HLA associations with tubulointerstitial nephritis with or without uveitis in Finnish pediatric population: a nation-wide study.

The human leukocyte antigen (HLA) genotype has been shown to associate with tubulointerstitial nephritis (TIN) and tubulointerstitial nephritis with uveitis syndrome (TINU). The association of HLA genes with TIN was examined in this nation-wide study. HLA genotyping was performed in 31 pediatric patients with biopsy-proven TIN. All patients were examined by an ophthalmologist to diagnose possible uveitis. Class II HLA genotypes of TIN patients were compared with the Finnish reference population. We found a significant association between the HLA alleles DQA1*04:01 [risk ratio (RR) 5.0, 95% confidence interval (CI) 2.0-11.2], DQB1*04:02 (RR 2.7, 95% CI 1.4-5.3), and DRB1*08 (RR 3.8, 95% CI 1.5-8.4) and TIN. Uveitis was found in 20/31 (64.5%) patients. HLA genotyping of the TINU patients showed additional risk HLA alleles: DQA1*01:04 (RR 6.1, 95% CI 1.5-17.8), and DRB1*14 (RR 8.2, 95% CI 2.2-22.1). The alleles DQA1*01:04 (RR 8.8, 95% CI 2.2-26.5), DQA1*04:01 (RR 3.2, 95% CI 1.2-7.3), and DRB1*14 (RR 12.0, 95% CI 3.2-33.0) were more frequent in patients with TIN and chronic uveitis than in reference population. The HLA class II haplotype DQA1*04:01/DQB1:04:02/DRB1*08 was the most common combination in our study population (58.1%). None of the patients had haplotype DQA1*04:01/DQB1*06:02/DRB1*15, which is common in Finland. HLA genotype did not predict the renal outcome. We found a strong association between certain HLA genotypes both in TIN and TINU patients. The TIN/TINU-associated HLA alleles appear to vary depending on study population.

The sensitivity and specificity of Heidelberg Retina Tomograph parameters to glaucomatous progression in disc photographs.

AIM: To determine the sensitivity and specificity of the stereometric optic nerve head (ONH) parameters of the Heidelberg Retina Tomograph (HRT) to detect an event of progression verified in serial stereoscopic ONH photography. METHODS: A retrospective study of 476 eyes of 342 patients with more than 18 months of follow-up with successful stereoscopic ONH photography was conducted. All eyes had good-quality HRT examinations with perfect image alignment. 51 (11%) eyes showed progression in the stereoscopic ONH photographs between visits. The photographs were evaluated by experienced masked observers, whose interobserver agreement (kappa) varied between 0.403 and 0.510. RESULTS: The change in most (13/22) of the stereometric ONH parameters showed a statistically significant correlation with progression. The parameter with the best correlation for progression (p<0.0005) was the cup:disc area ratio. The parameter with the largest area under the receiver operating characteristics curve (0.726) was the vertical cup:disc ratio. The linear discriminant function with the best correlation with progression was [(12.241xcup:disc area ratio)+(3.540xmean cup depth)-(2.146xhorizontal cup:disc ratio)+(27.486xaverage variability)]. An optimised change in the linear discriminant function value was 0.34 with a 65% sensitivity and a 69% specificity for progression. CONCLUSIONS: Despite good image quality, the change in the stereometric ONH parameters did not have a high sensitivity and specificity for progression detected with photographs. This indicates that the evaluation of glaucomatous progression in the ONH should not rely solely on the stereometric parameters of the HRT.