Alagille Syndrome and Wilson Disease in Siblings: A Diagnostic Conundrum
The authors describe two siblings, each with a different, rare genetic condition that affects liver function. The index case, the 18-year-old asymptomatic brother of a young man recently diagnosed with Wilson disease, presented for Wilson disease screening and was also found to have abnormal liver f...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Canadian Journal of Gastroenterology |
| Online Access: | http://dx.doi.org/10.1155/2012/176543 |
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| author | Meghan Amson Esther Lamoureux Nir Hilzenrat Marc Tischkowitz |
| author_facet | Meghan Amson Esther Lamoureux Nir Hilzenrat Marc Tischkowitz |
| author_sort | Meghan Amson |
| collection | DOAJ |
| description | The authors describe two siblings, each with a different, rare genetic condition that affects liver function. The index case, the 18-year-old asymptomatic brother of a young man recently diagnosed with Wilson disease, presented for Wilson disease screening and was also found to have abnormal liver function suggestive of cholestasis. However, ceruloplasmin level, 24 h urine copper concentration and liver synthetic function were normal. Further hepatic investigations and genetic mutation analysis were performed, ultimately leading to a diagnosis of Alagille syndrome. He was treated with ursodiol, which resulted in normalization of his liver function tests. Subsequently, he was found to be a carrier for a mutation in the Wilson disease gene, ATP7B. In the present report, the potential implications of being a heterozygote for Wilson disease in the context of Alagille syndrome are discussed. Also stressed is that care must be exercised by the clinician when diagnosing family members who may present with two different disorders closely mimicking one another. |
| format | Article |
| id | doaj-art-41f10c0b33094611afcdc24ed284d372 |
| institution | Kabale University |
| issn | 0835-7900 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Canadian Journal of Gastroenterology |
| spelling | doaj-art-41f10c0b33094611afcdc24ed284d3722025-02-03T06:07:26ZengWileyCanadian Journal of Gastroenterology0835-79002012-01-0126633033210.1155/2012/176543Alagille Syndrome and Wilson Disease in Siblings: A Diagnostic ConundrumMeghan Amson0Esther Lamoureux1Nir Hilzenrat2Marc Tischkowitz3Department of Medical Genetics, Jewish General Hospital, CanadaDepartment of Pathology, Jewish General Hospital, CanadaDivision of Gastroenterology, Department of Medicine, Jewish General Hospital, CanadaDepartment of Medical Genetics, Jewish General Hospital, CanadaThe authors describe two siblings, each with a different, rare genetic condition that affects liver function. The index case, the 18-year-old asymptomatic brother of a young man recently diagnosed with Wilson disease, presented for Wilson disease screening and was also found to have abnormal liver function suggestive of cholestasis. However, ceruloplasmin level, 24 h urine copper concentration and liver synthetic function were normal. Further hepatic investigations and genetic mutation analysis were performed, ultimately leading to a diagnosis of Alagille syndrome. He was treated with ursodiol, which resulted in normalization of his liver function tests. Subsequently, he was found to be a carrier for a mutation in the Wilson disease gene, ATP7B. In the present report, the potential implications of being a heterozygote for Wilson disease in the context of Alagille syndrome are discussed. Also stressed is that care must be exercised by the clinician when diagnosing family members who may present with two different disorders closely mimicking one another.http://dx.doi.org/10.1155/2012/176543 |
| spellingShingle | Meghan Amson Esther Lamoureux Nir Hilzenrat Marc Tischkowitz Alagille Syndrome and Wilson Disease in Siblings: A Diagnostic Conundrum Canadian Journal of Gastroenterology |
| title | Alagille Syndrome and Wilson Disease in Siblings: A Diagnostic Conundrum |
| title_full | Alagille Syndrome and Wilson Disease in Siblings: A Diagnostic Conundrum |
| title_fullStr | Alagille Syndrome and Wilson Disease in Siblings: A Diagnostic Conundrum |
| title_full_unstemmed | Alagille Syndrome and Wilson Disease in Siblings: A Diagnostic Conundrum |
| title_short | Alagille Syndrome and Wilson Disease in Siblings: A Diagnostic Conundrum |
| title_sort | alagille syndrome and wilson disease in siblings a diagnostic conundrum |
| url | http://dx.doi.org/10.1155/2012/176543 |
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