据6月16日刊JAMA上的一则报告披露，在一项包括了对近2百万名出生在丹麦的孩子的研究中，研究人员发现，在双胞胎和兄弟姐妹中，幽门狭窄这种消化道疾病的发病率较高，表明这是一种基因性而且可遗传的疾病。
幽门狭窄是一种严重而且可能是致命的疾病，罹患该病的婴儿（年龄通常在2-8周之间）看起来是健康的，但他们会出现食物无法从胃通往十二指肠（它是小肠的一部分）的情况。目前，幽门狭窄是在出生头几个月中需要开刀的最常见的疾病。
Statens Serum Insti-tut, Copenhagen, Denmark的Camilla Krogh, M.D.及其同僚对在丹麦人群中罹患幽门狭窄的情况在从同卵双胞胎（即来自某单一的受精卵）到第四代血亲中的家族性聚合现象[即某一特定疾病在某患者的关系密切的亲属中要比对照的家族中有更多病例的情况]进行了检查。该基于人群的群组研究包括了在1977至2008年期间出生的199万9738名儿童，对他们的随访时间为出生后的第一年，在这一时期有3362名儿童接受了幽门狭窄的手术治疗。
文章的作者写道：“这一在全国范围内的研究证明，幽门狭窄有着很强的家族聚集性。在同卵双胞胎中，其发病率增加了近200倍，在兄弟姐妹中，其发病率增加了20倍。幽门狭窄的家族聚集性即使是在血缘关系较远的亲戚中也很显著。”
研究人员得出结论：“… 该病的可遗传性估计为87%，看来它的家族性聚集主要可被共有的基因所解释，而这些共有基因可能会影响对出生后因素的反应。在双胞胎和兄弟姐妹中的高发病率应该在对患儿家庭的咨询服务中给予考虑。”
生物谷推荐原文出处：
JAMA. 2010;303(23):2393-2399.
Familial Aggregation and Heritability of Pyloric Stenosis
Camilla Krogh, MD; Thea K. Fischer, DMSc; Line Skotte, MSc; Robert J. Biggar, MD; Nina ?yen, DMSc; Axel Skytthe, PhD; Sanne Goertz, MSc; Kaare Christensen, DMSc; Jan Wohlfahrt, DMSc; Mads Melbye, DMSc
Context Pyloric stenosis is the most common condition requiring surgery in the first months of life. Case reports have suggested familial aggregation, but to what extent this is caused by common environment or inheritance is unknown.
Objectives To investigate familial aggregation of pyloric stenosis from monozygotic twins to fourth-generation relatives according to sex and maternal and paternal contributions and to estimate disease heritability.
Design, Setting, and Patients Population-based cohort study of 1 999 738 children born in Denmark between 1977 and 2008 and followed up for the first year of life, during which 3362 children had surgery for pyloric stenosis.
Main Outcome Measure Familial aggregation of pyloric stenosis, evaluated by rate ratios.
Results The incidence rate (per 1000 person-years) of pyloric stenosis in the first year of life was 1.8 for singletons and 3.1 for twins. The rate ratios of pyloric stenosis were 182 (95% confidence interval [CI], 70.7-467) for monozygotic twins, 29.4 (95% CI, 9.45-91.5) for dizygotic twins, 18.5 (95% CI, 13.7-25.1) for siblings, 4.99 (95% CI, 2.59-9.65) for half-siblings, 3.06 (95% CI, 2.10-4.44) for cousins, and 1.60 (95% CI, 0.51-4.99) for half-cousins. We found no difference in rate ratios for maternal and paternal relatives of children with pyloric stenosis and no difference according to sex of cohort member or sex of relative. The heritability of pyloric stenosis was 87%.
Conclusion Pyloric stenosis in Danish children shows strong familial aggregation and heritability.
