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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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
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author Sato, Takeshi
Muroya, Koji
Hanakawa, Junko
Asakura, Yumi
Takahashi, Eihiko
Shiroyanagi, Yoshiyuki
Yamazaki, Yuichiro
Tanaka, Yukichi
Hasegawa, Tomonobu
Adachi, Masanori
author_facet Sato, Takeshi
Muroya, Koji
Hanakawa, Junko
Asakura, Yumi
Takahashi, Eihiko
Shiroyanagi, Yoshiyuki
Yamazaki, Yuichiro
Tanaka, Yukichi
Hasegawa, Tomonobu
Adachi, Masanori
author_sort Sato, Takeshi
collection PubMed
description 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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spelling pubmed-37482832013-08-21 Association Between Graves’ Disease and Renal Coloboma Syndrome: A Case Report Sato, Takeshi Muroya, Koji Hanakawa, Junko Asakura, Yumi Takahashi, Eihiko Shiroyanagi, Yoshiyuki Yamazaki, Yuichiro Tanaka, Yukichi Hasegawa, Tomonobu Adachi, Masanori Clin Pediatr Endocrinol 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 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. The Japanese Society for Pediatric Endocrinology 2013-08-01 2013-07 /pmc/articles/PMC3748283/ /pubmed/23966757 http://dx.doi.org/10.1297/cpe.22.45 Text en 2013©The Japanese Society for Pediatric Endocrinology http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License.
spellingShingle Case Report
Sato, Takeshi
Muroya, Koji
Hanakawa, Junko
Asakura, Yumi
Takahashi, Eihiko
Shiroyanagi, Yoshiyuki
Yamazaki, Yuichiro
Tanaka, Yukichi
Hasegawa, Tomonobu
Adachi, Masanori
Association Between Graves’ Disease and Renal Coloboma Syndrome: A Case Report
title Association Between Graves’ Disease and Renal Coloboma Syndrome: A Case Report
title_full Association Between Graves’ Disease and Renal Coloboma Syndrome: A Case Report
title_fullStr Association Between Graves’ Disease and Renal Coloboma Syndrome: A Case Report
title_full_unstemmed Association Between Graves’ Disease and Renal Coloboma Syndrome: A Case Report
title_short Association Between Graves’ Disease and Renal Coloboma Syndrome: A Case Report
title_sort association between graves’ disease and renal coloboma syndrome: a case report
topic Case Report
url 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
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