格雷夫斯病与肾裂（缺损）综合征之间的关联：一例病例报告。
Association between graves' disease and renal coloboma syndrome: a case report.
作者信息
Sato Takeshi, Muroya Koji, Hanakawa Junko, Asakura Yumi, Takahashi Eihiko, Shiroyanagi Yoshiyuki, Yamazaki Yuichiro, Tanaka Yukichi, Hasegawa Tomonobu, Adachi Masanori
机构信息
Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Kanagawa, Japan ; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
出版信息
Clin Pediatr Endocrinol. 2013 Jul;22(3):45-51. doi: 10.1292/cpe.22.45. Epub 2013 Aug 1.
Renal coloboma syndrome is an autosomal dominant condition characterized by renal lesions and optic nerve abnormalities. We report an 11-yr-old Japanese girl with familial renal coloboma syndrome, who also had Graves' disease. Four affected family members had a previously reported heterozygous mutation (c.76dupG, p.Val26Glyfs*28) in the PAX2 gene. We hypothesized that PAX2 mutations may increase the risk of autoimmune diseases through alterations of human β-defensin 1 expression.
肾裂综合征是一种常染色体显性疾病，其特征为肾脏病变和视神经异常。我们报告了一名患有家族性肾裂综合征的11岁日本女孩，她还患有格雷夫斯病。四名受影响的家庭成员在PAX2基因中存在先前报道的杂合突变（c.76dupG，p.Val26Glyfs*28）。我们推测，PAX2突变可能通过改变人β-防御素1的表达增加自身免疫性疾病的风险。
Zotero 插件