Noonan综合征(NS)是一种显性遗传遗传性疾病,在RAS/丝裂原激活的蛋白激酶途径的编码成分或调节因子的基因中具有突变。它的诊断是基于特征,包括典型的面部特征,身材矮小,先天性心脏病,轻度发育迟缓,和隐睾。NS患者有时会发展自身免疫性疾病,如桥本甲状腺炎和,很少,系统性红斑狼疮(SLE)。我们在此介绍了一名29岁的日本女性,患有NS并发SLE并反复出现严重的低血糖。患者根据血小板减少症诊断为SLE,肾炎,抗核抗体滴度阳性(1:640),和阳性抗dsDNA抗体。患者接受了糖皮质激素治疗,霉酚酸酯,还有他克莫司,减轻SLE和低血糖。由于胰岛素受体抗体水平高于正常上限,治疗后下降,低血糖可能归因于B型胰岛素抵抗综合征(TBIRS).我们在此介绍第一例由TBIRS并发的NSSLE。虽然NS是一种罕见的疾病,我们需要考虑自身免疫性疾病的并发症,包括SLE。
Noonan syndrome (NS) is a dominantly inherited genetic disorder with mutations in genes encoding components or regulators of the Rat sarcoma virus/mitogen-activated protein kinase pathway. Its diagnosis is based on characteristic features, including typical facial features, a short stature, congenital heart disease, mild developmental delay, and cryptorchidism. Patients with NS sometimes develop autoimmune diseases, such as Hashimoto\'s thyroiditis and, rarely, systemic lupus erythematosus (SLE). We herein present a 29-year-old Japanese female with NS complicated by SLE and repeated severe
hypoglycaemia. The patient was diagnosed with SLE based on thrombocytopenia, nephritis, a positive antinuclear antibody titre (1:640), and a positive anti-dsDNA antibody. The patient was treated with a glucocorticoid, mycophenolate mofetil, and tacrolimus, which attenuated both SLE and
hypoglycaemia. Since insulin receptor antibody levels were higher to the upper normal range and decreased after treatment,
hypoglycaemia probably appeared to be attributed to type B insulin resistance syndrome. We herein present the first
case of SLE in NS complicated by type B insulin resistance syndrome. Although NS is a rare disease, we need to consider the complication of autoimmune diseases, including SLE.