Association Between Graves’ Disease and Renal Coloboma Syndrome: A Case Report

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 mutat...

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Detalles Bibliográficos
Autores principales: Sato, Takeshi, Muroya, Koji, Hanakawa, Junko, Asakura, Yumi, Takahashi, Eihiko, Shiroyanagi, Yoshiyuki, Yamazaki, Yuichiro, Tanaka, Yukichi, Hasegawa, Tomonobu, Adachi, Masanori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3748283/
https://www.ncbi.nlm.nih.gov/pubmed/23966757
http://dx.doi.org/10.1297/cpe.22.45
Descripción
Sumario: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.

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