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Wilson disease (WD) is a hereditary disorder, with recessive transmission and genetic heterogeneity. Several mutations of ATP7B, the gene underlying WD, were reported in many ethnic groups. In this study, mutation screening in ATP7B of 56 Saudi Arabian WD patients was undertaken. The clinical data of all patients were recorded. The entire ATP7B coding sequence, including intron-exon boundaries were screened for mutation by the polymerase chain reaction (PCR)-based mutation detection technique and DNA sequencing. Thirty-nine patients were symptomatic at presentation and 17 subjects were pre-symptomatic siblings of affected patients. Fourteen patients had neurological, 11 patients had mixed (hepatic and neurological), and 14 patients had hepatic presentations. Family history suggestive of WD was present in 72% of cases and 68% had consanguineous parents. Genetic analysis showed disease-causing mutations in three exons (exons 8, 19 and 21) of the ATP7B gene in 28 patients (50%). Mutations in exons 21 (18 cases) and 19 (one case) were unique for Saudis. This large series of Saudi patients with WD has shown wide variability in the genomic substrate of WD. There is no correlation between genotype and clinical presentation.

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To determine the safety, complication rate and cost saving of outpatient percutaneous blind needle liver biopsy in a single tertiary care center, we retrospectively reviewed the records of all 117 patients who had had outpatient percutaneous blind needle liver biopsy from March 1994 to September 1995. We reviewed data including demography, Child's classification, histopathology report and complications, and attempted to compare the cost involved with inpatient liver biopsy. Of the 117 records studied, two were incomplete. Of the 115 patients who had complete records, 43 (37.4%) had minor complications, 2 (1.7%) required overnight hospitalization for pain and hypotension, and the procedure failed in one patient (0.9%). There was no correlation between complications and Child's classification, or concomitant chronic renal failure. In comparison to inpatient liver biopsy, we calculated that the saving made is about 1800 Saudi Riyals ($478.70) per operation, if performed on an outpatient basis. We conclude that outpatient percutaneous blind needle liver biopsy is safe, successful in more than 99% of cases, associated with no mortality, has negligible major complications requiring hospital admission, and results in considerable savings per biopsy. We therefore strongly recommend performing most liver biopsies on an outpatient basis, in the appropriate hospital setting, unless hospital admission is otherwise indicated.