ORIGINAL ARTICLES   

Panminerva Medica 2001 September;43(3):145-8

Copyright © 2009 EDIZIONI MINERVA MEDICA

language: English

HLA antigens in alkaptonuric patients

Aliberti G., Proietta M., Pulignano I., Tamburro M. L.

From the Department of Clinical Sciences *Department of General Surgery, Surgical Specialties and Organ Transplantation, “La Sapienza” University, Rome, Italy

Background. In alkap­to­nuric ­patients a dis­abil­i­tating och­ro­notic arthrop­athy ­develops, due to the ­deposit of a pig­mented ­polymer of homo­gen­tisic ­acid. Since in inher­ited dis­eases the clin­ical expres­sions may be mul­ti­fac­to­rial, ­involving ­genetic and envi­ron­mental fac­tors, ­where the HLA ­system may ­play a ­role, we ­studied HLA anti­gens in och­ro­notic ­patients.
Methods. The ­study was car­ried out in ­21 mem­bers of ­three fam­i­lies of six och­ro­notic ­patients and in two iso­lated och­ro­notic ­patients. The HLA ­typing has ­been ­done ­testing for anti­gens ­from ­loci A, B and C, by inter­na­tional stan­dard micro­lym­pho­cy­to­tox­icity ­method, and for ­loci DR and DQ, by flu­o­res­cence ­method on immu­no­log­i­cally iso­lated ­cells by ­means of anti­body-­coated micro­spheres. The χ2 ­test was ­used for sta­tis­tical anal­ysis, ­with Yates cor­rec­tion due to the low ­number of obser­va­tions.
Results. Despite the lim­ited ­number of sub­jects, due to the ­rarity of the dis­ease, a sig­nif­i­cantly ­higher prev­a­lence of HLA-DR7 ­antigen was ­found in the alkap­to­nuric ­patients ­when com­pared to a gen­eral pop­u­la­tion (p<0.02), sug­gesting a pos­sible asso­ci­a­tion, ­while the prev­a­lence of HLA A, B, C and DQ ­showed no sig­nif­i­cant dif­fer­ences.
Conclusions. It ­might ­play a ­role in the pathoph­y­sio­logy and in the clin­ical expres­sion of the dis­ease.