Abstract
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.
Highlights
The authors describe two siblings, each with a different, rare genetic condition that affects liver function
We describe two brothers who both presented with liver disease in early adulthood and were diagnosed with two different genetic conditions affecting liver function
The index case, an asymptomatic 18-year-old man of mixed Italian and Hungarian descent (Figure 1, individual IV: 2), was screened for Wilson disease following the same diagnosis in his brother
Summary
The authors describe two siblings, each with a different, rare genetic condition that affects liver function. The molecular defect causing Wilson disease in the family had been identified, and an ATP7B mutation analysis in the index case revealed that he was a carrier of the ATP7B p.H1069Q mutation. DisCussioN The present article is the first to report a case of Alagille syndrome and Wilson disease in the same family.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
