An exceptional family with three consecutive generations affected by wilson disease

James T. Bennett, Kathleen B. Schwarz, Phillip D. Swanson, Si Houn Hahn

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Wilson disease (WD) is a disorder of copper transport that can cause hepatic and neuropsychiatric symptoms. Because of its broad spectrum of clinical manifestations that can present in almost any decade of life, a high degree of clinical suspicion is needed for diagnosis. We present an exceptional family with three consecutive generations affected by WD. Autosomal recessive disorders are not typically present in consecutive generations, but this can occur, particularly when carrier frequencies are as high as in WD. This point is of critical importance in counseling families affected by WD. This case also highlights the importance of genetic testing in confirming the diagnosis of WD, particularly when there is a positive family history. To our knowledge, this is the first report of WD in three consecutive generations.

Original languageEnglish (US)
Title of host publicationJIMD Reports
PublisherSpringer
Pages79-82
Number of pages4
DOIs
StatePublished - 2013

Publication series

NameJIMD Reports
Volume10
ISSN (Print)2192-8304
ISSN (Electronic)2192-8312

Keywords

  • Atp7b gene
  • Autosomal recessive disorder
  • Carrier frequency
  • Consecutive generation
  • Wilson disease

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Biochemistry, Genetics and Molecular Biology (miscellaneous)

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