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논문분류	춘계학술대회 초록집
제목	Genotype-phenotype analysis in patients with PAX2 pathogenic variants: beyond renal coloboma syndrome
저자	JI HYUN KIM
출판정보	2024; 2024(1):
키워드
초록	Objectives: PAX2-related disorders include two distinct syndromes, renal coloboma syndrome (RCS), characterized by congenital anomalies of the kidney and urinary tract (CAKUT) and abnormalities of the optic disc, and hereditary focal segmental glomerulosclerosis (FSGS) type 7. We evaluated genotype-phenotype correlations, including long-term clinical outcomes, in patients with PAX2 pathogenic variants. Methods: In this multicenter retrospective study, among 27 patients with PAX2 pathogenic variants detected from 2004–2022, 19 had RCS, 4 had FSGS, and 4 had isolated CAKUT. Based on variant types, patients were classified into predicted loss of function (pLoF) (n=22) and missense (n=5) variant groups. Results: The pLoF variants mostly led to RCS (81.8%), while missense variants primarily caused FSGS (n=2) and isolated CAKUT (n=2) (80.0%) (P=0.034). Kidney failure developed in 14 patients, with a median age of 14.5 (95% confidence interval 11.9–17.1) years, showing no difference in kidney survival between the pLoF and missense variant groups. However, variants in the paired domain of PAX2 resulted in kidney failure more rapidly than variants in other sites (log-rank test, P=0.025). Regarding ocular manifestations, the pLoF variant group exhibited more common, earlier onset and severe involvement compared to the missense variant group (log-rank test, P=0.038). Conclusions: pLoF variants in PAX2 were associated with severe ocular involvement not confined to the optic disc, and variants in the paired domain were related to poor long-term kidney outcomes. Our findings support genotype-phenotype correlations in the ophthalmology field and emphasize the impact of the paired domain on kidney outcomes in patients with PAX2 pathogenic variants.
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