Qari A, Al-Mayouf S, Al-Owain M
Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Genet Couns. 2009;20(3):215-23.
Systemic lupus erythematosus (SLE) is a an autoimmune disease causing inflammation and injury of multiple organs like joints, skin, kidneys, eyes, central nervous system, heart. The etiology of SLE remains unknown. However; genetic component significantly contributes to the etiology of SLE. Familial SLE patients were defined as a family with more than one sibling diagnosed with SLE. The objective of the study is to describe the clinical features of the familial SLE and analyze the family pedigrees. Twenty-five individuals with SLE belonging to seven Saudi families were included. Three-generation pedigree was taken from the candidate families. The mean age at onset of the disease was 84.5 months (range: 18-144) while the mean age at diagnosis was 90.6 months (range: 24-144) and the mean duration of follow up was 48.5 months (range: 7-108). The proportion of girls was predominant (78%). Malar rash, arthritis and nephritis were the more frequent features. Sixteen patients had renal lesions, 10 of them had class VI nephritis according WHO classification. Five of the seven families are consanguineous reflecting the high percentage of consanguinity in our population. As many other autoimmune diseases, multifactorial is the most common form of inheritance. In the current study, the suggested mode of inheritance is autosomal recessive assuming Mendelian inheritance of single gene disorder.
系统性红斑狼疮（SLE）是一种自身免疫性疾病，可导致关节、皮肤、肾脏、眼睛、中枢神经系统、心脏等多个器官发生炎症和损伤。SLE的病因尚不清楚。然而，遗传因素在SLE的病因中起着重要作用。家族性SLE患者被定义为有不止一个兄弟姐妹被诊断为SLE的家庭。本研究的目的是描述家族性SLE的临床特征并分析家族谱系。纳入了来自七个沙特家庭的25名SLE患者。从候选家庭获取了三代谱系。疾病发病的平均年龄为84.5个月（范围：18 - 144个月），诊断时的平均年龄为90.6个月（范围：24 - 144个月），平均随访时间为48.5个月（范围：7 - 108个月）。女孩的比例占主导（78%）。颧部红斑、关节炎和肾炎是较常见的特征。16例患者有肾脏病变，其中10例根据世界卫生组织分类为VI级肾炎。七个家庭中有五个是近亲结婚，这反映了我们人群中近亲结婚的高比例。与许多其他自身免疫性疾病一样，多因素是最常见的遗传形式。在本研究中，假设单基因疾病的孟德尔遗传，建议的遗传方式为常染色体隐性遗传。
