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

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)45-51
Number of pages7
JournalClinical Pediatric Endocrinology
Volume22
Issue number3
DOIs
Publication statusPublished - 2013

Fingerprint

Graves Disease
Defensins
Mutation
Optic Nerve
Autoimmune Diseases
Kidney
Genes
Papillorenal syndrome

Keywords

  • Graves' disease
  • Mutation
  • PAX2
  • Renal coloboma syndrome

ASJC Scopus subject areas

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

Cite this

Sato, T., Muroya, K., Hanakawa, J., Asakura, Y., Takahashi, E., Shiroyanagi, Y., ... Adachi, M. (2013). Association between Graves' disease and renal coloboma syndrome: A case report. Clinical Pediatric Endocrinology, 22(3), 45-51. https://doi.org/10.1297/cpe.22.45

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.

In: Clinical Pediatric Endocrinology, Vol. 22, No. 3, 2013, p. 45-51.

Research output: Contribution to journalArticle

Sato, T, Muroya, K, Hanakawa, J, Asakura, Y, Takahashi, E, Shiroyanagi, Y, Yamazaki, Y, Tanaka, Y, Hasegawa, T & Adachi, M 2013, 'Association between Graves' disease and renal coloboma syndrome: A case report', Clinical Pediatric Endocrinology, vol. 22, no. 3, pp. 45-51. https://doi.org/10.1297/cpe.22.45
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. In: Clinical Pediatric Endocrinology. 2013 ; Vol. 22, No. 3. pp. 45-51.
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