Association between Graves' disease and renal coloboma syndrome: A case report

Takeshi Sato, Koji Muroya, Junko Hanakawa, Yumi Asakura, Eihiko Takahashi, Yoshiyuki Shiroyanagi, Yuichiro Yamazaki, Yukichi Tanaka, Tomonobu Hasegawa, Masanori Adachi

研究成果: Article査読

2 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)45-51
ページ数7
ジャーナルclinical pediatric endocrinology
22
3
DOI
出版ステータスPublished - 2013

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康
  • 内分泌学、糖尿病および代謝内科学
  • 内分泌学

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