Increased rates of donation with laparoscopic donor nephrectomy.

OBJECTIVE: To examine the impact of laparoscopic nephrectomy and recipient education on the proportion of kidney recipients who could identify a potential live donor, and on the live donor (LD) transplantation rate. SUMMARY BACKGROUND DATA: Laparoscopic donor nephrectomy (LDN) results in less postoperative surgical pain, a shorter hospital stay, and quicker recovery than the standard open donor nephrectomy (ODN). The authors hypothesized that the availability of this less invasive surgical technique would enhance the willingness of family and friends to donate. METHODS: The study population consisted of 3,298 end-stage renal disease patients referred for kidney transplant evaluation between November 1991 and February 2000, divided into three groups. The first group received no formal LD education and had only ODN available. The second group received formal education about the LD process and had only ODN available. The third group had both formal LD education and LDN available. Records were examined to determine what proportion of each group had any potential donors tissue-typed, and the rate at which they received an LD transplant. RESULTS: Before LDN availability and formal LD education, only 35.1% of referrals found a potential donor, and only 12.2% received an LD transplant within 3 years. Institution of a formal education program increased the volunteer rate to 39.0%, and 16.5% received an LD transplant. When LDN became available, 50% of patients were able to find at least one potential donor, and within 3 years 24.7% received an LD transplant. Regression analysis indicated that availability of LDN was independently associated with a 1.9 relative risk of receiving an LD transplant. Kaplan-Meier death-censored 1- and 3-year graft survival rates for ODN transplants were 95.8% and 90.6%, versus 97.5% and 94. 8% for LDN. CONCLUSIONS: The availability of LDN and an LD family education program has doubled the live donor transplantation rate, and outcomes remain excellent.

Pars planitis: clinical features and class II HLA associations.

OBJECTIVE: To describe a cohort of patients with pars planitis followed at a single tertiary care institution, determine the frequency of multiple sclerosis and/or optic neuritis in patients with this disorder, and calculate gene frequencies of human leukocyte antigen (HLA) class II alleles in these patients. DESIGN: Fifty-three patients with the diagnosis of pars planitis underwent clinical record review or telephone interview for follow-up or both; 32 of these underwent phlebotomy for analysis of HLA class II alleles. MAIN OUTCOME MEASURES: Outcomes included visual acuity, occurrence of multiple sclerosis and/or optic neuritis, and HLA class II gene frequencies. RESULTS: With a mean follow-up of 2 years, approximately 90% of patients maintained a visual acuity better than 20/40 in at least one eye. The most frequently encountered ophthalmic complications included cystoid macular edema, cataract, and epiretinal membrane formation. Of 37 patients with pars planitis who had medical or neurologic follow-up evaluations, 6 (16.2%) developed multiple sclerosis. The HLA-DR15 allele, coding for one of the two HLA-DR2 subtypes, was associated with pars planitis (odds ratio = 2.86, 95% confidence interval = 1.42-5.78, P = 0.004). CONCLUSIONS: A common immunogenetic predisposition to multiple sclerosis and pars planitis may be associated with the HLA-DR15 allele. This association may represent genetic linkage to the HLA-DR locus or a role for the HLA-DR15 gene product in the pathogenesis of both of these diseases.

The distribution of HLA antigens and phenotypes among donors and patients in the UNOS registry.

We have analyzed HLA data from the UNOS registry on 20,230 patients on the renal waiting list in 1991 and 18,708 donors from 1988-1992. Significant differences were found in the distribution of HLA antigens for comparisons of the total donor pool and the various racial groups of patients as well as for inter- and intraracial comparisons of donors and patients. Within a racial group, the frequencies of blanks and of broad antigens were usually higher in patients while those of splits were usually higher in donors. Comparisons between the total donor pool and the various racial groups of patients showed that the likelihood of mismatch was greater for African-Americans and Hispanics than for Caucasians but that the chance of mismatch is high for all groups and the average number of antigens mismatched will not vary greatly among the different races. Heterogeneity, as measured by the percentage of the population with different phenotypes, was higher in African-Americans (97.2-99.7%) and Hispanics (97.7-99.4%) than in Caucasians (83.3-86.5%) because of multiple occurrences of a few phenotypes, most containing A1, B8 and DR3, in Caucasians. However, the most common phenotypes of Caucasian donors differed from those of Caucasian patients. All phenotypes were rare (0.007-0.61%) and, with the exception of a small group of Caucasian patients, the likelihood of achieving a good match is low, regardless of race. These data explain the observations that, with the exception of the phenotypically identical match, HLA matching does not influence organ distribution significantly.

Linkage studies of Best's macular dystrophy.

Genetic linkage studies are presented for nine kindreds with Best's vitelliform macular dystrophy (BVMD). This condition is an autosomal dominant macular dystrophy with reduced penetrance and highly variable expressivity. Asymptomatic carriers were identified with electro-oculography, fundus photographs and fluorescein angiography. Blood and saliva specimens were obtained from informative family members and genotyped for 26 polymorphic genetic traits. No firm evidence was found for linkage between BVMD and 18 informative markers; the highest positive lod score was z = 0.57 for GPT1 at a recombination fraction of theta = 0.30. An atypical form of vitelliform macular dystrophy (VMD-1) is linked to GPT1 (theta less than 0.05) and is provisionally assigned to chromosome 16pter-p11. Our data are not sufficient to rule out loose linkage for GPT1 and BVMD. Thus we were not able to determine whether BVMD and VMD-1 are allelic mutations or separate genetic disorders. Additional linkage and gene mapping studies of these loci and BVMD (as well as other atypical forms of macular dystrophy) would be useful to further delineate these disorders.