定位和遗传咨询可以指导手术干预，并提供有价值的生育计划信息。
证据分级/分类：预后研究，IV 级。
