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Association between graves' disease and renal coloboma syndrome: a case report.

ABSTRACT: 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 ?-defensin 1 expression.

SUBMITTER: Sato T

PROVIDER: S-EPMC3748283 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature

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Association between graves' disease and renal coloboma syndrome: a case report.

Sato Takeshi T Muroya Koji K Hanakawa Junko J Asakura Yumi Y Takahashi Eihiko E Shiroyanagi Yoshiyuki Y Yamazaki Yuichiro Y Tanaka Yukichi Y Hasegawa Tomonobu T Adachi Masanori M

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 20130701 3

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. ...[more]

PMID: 23966757

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