European Journal of Pediatrics

, Volume 146, Issue 3, pp 261–265 | Cite as

Presenting symptoms and natural history of Wilson disease

  • T. Saito
Original Investigations

Abstract

The presenting symptoms of Wilson disease and its natural history as related to age are described based on 283 cases collected in Japan. The disease presented with a variety of signs and symptoms; the most frequent were in order of frequency jaundice, dysarthria, clumsiness, tremor, drooling, gait disturbance, malaise and arthralgia. The mean age at onset of the disease was 12.0 years. Hepatic and osteoarthral symptoms developed early and neurological symptoms late. Fifty-eight cases develolped neurological symptoms only, 28 cases had hepatic symptoms only, and in 26 cases hepatic mortality rate was observed in hepatic, hepato-haematological and hepato-renal cases mainly due to acute hepatic failure resulting in death only a few weeks after onset. Cases having only neurological symptoms showed a more favourable prognosis with a longer survival.

Key words

Hepatolenticular degeneration Wilson disease 

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References

  1. 1.
    Arima M (1974) Genetic aspect of Wilson's disease. Shinkeinaika 1:577–582 (Japanese)Google Scholar
  2. 2.
    Arima M, Komiya K (1970) Prevention of Wilson's disease. Paediatria Universitalis Tokyo 18:22–24Google Scholar
  3. 3.
    Aoki T, Nakahashi M (1977) New screening method for Wilson's disease and Menkes' kinky hair disease. Lancet II:1140Google Scholar
  4. 4.
    Arima M, Sano I (1968) Genetic studies of Wilson's disease in Japan. Birth Defects 4:54–59Google Scholar
  5. 5.
    Bachmann H, Lößner J, Biesold D (1979) Untersuchungen zur Wilsonschen Erkrankung in der DDR. Teil I: Genetik und Epidemiologie. Z Gesamte Inn Med 34:744–748Google Scholar
  6. 6.
    Bearn AG (1960) A genetical analysis of thirty families with Wilson's disease (hepatolenticular degeneration). Ann Hum Genet 24:33–43Google Scholar
  7. 7.
    Bearn AG, Yü TF, Gutman AB (1957) Renal function in Wilson's disease. J Clin Invest 36:1107–1114Google Scholar
  8. 8.
    Boudin G, Pépin B (1961) Osteoarticular changes in hepatolenticular degeneration. In: Walshe JM, Cumings JN (eds) Wilson's disease. Blackwell, Oxford, pp 233–236Google Scholar
  9. 9.
    Canelas HM, Carvalho N, Scaff M, Vitule A, Barbosa ER, Azevedo EM (1978) Osteoarthropathy of hepatolenticular degeneration. Acta Neurol Scand 57:481–487Google Scholar
  10. 10.
    Chiauzzi R, Cunego A, De Luca D (1980) Studio epidemiologico sul morbo di Wilson. G Clin Med 61:284–296Google Scholar
  11. 11.
    Cox DW, Fraser FC, Sass-Kortsak A (1972) A genetic study of Wilson's disease; evidence for heterogeneity. Am J Hum Genet 24:646–666Google Scholar
  12. 12.
    Dastur DK, Manghani DK, Wadia NH (1968) Wilson's disease in India. I. Geographic, genetic and clinical aspects in 16 families. Neurology 18:21–31Google Scholar
  13. 13.
    Deiss A, Lynch RE, Lee GR, Cartwright GE (1971) Long-term therapy of Wilson's disease. Ann Intern Med 75:57–65Google Scholar
  14. 14.
    Dobyns WB, Goldstein NP, Gordon H (1979) Clinical spectrum of Wilson's disease (Hepatolenticular degeneration). Mayo Clin Proc 54:35–42Google Scholar
  15. 15.
    Goldstein NP, Owen CA (1974) Symposium on copper metabolism and Wilson's disease. Mayo Clin Proc 49:363–367Google Scholar
  16. 16.
    Horiguchi S, Teramoto K, Kurono T, Ninomiya K (1978) An attempt at comparative estimate of daily intake of several metals (As, Cu, Pb, Mn, Zn) from foods in thirty countries in the world. Osaka City Med J 24:237–242Google Scholar
  17. 17.
    Leu ML, Strickland T, Wang CC, Chen TSN (1970) Skin pigmentation in Wilson's disease. JAMA 211:1542–1543Google Scholar
  18. 18.
    Saito T (1981) An assessment of efficiency in potential screening for Wilson's disease. J Epidemiol Community Health 35:274–280Google Scholar
  19. 19.
    Scheinberg IH (1983) Investigating diseases no one's got. N Engl J Med 309:918–919Google Scholar
  20. 20.
    Slovis TL, Dubois RS, Rodgerson DO, Silverman A (1971) The varied manifestations of Wilson's disease. J Pediatr 78:578–584Google Scholar
  21. 21.
    Sternlieb I, Scheinberg IH (1968) Prevention of Wilson's disease in asymptomatic patients. N Engl J Med 278:352–359Google Scholar
  22. 22.
    Strickland GT, Frommer D, Leu ML, Pollard R, Sherlock S, Cumings JN (1973) Wilson's disease in the United Kingdom and Taiwan. Q J Med 42:619–638Google Scholar
  23. 23.
    Walshe JM (1962) Wilson's disease — the presenting symptoms. Arch Dis Child 37:253–256Google Scholar
  24. 24.
    Walshe JM (1975) Missed Wilson's disease. Lancet II:405Google Scholar
  25. 25.
    Walshe JM (1984) Wilson's disease. Br Med J 288:1689Google Scholar

Copyright information

© Springer-Verlag 1987

Authors and Affiliations

  • T. Saito
    • 1
  1. 1.Department of Public Health, School of Nursing and Medical TechnologyUniversity of Occupational and Environmental HealthKitakyushuJapan

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