Csizmadia C G, Mearin M L, Oren A, Kromhout A, Crusius J B, von Blomberg B M, Peña A S, Wiggers M N, Vandenbroucke J P
Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
J Pediatr. 2000 Dec;137(6):756-61. doi: 10.1067/mpd.2000.110421.
To investigate the best approach to screen for celiac disease (CD) in patients with Down syndrome (DS).
One hundred thirty-seven children with DS were followed up longitudinally. CD screening was offered in 1994, 1996, and 1999 by determination of serum immunoglobulin A-anti-endomysium antibodies (AEA). The HLA-DQA10501/DQB102 allelic combination known to be strongly positively associated with CD was typed. All IgA-AEA-positive children were given the opportunity to undergo a small bowel biopsy: if villous atrophy was found, the diagnosis of CD was established.
CD was diagnosed in 11 (8%) children: 8 in 1994 and 3 in 1996. All of them carried the HLA-DQ alleles associated with CD. The presence of symptoms was not useful in discriminating which children could have CD.
Screening once in a lifetime is not enough to detect CD in patients with DS. We propose a new, accurate, and cost-sparing 2-step strategy for screening, based on selection of the individuals with potential CD by HLA-DQ typing and on longitudinal serologic CD screening in this selected group.
研究唐氏综合征（DS）患者腹腔疾病（CD）的最佳筛查方法。
对137名患有DS的儿童进行纵向随访。在1994年、1996年和1999年通过测定血清免疫球蛋白A-抗肌内膜抗体（AEA）进行CD筛查。对已知与CD呈强正相关的HLA-DQA10501/DQB102等位基因组合进行分型。所有IgA-AEA阳性儿童都有机会接受小肠活检：如果发现绒毛萎缩，则确诊为CD。
11名（8%）儿童被诊断为CD：1994年8名，1%年3名。他们都携带与CD相关的HLA-DQ等位基因。症状的出现对于区分哪些儿童可能患有CD并无帮助。
对DS患者进行一生一次的筛查不足以检测出CD。我们基于通过HLA-DQ分型选择潜在CD个体并对该选定组进行纵向血清学CD筛查，提出一种新的、准确且节省成本的两步筛查策略。
