Biliary atresia combined Wilson disease identified by whole exome sequencing in Vietnamese patient with severe liver failure

Medicine (United States) - Tập 101 Số 2 - Trang e28547
Nguyen Pham Anh Hoa1, Nguyễn Thị Kim Liên2, Nguyen Van Tung3,2, Ngọc-Lan Nguyen2, Nguyen Thi Phuong4, Nguyen Thi Mai Huong4, Hoang Ngoc Thach5,6,7, Nguyễn Huy Hoàng3,2
1Hepatology Department, Vietnam National Hospital of Pediatrics, Ministry of Health, 18/879 La Thanh Str., Dongda, Hanoi, Vietnam
2Institute of Genome Research, Vietnam Academy of Science and Technology, 18 - Hoang Quoc Viet Str., Caugiay, Hanoi, Vietnam
3Graduate University of Science and Technology, Vietnam Academy of Science and Technology, Vietnam
4Human Genetics Department, Vietnam National Hospital of Pediatrics, Ministry of Health, 18/879 La Thanh Str., Dongda, Hanoi, Vietnam
5101:2(e28547).
6How to cite this article: Hoa NP, Lien NT, Van Tung N, Lan NN, Mai NT, Huong NT, Thach HN, Hoang NH. Biliary atresia combined Wilson disease identified by whole exome sequencing in Vietnamese patient with severe liver failure. Medicine. 2022
7Pathology Department, Vietnam National Hospital of Pediatrics, Ministry of Health, 18/879 La Thanh Str., Dongda, Hanoi, Vietnam.

Tóm tắt

Abstract Rationale: Hepatobiliary diseases such as biliary atresia (BA), Wilson disease, and progressive familial intrahepatic cholestasis are common causes of morbidity and mortality in young children. Affected patients progress rapidly to end-stage cirrhosis and require liver transplantation or die. Mutations in many genes have been identified to play an important role in the pathogenesis of hepatobiliary diseases. Patient concerns and diagnosis: In this study, we identified mutations in an 8-year-old girl who had severe liver failure. The patient was first diagnosed with BA at 2.5 months of age and has undergone Kasai surgery to connect the umbilical cord and jejunum. After that, the patient suddenly had unusual developments with symptoms of jaundice, acute liver failure with hemolysis. She was tested and diagnosed with Wilson disease. Interventions and outcomes: She was treated according to the regimen for a patient with Wilson disease but had abnormal progress leading to severe liver failure. Genetic analysis was performed by whole exome sequencing and Sanger sequencing methods. The genetic analysis revealed that the patient had a homozygous mutation (p.Gly17Glyfs77∗) in the KRT18 gene, a double heterozygous mutation (p.Ser105∗ and p.Pro992Leu) in the ATP7B gene, and a homozygous variant (p.Val444Ala) in the ABCB11 gene. In silico prediction of mutations indicated that these mutations are the cause of the severe liver failure in the patient. Lesson: This is a rare clinical case of a BA patient combined with Wilson disease. Our results suggested that whole exome sequencing is an effective diagnostic tool and emphasizes the importance of early diagnosis and appropriate management to save lives and prevent serious complications in the patient.

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Medicine (United States)

Tập 101 Số 2

e28547

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