Abstract A 3-year-old boy had abnormal liver function, which was found in physical examination, for 5 months before admission. He had no symptoms such as anorexia, poor appetite, and jaundice, had normal growth and development, and showed no hepatosplenomegaly. Laboratory examination revealed significantly reduced ceruloplasmin (35 mg/L), as well as negative hepatotropic virus, cytomegalovirus, and Epstein-Barr virus. There were normal muscle enzymes, blood glucose, and blood ammonia and negative liver-specific autoantibodies. The boy had negative K-F ring and normal 24-hour urine copper (0.56 μmol/L). The ATP7B gene testing for the boy, his sister, and their parents detected two novel missense mutations in the boy and his sister, i.e., compound heterozygous mutations in exon 7 (c.2075T>C, p.L692P) and exon 13 (c.3044T>C, p.L1015P), which were inherited from their father and mother, respectively. Wilson's disease was confirmed by genetic diagnosis in the boy and his sister. The boy and his sister were given a low-copper diet. The boy was administered with penicillamine for decoppering and zinc supplement against copper uptake. His sister received zinc supplement alone because no clinical symptoms were observed. The boy showed normal liver function in the reexamination after 3 months of treatment.
ZHU Yu,DENG Si-Yan,WAN Chao-Min. A young boy with elevated aminotransferases in physical examination —Two novel missense mutations associated with Wilson's disease were found[J]. CJCP, 2015, 17(7): 741-743.
ZHU Yu,DENG Si-Yan,WAN Chao-Min. A young boy with elevated aminotransferases in physical examination —Two novel missense mutations associated with Wilson's disease were found[J]. CJCP, 2015, 17(7): 741-743.
Ala A, Walker AP, Ashkan K, et al. Wilson's disease[J]. Lancet, 2007, 369(9559): 397-408.
[1]
Pierpont ME, Basson CT, Benson DJ, et al. Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics[J]. Circulation, 2007, 115(23): 3015-3038.
[5]
Tanzi RE, Petrukhin K, Chernov I, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene[J]. Nat Genet, 1993, 5(4): 344-350.
[2]
Lincoln J, Yutzey KE. Molecular and developmental mechanisms of congenital heart valve disease[J]. Birth Defects Res A Clin Mol Teratol, 2011, 91(6): 526-534.
[6]
Roberts EA, Schilsky ML; American Association for Study of Liver Diseases (AASLD). Diagnosis and treatment of Wilson disease: an update[J]. Hepatology, 2008, 47(6): 2089-2111.
[3]
Lin CJ, Lin CY, Chen CH, et al. Partitioning the heart: mechanisms of cardiac septation and valve development[J]. Development, 2012, 139(18): 3277-3299.
[4]
Tanaka SS, Kojima Y, Yamaguchi YL, et al. Impact of WNT signaling on tissue lineage differentiation in the early mouse embryo[J]. Dev Growth Differ, 2011, 53(7): 843-856.
[5]
Piven' OO, Pal'Chevs'ka OL, Lukash LL, et al. The Wnt/ beta-catenin signaling in embryonic cardiogenesis, postnatal development and myocardium reconstruction[J]. Tsitol Genet, 2014, 48(5): 72-83.
[7]
Dufernez F, Lachaux A, Chappuis P, et al. Wilson disease in offspring of affected patients: report of four French families[J]. Clin Res Hepatol Gastroenterol, 2013, 37(3): 240-245.
[6]
von Maltzahn J, Chang NC, Bentzinger CF, et al. Wnt signaling in myogenesis[J]. Trends Cell Biol, 2012, 22(11): 602-609.
[7]
Gessert S, Kuhl M. The multiple phases and faces of Wnt signaling during cardiac differentiation and development[J]. Circ Res, 2010, 107(2): 186-199.
[8]
Merle U, Schaefer M, Ferenci P, et al. Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study[J]. Gut, 2007, 56(1): 115-120.
[8]
Dohn TE, Waxman JS. Distinct phases of Wnt/beta-catenin signaling direct cardiomyocyte formation in zebrafish[J]. Dev Biol, 2012, 361(2): 364-376.
[9]
Michael LS. Genetic testing for Wilson disease: availability and utility[J]. Curr Gastroenterol Rep, 2010, 12(1): 57-61.
