Новый метод диагностики на основе ОКТ позволяет точно выявлять синдром Альпорта и отличать его от других заболеваний почек

Temporal Thinning Index Maximum (TTIMax), a retinal optical coherence tomography (OCT) metric, may provide a highly accurate, noninvasive tool to identify severe Alport syndrome (AS) and distinguish inherited podocytopathies from primary focal segmental glomerulosclerosis (FSGS), according to findings from a study published in Kidney International. This observational study enrolled 93 genetically confirmed patients with AS and 136 controls, including 84 patients with chronic kidney disease (CKD) and 52 healthy individuals. The cohort included 15 patients with primary FSGS and 6 patients with COL4-related FSGS. TTIMax values increased with disease severity and remained stable over 4 to 14 years despite changes in kidney function, supporting its use as a structural marker of type IV collagen disease (COL4) that can discern inherited COL4-related FSGS from primary immune-mediated FSGS. TTIMax showed a distinct gradient across genotype groups. Mean values were approximately 11.8% among patients with severe X-linked AS-male (autosomal recessive AS), 7.3% to 8.1% among those with intermediate X-linked AS-female (autosomal dominant AS), and 5.3% to 5.8% among patients with CKD and healthy controls. The association with disease severity remained significant after adjustment for age, blood pressure, and estimated glomerular filtration rate. Receiver operating characteristic analysis demonstrated excellent discrimination between severe AS and controls, with an area under the curve of 0.983 (95% CI, 0.9597-1.00). At the optimal TTIMax threshold of 8.40%, sensitivity was 93.0%, and specificity was 99.3%. TTIMax also differentiated severe AS (n=43) from primary FSGS (P <.001), yielding an area under the curve of 0.974 (95% CI, 0.938-1.00). A cutoff of at least 8.59% provided 90.7% sensitivity and 100% specificity. The metric also separated COL4-related FSGS from primary FSGS (P =.02), with an area under the curve of 0.91 (95% CI, 0.77-1.00). A threshold of at least 6.83% produced 100% sensitivity and 66.7% specificity. Longitudinal evaluation of 12 patients with AS found TTIMax remained remarkably stable over 4 to 14 years, indicating that the measure likely reflects a fixed structural phenotype rather than progressive retinal injury. TTIMax values in patients harboring COL4A3-A5 variants of uncertain significance also closely resembled those associated with pathogenic genotypes, suggesting potential utility for reverse phenotyping and variant reclassification. “TTIMax represents a practical, objective, and widely available structural biomarker that complements genetic testing and kidney biopsy (which is only occasionally performed),” stated the authors. “By integrating OCT into routine nephrology workflows—literally bringing it into the nephrology toolkit—clinicians can improve the detection of AS and reduce the misclassification of inherited FSGS, thereby preventing the inappropriate use of immunosuppressive therapy often prescribed for primary forms.” This article originally appeared on Rare Disease Advisor References: Ibrahim A, Kolachalama VB, Abuelsamen T, et al. Noninvasive optical coherence tomography biomarker for Alport syndrome, COL4-related focal segmental glomerulosclerosis, and COL4 variant interpretation. Kidney Int. Published online July 24, 2026. doi:10.1016/j.kint.2026.06.029