Analysis Laboratory, G Di Cristina Children's Hospital, Palermo, Spain.
J Pediatr Gastroenterol Nutr. 2010 May;50(5):506-9. doi: 10.1097/MPG.0b013e3181bab30c.
Celiac disease (CD) is a common disease in the Saharawi population of Arab-Berber origin. Saharawi patients with CD and their families were invited to participate in a follow-up study aimed at checking the CD serology status in patients being treated with the gluten-free diet (GFD) and investigating the prevalence of CD in first-degree relatives.
We investigated 975 subjects (62.8% females and 37.2% males, age range 0.7 to 75.4 years, median age 13.4 years) belonging to 212 families, by determining the serum immunoglobulin A anti-transglutaminase and anti-endomysial antibody levels. Thirty-two first-degree relatives were already receiving GFD when tested.
Overall, 42.2% of the 244 treated subjects with CD showed a borderline/positive anti-transglutaminase determination, and 36.6% were also anti-endomysial positive. The serologic family screening detected 33 previously undiagnosed CD cases. The 65 affected first-degree relatives were sibling (42), mother (12), son/daughter (7), and father (4). The overall prevalence of CD among first-degree relatives was 65 of 763 (8.5%, 95% confidence interval 6.5-10.5). Based on our previous estimate of CD prevalence in the pediatric Saharawi population (5.6%), the sibling relative risk was 1.5.
The risk of CD in the Saharawis is only modestly increased in first-degree relatives compared with the general population, probably because of the higher frequency of CD predisposing genes in the general population. Saharawi patients with CD receiving GFD showed poor adherence to the treatment, which could contribute to residual CD-related morbidity and mortality.
乳糜泻(CD)是阿拉伯-柏柏尔血统的撒哈拉人群中的一种常见疾病。我们邀请撒哈拉地区的 CD 患者及其家属参加了一项随访研究,旨在检查接受无麸质饮食(GFD)治疗的患者的 CD 血清学状态,并调查一级亲属中 CD 的患病率。
我们调查了 212 个家庭的 975 名受试者(62.8%为女性,37.2%为男性;年龄 0.7 至 75.4 岁,中位数年龄为 13.4 岁),通过测定血清免疫球蛋白 A 抗转谷氨酰胺酶和抗内肌膜抗体水平来确定。在测试时,已有 32 名一级亲属正在接受 GFD。
总体而言,244 名接受 CD 治疗的患者中有 42.2%的患者抗转谷氨酰胺酶检测结果为临界/阳性,36.6%的患者也为抗内肌膜阳性。血清家族筛查发现了 33 例先前未确诊的 CD 病例。65 例受影响的一级亲属分别为兄弟姐妹(42 例)、母亲(12 例)、儿子/女儿(7 例)和父亲(4 例)。一级亲属中 CD 的总患病率为 763 名中的 65 名(8.5%,95%置信区间 6.5-10.5)。基于我们之前对撒哈拉儿童人群中 CD 患病率的估计(5.6%),同胞的相对风险为 1.5。
与一般人群相比,撒哈拉地区 CD 患者的一级亲属患 CD 的风险仅略有增加,这可能是由于一般人群中 CD 易感性基因的频率较高。接受 GFD 治疗的撒哈拉地区 CD 患者对治疗的依从性较差,这可能导致与 CD 相关的发病率和死亡率居高不下。