THREE PREGNANCIES IN THREE PATIENTS WITH WILSON'S DISEASE TREATED WITH ZINC SULPHATE

T.U. Hoogenraad, J. Van Hattum, C.J.A. Van den Hamer* Departments of Neurology and Gastroenterology, State University Hospital Utrecht and *Interuniversity Reactor Institute, Delft, The Netherlands.

Wilson's disease is a rare autosomal recessively inherited disorder of copper metabolism resulting in the accumulation of copper in the liver and elevated concentrations of free plasma copper. Pencillamine is often regarded as the treatment of choice and induces the excretion of copper via the urine. Unfortunately in about 10% of patients some form of immunologically induced intolerance to penicillamine develops. Pregnant women have a small risk that penicillamine will cause a connective tissue defect in the child. Most clinicians advise to continue penicillamine therapy during pregnancy because the withdrawal of treatment is dangerous to the mother.

In earlier reports we have described that effective treatment of Wilson's disease can be accomplished with oral zinc supplements. Zinc supplementation induces the excretion of copper via the stools and results in a normalisation of the free plasma copper concentration. While penicillamine is potentially toxic, the toxicity of zinc is very low. Therefore we regard oral zinc therapy to be the treatment of choice for Wilson's disease.

Three of our patients have been on continuous zinc therapy (zinc sulphate: 100-200 mg three times daily) during pregnancy. Free plasma concentrations remained low throughout pregnancy. Pregnancies were uncomplicated and all three patients gave birth to healthy children.

References: Hoogenraad, T.U., Van den Hamer, C.J.A., Koevoet, R., de Ruyter Korver, E.G.W.M. Oral zinc

in Wilson's disease. Lancet. 1978; 2:1262. Hoogenraad, T.U., Van den Hamer, C.J.A., Van Hattum, J.. Effective treatment of Wilson's

disease with oral zinc sulphate: two case reports. Br. Ned. J. 1984; 289: 273-6.

LIVER INVOLVEMENT IN GLYCOGEN STORAGE DISEASE

T.C. Iancu, A. Lerner, H° Shiloh, N. Bashan*, S. Moses* Pediatric Research Unit, Carmel Hospital, 34362 Haifa and *Pediatric Research Laboratory, Soroka, Medical Center, Beer-Sheva, Israel.

Variable degrees of liver involvement have been described in many types of glycogen sto-" rage disease (GSD). While cirrhosis and ascites occur in GSD IV, hepatomegaly and/or ab- normal "liver enzymes" and various morphologic changes have been reported in GSD type 0, I, II, III, Vl, IX, X and XI. Recently, it was suggested that patients with elevated trans- aminases, and suspected of having liver disease could, in fact have various muscle diseases. Here, we describe the clinical'and morphologic liver disturbances in various types of GSD. Special emphasis is given to the less well-known types, in which both liver and muscle in- volvement are present (Type IIb: juvenile acid maltase (alpha-l,4 glucosidase) deficiency; Type IXc: phosphorylase kinase deficiency). Liver function test disturbances are milder than the light- and electron microscopic changes within hepatocytes and sinusoidal cells. The marked lysosomal glycogen accumulation found in Kupffer cells in GSD IIb could be the basis for the multiple infections seen in these patients. Ultrastructural features, hitherto undescribed, are useful for diagnosis and provide a better understanding of liver damage in these conditions. Even in the absence of hepatomegaly, elevated transaminases, with or without muscle disease, should always prompt a search for GSD, particularly its rarer types.

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