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Wilson's disease (WD, OMIM #277900), also named as Hepatolenticular degeneration, is an autosomal recessive chronic copper metabolic disorder. At first, Scheinberg and Sternlieb estimated the clinical prevalence of the disease as 1/30000 based on limited available data. With the discovery of a large number of patients with Wilson’s disease and the widely use of gene sequencing, researchers have a deeper understanding of the incidence rate of this disease. Based on four high-quality clinical studies, Sandahl, T. D. and others assessed the incidence rate of the disease as between 1/29000 and 1/40000, while the incidence rate assessed based on the number of WD patients in the birth population was between 1/40000 and 1/50000 (1).
Table 1 Prevalence estimates based on the number of presenting cases relative to number of births.
|
Country |
Period |
Cases diagnosed |
No. of births |
Prevalence |
Reference |
|
Switzerland |
1946-55 |
19 |
/ |
1:44800 |
(2) |
|
Eastern Germany |
1949-1977 |
123 |
4.2 mio/28 years |
1:34400 |
(3) |
|
Western Germany |
1962 |
/ |
/ |
1:86000 |
(4) |
|
Sardinia |
1971-1981 |
16 |
266944 |
1:16700 |
(5) |
|
Ireland |
1980-1989 |
12 |
637 |
1:53000 |
(6) |
|
Denmark |
1981-1985 |
4 |
55000/year |
1:68750 |
(7) |
|
Denmark |
1990-2009 |
28 |
70000/year |
1:49500 |
(8) |
|
Czech Republic |
1995-2008 |
76 |
95000/year |
1:16500 |
(9) |
|
Poland |
1996-2016 |
156 |
385000/year |
1:49000 |
(10) |
Table 2 Screening for Wilson Disease by measurement of ceruloplasmin in blood or urine or detection of the Kayser-Fleisher (KF)-ring.
|
Method/year |
Country |
No. |
WD |
Prevalence |
Reference |
|
Blood Ceruloplasmin |
|||||
|
1999 |
Japan |
126810 |
0 |
0 |
(11) |
|
1999 |
Japan |
24165 |
3 |
1:8084 |
(11) |
|
1999 |
Japan |
2789 |
2 |
1:1400 |
(12) |
|
2002 |
South Korea |
3667 |
1 |
1:3667 |
(13) |
|
2006 |
USA |
1398 |
0 |
0 |
(14) |
|
U-Holo- Ceruloplasmin |
|||||
|
2002 |
Japan |
48819 |
2 |
1:24400 |
(15) |
|
U-Ceruloplasmin |
|||||
|
2008 |
Japan |
11362 |
1 |
1:11362 |
(16) |
|
K-F Rings |
|||||
|
2014 |
China |
153370 |
9 |
1:17000 |
(17) |
Reference:
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.
