Wilson disease (WD), an autosomal recessive disorder of copper transport, is the most common inherited liver disorder in Hong Kong Chinese. This was the first local study to elucidate the molecular basis and establish an effective DNA-based diagnostic protocol. The ATP7B genes of 65 patients were amplified by polymerase chain reaction (PCR) and sequenced. Haplotype analysis was performed using D13S301, D13S314, and D13S316. The p.L770L/p.R778L status in 660 subjects was determined to estimate WD prevalence. Allele age of p.R778L was determined by the smallest homozygosity region between D13S301 and D13S270. We identified 42 different mutations with 17 being novel. p.R778L (17.3%) was the most prevalent. Exons 2, 8, 12, 13, and 16 harbored 70% mutations. Thirty-two haplotypes were associated with WD chromosomes. The estimated prevalence rate was 1 in 5,400.

No abstract

No abstract

No abstract

No abstract

No abstract

Objective Superior patient survival on continuous ambulatory peritoneal dialysis (CAPD) with 3 x 2-L exchanges has been reported from Hong Kong. This study examined the relationship between indices of dialysis adequacy and nutrition and patient survival on CAPD in Hong Kong. Design A cross-sectional study on prevalent CAPD patients. Patients were assessed for indices of dialysis adequacy and nutritional status with a composite nutritional index (CNI). Patients were then followed for 24 months. Survival data were analyzed according to adequacy indices and nutritional status. Setting All prevalent CAPD patients in nine dialysis centers in Hong Kong as of 1 April 1996. Main Outcome Measure Mortality. Results 937 patients were assessed: 68.2% were using 3 x 2-L exchanges per day; mean age was 54.6 ± 13 years. Mean total Kt/V was 1.83 ± 0.42 and total creatinine clearance was 55.6 ± 19.5 L/week/1.73 m2. 19% of patients were moderately to severely malnourished according to the CNI. There was no significant correlation between indices of adequacy and serum albumin or CNI. The 1- and 2-year patient survival from the time of assessment was 90.9% and 79.8%. There was a trend toward better survival in patients with Kt/V greater than 2.0, but it was not statistically significant. Peritoneal Kt/V did not impact survival in anuric patients. Malnourished patients had poorer survival than patients who were better nourished ( p = 0.0259). After adjusting for age and diabetes, CNI was predictive of mortality but Kt/V and creatinine clearance were not. Conclusions This study demonstrates the importance of nutritional status over adequacy indices in predicting patient survival. There was a lack of correlation between nutritional status and conventional indices of dialysis adequacy.

No abstract