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

doi:10.1297/cpe.22.45

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

Department of Pediatrics

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

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 β-defensin 1 expression.

Original language	English
Pages (from-to)	45-51
Number of pages	7
Journal	clinical pediatric endocrinology
Volume	22
Issue number	3
DOIs	https://doi.org/10.1297/cpe.22.45
Publication status	Published - 2013

Keywords

Graves' disease
Mutation
PAX2
Renal coloboma syndrome

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Endocrinology, Diabetes and Metabolism
Endocrinology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1297/cpe.22.45

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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 β-defensin 1 expression.",

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T1 - Association between Graves' disease and renal coloboma syndrome

T2 - A case report

AU - Sato, Takeshi

AU - Muroya, Koji

AU - Hanakawa, Junko

AU - Asakura, Yumi

AU - Takahashi, Eihiko

AU - Shiroyanagi, Yoshiyuki

AU - Yamazaki, Yuichiro

AU - Tanaka, Yukichi

AU - Hasegawa, Tomonobu

AU - Adachi, Masanori

PY - 2013

Y1 - 2013

N2 - 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.

AB - 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.

KW - Graves' disease

KW - Mutation

KW - PAX2

KW - Renal coloboma syndrome

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

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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