先天性腹壁裂的家族性复发：文献回顾及基于人群的出生登记“美因茨模型”的数据。
Familial recurrence of gastroschisis: literature review and data from the population-based birth registry "Mainz Model".
机构信息
Department of Pediatric Surgery, University Hospitals, Johannes Gutenberg University, 55101 Mainz, Germany.
出版信息
J Pediatr Surg. 2010 Sep;45(9):1907-12. doi: 10.1016/j.jpedsurg.2010.05.003.
BACKGROUND
Familial forms of gastroschisis are considered rare. A search for these forms in a population-based birth registry in 1993 found a recurrence risk of 3.5% among first-degree relatives. Since then, similar investigations in population-based registries have led to contradictory results.
METHODS
A search of the population-based birth registry "Mainz Model" for familial cases of gastroschisis and a systematic review of the literature were performed.
RESULTS
The Mainz Model database yielded 1 familial recurrence out of 27 gastroschisis cases. From the literature, 37 affected families could be retrieved. Among 412 gastroschises from population-based registries, 10 familial recurrences have been found. These translate into a recurrence risk of 2.4%, with a strong tendency toward underestimation.
CONCLUSION
The existing data support the hypothesis that familial recurrence of gastroschisis is much more likely than previously thought.
背景
家族性腹裂被认为较为罕见。在 1993 年一项基于人群的出生登记中对其进行检索，发现一级亲属中的复发风险为 3.5%。此后，基于人群的登记处进行了类似的调查，得出了相互矛盾的结果。
方法
对基于人群的出生登记“美因茨模型”中家族性腹裂病例进行检索，并对文献进行系统回顾。
结果
美因茨模型数据库中，27 例腹裂病例中出现 1 例家族性复发。从文献中可以检索到 37 个受影响的家族。在基于人群的登记处的 412 例腹裂中，发现了 10 例家族性复发。这意味着复发风险为 2.4%，且存在明显的低估倾向。
结论
现有数据支持家族性腹裂复发的可能性远高于此前认为的假设。
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