肝豆状核变性，又名 Wilson 病（Wilson's disease，WD），是常染色体隐性遗传的慢性铜代谢障碍性疾病。早期Scheinberg和Sternlieb基于有限的数据估计该病的临床发病率为1/30000。随着肝豆状核变性患者的大量发现和基因测序手段的普及，科研人员对该病的发病率有了更深刻的认识。基于四项高质量的临床研究，Sandahl, T. D.等评估该病的发病率在1/29000至1/40000之间，而基于出生人口中WD患者的数量评估的发病率为1/40000至1/50000之间 (1)。

Table 1 根据出生人口评估的肝豆状核变性临床发病率

Table 2 通过铜蓝蛋白和K-F环检测评估肝豆状核变性的临床发病率

参考文献

1.  Sandahl TD, Laursen TL, Munk DE, Vilstrup H, Weiss KH, Ott P. The Prevalence of Wilson's Disease: An Update. Hepatology. 2020;71(2):722-32.

2.  Tschumi A, Colombo JP, Moser H. [Wilson's disease in Switzerland. Clinical, genetic and biochemical studies]. Schweiz Med Wochenschr 1973;103:140-145 concl.

3.  Bachmann H, Lossner J, Gruss B, Ruchholtz U. [The epidemiology of Wilson's disease in the German Democratic Republic and current problems from the viewpoint of population genetics]. Psychiatr Neurol Med Psychol (Leipz) 1979;31:393-400.

4.  Przuntek H, Hoffmann E. [Epidemiologic study of Wilson's disease in West Germany]. Nervenarzt 1987;58:150-157.

5.  Giagheddu A, Demelia L, Puggioni G, Nurchi AM, Contu L, Pirari G, Deplano A, et al. Epidemiologic study of hepatolenticular degeneration (Wilson's disease) in Sardinia (1902-1983). Acta Neurol Scand 1985;72:43-55.

6.  O'Brien M, Reilly M, Sweeney B, Walsh C, Hutchinson M. Epidemiology of Wilson's disease in Ireland. Mov Disord 2014;29:1567-1568.

7.  Almdal TP, Sorensen TI. Incidence of parenchymal liver diseases in Denmark, 1981 to 1985: analysis of hospitalization registry data. The Danish Association for the Study of the Liver. Hepatology 1991;13:650-655.

8.  Moller LB, Ott P, Lund C, Horn N. Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations. Am J Med Genet A 2005;138:340-343.

9.  Bruha R, Marecek Z, Pospisilova L, Nevsimalova S, Vitek L, Martasek P, Nevoral J, et al. Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation. Liver Int 2011;31:83-91.

10.  Naorniakowska M, Dadalski M, Kaminska D, Janczyk W, Lebensztejn D, Fyderek K, Wysocki J, et al. Clinical presentations of Wilson disease among Polish children. Dev Period Med 2016;20:216-221.

11.  Yamaguchi Y, Aoki T, Arashima S, Ooura T, Takada G, Kitagawa T, Shigematsu Y, et al. Mass screening for Wilson's disease: results and recommendations. Pediatr Int 1999;41:405-408.

12.  Ohura T, Abukawa D, Shiraishi H, Yamaguchi A, Arashima S, Hiyamuta S, Tada K, et al. Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics. J Inherit Metab Dis 1999;22:74-80.

13.  Hahn SH, Lee SY, Jang YJ, Kim SN, Shin HC, Park SY, Han HS, et al. Pilot study of mass screening for Wilson's disease in Korea. Mol Genet Metab 2002;76:133-136.

14.  Kroll CA, Ferber MJ, Dawson BD, Jacobson RM, Mensink KA, Lorey F, Sherwin J, et al. Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease. Mol Genet Metab 2006;89:134-138.

15.  Owada M, Suzuki K, Fukushi M, Yamauchi K, Kitagawa T. Mass screening for Wilson's disease by measuring urinary holoceruloplasmin. J Pediatr 2002;140:614-616.

16.  Nakayama K, Kubota M, Katoh Y, Sawada Y, Saito A, Nishimura K, Katsura E, et al. Early and presymptomatic detection of Wilson's disease at the mandatory 3-year-old medical health care examination in Hokkaido Prefecture with the use of a novel automated urinary ceruloplasmin assay. Mol Genet Metab 2008;94:363-367.

17.  Cheng N, Wang K, Hu W, Sun D, Wang X, Hu J, Yang R, et al. Wilson disease in the South Chinese han population. Can J Neurol Sci 2014;41:363-367.