Pichette V, Quérin S, Schürch W, Brun G, Lehner-Netsch G, Delâge J M
Department of Medicine, Hôtel-Dieu de Montréal, Faculty of Medicine, Université de Montréal, Canada.
Am J Kidney Dis. 1994 Dec;24(6):936-41. doi: 10.1016/s0272-6386(12)81065-1.
Inherited hemolytic-uremic syndrome (HUS) is unusual. We report the occurrence of HUS in two siblings; one died at an early age while the other (the proband) has presented with three episodes of HUS since the age of 19 years. The finding of a persistently low serum C3 level in this patient led to a thorough evaluation of her complement cascade and a family investigation. The proband and her asymptomatic younger sister were found to have very low serum levels (5% of normal) of factor H, a regulatory protein of the alternative complement pathway. Both patients had low levels of serum C3, factor B, CH50 and VAH50, reflecting persistent alternative pathway activation. The father and mother both had half-normal serum factor H levels but an otherwise normal complement profile. Other members of the extended pedigree were also found to have half-normal serum factor H levels. In conclusion, in this family, factor H deficiency appears to be associated with HUS and is transmitted as an autosomal recessive trait. Persistent C3 hypocomplementemia in the setting of familial and/or recurrent HUS should be a clue to a possible inherited complement deficiency.
遗传性溶血尿毒综合征（HUS）较为罕见。我们报告了两例兄弟姐妹患HUS的病例；其中一人早年死亡，另一人（先证者）自19岁起已出现三次HUS发作。该患者血清C3水平持续偏低，促使我们对其补体级联反应进行全面评估并开展家族调查。结果发现，先证者及其无症状的妹妹血清中替代补体途径的调节蛋白H因子水平极低（仅为正常水平的5%）。两名患者的血清C3、B因子、CH50和VAH50水平均较低，提示替代途径持续激活。父母的血清H因子水平均为正常水平的一半，但补体谱的其他方面正常。该大家族的其他成员血清H因子水平也为正常水平的一半。总之，在这个家族中，H因子缺乏似乎与HUS相关，并作为常染色体隐性性状遗传。在家族性和/或复发性HUS背景下出现的持续性C3低补体血症应提示可能存在遗传性补体缺乏。
