據(jù)6月16日刊JAMA上的一則報(bào)告披露,，在一項(xiàng)包括了對近2百萬名出生在丹麥的孩子的研究中，研究人員發(fā)現(xiàn),，在雙胞胎和兄弟姐妹中,，幽門狹窄這種消化道疾病的發(fā)病率較高，表明這是一種基因性而且可遺傳的疾病,。
幽門狹窄是一種嚴(yán)重而且可能是致命的疾病,，罹患該病的嬰兒（年齡通常在2-8周之間）看起來是健康的,，但他們會(huì)出現(xiàn)食物無法從胃通往十二指腸（它是小腸的一部分）的情況。目前,，幽門狹窄是在出生頭幾個(gè)月中需要開刀的最常見的疾病,。
Statens Serum Insti-tut, Copenhagen, Denmark的Camilla Krogh, M.D.及其同僚對在丹麥人群中罹患幽門狹窄的情況在從同卵雙胞胎（即來自某單一的受精卵）到第四代血親中的家族性聚合現(xiàn)象[即某一特定疾病在某患者的關(guān)系密切的親屬中要比對照的家族中有更多病例的情況]進(jìn)行了檢查。該基于人群的群組研究包括了在1977至2008年期間出生的199萬9738名兒童,，對他們的隨訪時(shí)間為出生后的第一年,，在這一時(shí)期有3362名兒童接受了幽門狹窄的手術(shù)治療,。
文章的作者寫道：“這一在全國范圍內(nèi)的研究證明,，幽門狹窄有著很強(qiáng)的家族聚集性。在同卵雙胞胎中,，其發(fā)病率增加了近200倍,，在兄弟姐妹中，其發(fā)病率增加了20倍,。幽門狹窄的家族聚集性即使是在血緣關(guān)系較遠(yuǎn)的親戚中也很顯著,。”
研究人員得出結(jié)論：“… 該病的可遺傳性估計(jì)為87%，看來它的家族性聚集主要可被共有的基因所解釋,，而這些共有基因可能會(huì)影響對出生后因素的反應(yīng),。在雙胞胎和兄弟姐妹中的高發(fā)病率應(yīng)該在對患兒家庭的咨詢服務(wù)中給予考慮。”(生物谷Bioon.net)
生物谷推薦原文出處：
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.
