Aberrant glycosylation of IgA1 is inherited in both pediatric IgA nephropathy and Henoch-Schönlein purpura nephritis.
Aberrant glycosylation of IgA1 is inherited in both pediatric IgA nephropathy and Henoch-Schönlein purpura nephritis.
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DOI：
10.1038/ki.2011.16
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发表时间：
2011-07
影响因子：
19.6
通讯作者：
中科院分区：
文献类型：
--
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血清半乳糖缺陷型IgA1(Gd-IgA1)是成人IgA肾病(IgAN)的遗传危险因素。本研究的目的是确定IgAN和过敏性肾小球肾炎(HSPN)患儿血清Gd-IgA1水平的遗传度。为此，我们从34个高加索家庭(20个儿童HSPN病例，14个儿童IgAN病例，54个他们的一级亲属)以及51个年龄和种族匹配的儿童对照和141个健康成人对照中获得血清。血清Gd-IgA1水平用基于HAA-凝集素的ELISA法进行定量。IgAN和HSPN患儿血清Gd-Ig A1水平显著高于儿童对照组(p=1.7×10−7和p=6.5×10−9)。儿童IgA肾病和过敏性肾炎患者的一级亲属血清Gd-Ig A_1水平也明显高于正常对照(p=3.2×10−6和p=5.1×10−4)。75%的家系观察到该性状为单线遗传，5%为双线遗传，20%为零星发生。儿童IgA肾病患者血清Gd-Ig A1水平经年龄、性别和家庭调整后的遗传度估计为76%(p=0.021)，而在过敏性肾炎患者中为%(p=0.018)。我们的数据表明，血清Gd-IgA1水平在儿童IgAN和HSPN中高度遗传，为这些疾病之间的另一个共同致病联系提供了支持。
Serum galactose-deficient IgA1 (Gd-IgA1) is an inherited risk factor for adult IgA nephropathy (IgAN). The goal of this study is to determine the heritability of serum Gd-IgA1 levels in children with IgAN and Henoch-Schönlein nephritis (HSPN). For this purpose, we obtained serum from 34 Caucasian families (20 pediatric cases of HSPN, 14 pediatric cases of IgAN, and 54 of their first-degree relatives), as well as from 51 age- and ethnicity-matched pediatric controls and 141 healthy adult controls. Serum Gd-IgA1 levels were quantified using an HAA-lectin-based ELISA. Children with either IgAN or HSPN had significantly higher Gd-IgA1 levels compared with pediatric controls (p = 1.7 × 10−7 and p = 6.5 × 10−9, respectively). Serum levels of Gd-IgA1 were also elevated in a large fraction of the first-degree relatives of pediatric IgAN and HSPN patients compared with unrelated adult controls (p = 3.2 × 10−6 and p = 5.1 × 10−4, respectively). The unilineal transmission of the trait was observed for 75% of families, bilineal transmission in 5%, and sporadic occurrence in 20%. The age-, gender-, and household-adjusted heritability of serum Gd-IgA1 level was estimated at 76% (p = 0.021) in pediatric IgAN patients and at 64% (p = 0.018) in HSPN patients. Our data demonstrate that serum Gd-IgA1 levels are highly inherited in pediatric IgAN and HSPN, providing support for yet another shared pathogenic link between these disorders.
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