Lasseur C, Allen A C, Deminière C, Aparicio M, Feehally J, Combe C
Department of Nephrology, Hôpital Saint-André, Bordeaux, France.
Am J Kidney Dis. 1997 Feb;29(2):285-7. doi: 10.1016/s0272-6386(97)90043-3.
Abnormalities of immunoglobulin A1 (IgA1) glycosylation have been described in patients with IgA nephropathy (IgAN), whether primitive or secondary to Henoch-Schönlein purpura. The Wiskott-Aldrich syndrome, an X-linked recessive disorder, is associated with abnormalities of IgA. Renal involvement with mesangial IgA deposition identical to that found in IgAN has been reported during this affection. We report the case of a female carrier of the Wiskott-Aldrich syndrome presenting with Henoch-Schönlein purpura and abnormalities of IgA glycosylation, as previously reported in patients with IgAN. The galactosylation abnormalities of IgA could be linked to the patient's status as carrier of the Wiskott-Aldrich syndrome and could contribute to the pathogenesis of IgAN.
免疫球蛋白A1(IgA1)糖基化异常在IgA肾病(IgAN)患者中已有报道,无论其为原发性还是继发于过敏性紫癜。威斯科特-奥尔德里奇综合征是一种X连锁隐性疾病,与IgA异常有关。在这种疾病中,曾有肾系膜IgA沉积的肾脏受累情况的报道,其与IgAN中发现的情况相同。我们报告了一例威斯科特-奥尔德里奇综合征女性携带者的病例,该患者表现为过敏性紫癜和IgA糖基化异常,这与先前报道的IgAN患者情况相同。IgA的半乳糖基化异常可能与该患者作为威斯科特-奥尔德里奇综合征携带者的状态有关,并可能有助于IgAN的发病机制。