Bonamico M, Mariani P, Mazzilli M C, Triglione P, Lionetti P, Ferrante P, Picarelli A, Mesturino A, Gemme G, Imperato C
I. Cl. Pediatrica, Università La Sapienza, Roma, Italy.
J Pediatr Gastroenterol Nutr. 1996 Aug;23(2):159-63. doi: 10.1097/00005176-199608000-00011.
To investigate the prevalence and clinical and genetic patterns of celiac disease (CD) among siblings of CD patients, 103 siblings and one twin of 80 celiac children were evaluated by means of their clinical history, physical examination, blood indices of nutritional status, and antigliadin antibodies (AGA). Antiendomysium antibody (AEA) levels were determined in 70 patients and 85 subjects were human leucocyte antigen (HLA) typed. On the basis of clinical or laboratory data or both, 21 siblings (20.2%) were submitted to intestinal biopsy, whereas intestinal biopsy in six siblings with positive serologic screening (AGA IgA or AEA or both) was not performed because of parental refusal. In a high percentage of cases (18%), all on a gluten-containing diet, the intestinal mucosa was atrophic, and CD was subsequently diagnosed. Because we could not submit all the siblings to intestinal biopsy, this figure could underestimate the real prevalence of the disease in our series; consequently, it was not possible to calculate accurately the sensitivity and specificity of AGA and AEA. Nevertheless, AEA (positive in all the nine siblings with mucosal atrophy), followed by AGA IgA, proved to be the best screening for CD. Eighteen of 19 CD siblings showed HLA-predisposing antigens. Among the 19 CD siblings, one showed a typical form with gastrointestinal symptoms, two had short stature, one suffered from recurrent vomiting, and in 15, the disease was clinically silent. On the contrary, among siblings who were first diagnosed (index cases), the majority (73.7%) had a typical form of CD, and no clinically silent cases were observed. We did not find any difference between index cases and CD siblings in food habits and distribution of HLA antigens. In 15 of 18 cases, the sibling diagnosed subsequently was the older one. Finally, the typical form of CD was significantly more frequent among the younger brother than the older. In conclusion, the high prevalence of the silent form of CD in our cases indicates that siblings of CD subjects should always be screened for CD. The combination of AGA IgA and AEA represent a good screening method to use in selecting children for the intestinal biopsy.
为了调查乳糜泻（CD）患者的兄弟姐妹中乳糜泻的患病率以及临床和遗传模式，我们通过临床病史、体格检查、营养状况血液指标和抗麦胶蛋白抗体（AGA）对80名乳糜泻儿童的103名兄弟姐妹及1名双胞胎进行了评估。对70名患者测定了抗肌内膜抗体（AEA）水平，并对85名受试者进行了人类白细胞抗原（HLA）分型。根据临床或实验室数据或两者，21名兄弟姐妹（20.2%）接受了肠道活检，而6名血清学筛查呈阳性（AGA IgA或AEA或两者皆阳性）的兄弟姐妹因家长拒绝未进行肠道活检。在高比例（18%）的病例中，所有病例均采用含麸质饮食，肠道黏膜萎缩，随后被诊断为乳糜泻。由于我们无法让所有兄弟姐妹都接受肠道活检，该数字可能低估了我们研究系列中该疾病的实际患病率；因此，无法准确计算AGA和AEA的敏感性和特异性。尽管如此，AEA（在所有9名黏膜萎缩的兄弟姐妹中均呈阳性），其次是AGA IgA，被证明是乳糜泻的最佳筛查方法。19名乳糜泻兄弟姐妹中有18名显示出HLA易感抗原。在19名乳糜泻兄弟姐妹中，1名表现为典型的伴有胃肠道症状的形式，2名身材矮小，1名反复呕吐，15名临床上无症状。相反，在最初被诊断的兄弟姐妹（索引病例）中，大多数（73.7%）患有典型的乳糜泻形式，未观察到临床上无症状的病例。我们未发现索引病例和乳糜泻兄弟姐妹在饮食习惯和HLA抗原分布方面存在任何差异。在18例病例中的15例中，随后被诊断的兄弟姐妹是年龄较大的那个。最后，乳糜泻的典型形式在弟弟中比在哥哥中更为常见。总之，我们病例中无症状形式的乳糜泻患病率较高，这表明乳糜泻患者的兄弟姐妹应始终接受乳糜泻筛查。AGA IgA和AEA的联合使用是一种用于选择儿童进行肠道活检的良好筛查方法。
