Syndromic variability of Wilson's disease in children. Clinical study of 44 cases

R. Giacchino, M. G. Marazzi, A. Barabino, L. Fasce, B. Ciravegna, L. Famularo, L. Boni, F. Callea

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

Background. In children with Wilson's disease, no clinical or laboratory data are specific for diagnosis as in adult age. Aim. Clinical aspects and parameters of copper metabolism in a large series of pediatric cases are evaluated to establish certain criteria for diagnosis and for correct treatment, even in difficult cases. Methods. In 44 children with Wilson's disease, clinical aspects, histological features, laboratory parameters and data of copper metabolism have been studied. Forty patients, treated with penicillamine, were followed up (median 77 months). Results. The 44 cases were classified as: asymptomatic forms (nine cases, six of them siblings of affected subjects), chronic hepatitis (23 cases), hepatocerebral manifestations (four cases), decompensated cirrhosis (six cases), fulminant hepatic failure with hemolytic anemia (two cases). Ceruloplasmin levels were abnormal in 37 out of 43 tested cases, but normal in six (14%) who showed high basal and after penicillamine load urine copper excretion and increased hepatic copper content. Urine copper concentration was pathological in 35 out of 42 tested cases (83%), brit normal in seven patients under six years. Hepatic copper levels were very high in all the 20 tested patients. Under treatment, 27 children had favourable outcome. One patient showed no evolution of disease, seven patients worsened because of non-compliance to the therapy (one underwent successful liver transplantation) or severe side effects. Five patients with failure died. Conclusions. Wilson's disease in children may present with a broad clinical spectrum, but the liver involvement is by far the most prevalent. The early diagnosis, based on clinical suspicion and results of copper metabolism investigation (including hepatic copper content evaluation in difficult cases) and appropriate treatment can prevent the progression of the disease.

Original languageEnglish
Pages (from-to)155-161
Number of pages7
JournalItalian Journal of Gastroenterology and Hepatology
Volume29
Issue number2
Publication statusPublished - 1997

Fingerprint

Hepatolenticular Degeneration
Copper
Penicillamine
Liver
Urine
Ceruloplasmin
Acute Liver Failure
Clinical Studies
Hemolytic Anemia
Chronic Hepatitis
Therapeutics
Liver Transplantation
Disease Progression
Siblings
Early Diagnosis
Fibrosis
Pediatrics

Keywords

  • Copper
  • Liver disease
  • Penicillamine
  • Wilson's disease

ASJC Scopus subject areas

  • Gastroenterology

Cite this

Syndromic variability of Wilson's disease in children. Clinical study of 44 cases. / Giacchino, R.; Marazzi, M. G.; Barabino, A.; Fasce, L.; Ciravegna, B.; Famularo, L.; Boni, L.; Callea, F.

In: Italian Journal of Gastroenterology and Hepatology, Vol. 29, No. 2, 1997, p. 155-161.

Research output: Contribution to journalArticle

Giacchino, R, Marazzi, MG, Barabino, A, Fasce, L, Ciravegna, B, Famularo, L, Boni, L & Callea, F 1997, 'Syndromic variability of Wilson's disease in children. Clinical study of 44 cases', Italian Journal of Gastroenterology and Hepatology, vol. 29, no. 2, pp. 155-161.
Giacchino, R. ; Marazzi, M. G. ; Barabino, A. ; Fasce, L. ; Ciravegna, B. ; Famularo, L. ; Boni, L. ; Callea, F. / Syndromic variability of Wilson's disease in children. Clinical study of 44 cases. In: Italian Journal of Gastroenterology and Hepatology. 1997 ; Vol. 29, No. 2. pp. 155-161.
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abstract = "Background. In children with Wilson's disease, no clinical or laboratory data are specific for diagnosis as in adult age. Aim. Clinical aspects and parameters of copper metabolism in a large series of pediatric cases are evaluated to establish certain criteria for diagnosis and for correct treatment, even in difficult cases. Methods. In 44 children with Wilson's disease, clinical aspects, histological features, laboratory parameters and data of copper metabolism have been studied. Forty patients, treated with penicillamine, were followed up (median 77 months). Results. The 44 cases were classified as: asymptomatic forms (nine cases, six of them siblings of affected subjects), chronic hepatitis (23 cases), hepatocerebral manifestations (four cases), decompensated cirrhosis (six cases), fulminant hepatic failure with hemolytic anemia (two cases). Ceruloplasmin levels were abnormal in 37 out of 43 tested cases, but normal in six (14{\%}) who showed high basal and after penicillamine load urine copper excretion and increased hepatic copper content. Urine copper concentration was pathological in 35 out of 42 tested cases (83{\%}), brit normal in seven patients under six years. Hepatic copper levels were very high in all the 20 tested patients. Under treatment, 27 children had favourable outcome. One patient showed no evolution of disease, seven patients worsened because of non-compliance to the therapy (one underwent successful liver transplantation) or severe side effects. Five patients with failure died. Conclusions. Wilson's disease in children may present with a broad clinical spectrum, but the liver involvement is by far the most prevalent. The early diagnosis, based on clinical suspicion and results of copper metabolism investigation (including hepatic copper content evaluation in difficult cases) and appropriate treatment can prevent the progression of the disease.",
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AU - Marazzi, M. G.

AU - Barabino, A.

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AU - Ciravegna, B.

AU - Famularo, L.

AU - Boni, L.

AU - Callea, F.

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