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<p><i>PAX2</i>-related disorders encompass renal coloboma syndrome (RCS) and hereditary focal segmental glomerulosclerosis (FSGS) type 7. We retrospectively analyzed 27 Korean patients with <i>PAX2</i> pathogenic variants detected between 2004 and 2022 and conducted a literature review of 328 cases, including 301 previously reported. In our cohort, 19 had RCS, 4 had FSGS, and 4 had isolated congenital anomalies of the kidneys and urinary tract. Patients were classified by variant type into predicted loss of function (pLoF) and non-pLoF variant groups, and by variant location into paired domain and other sites group. pLoF variants were predominantly associated with RCS, observed in 82% of patients in both our data (18 of 22, <i>P</i> = 0.017) and the literature (140 of 171, <i>P</i> &lt; 0.001). Kidney failure developed in 52% of Korean patients at a median age of 14.5 years, with no difference in kidney survival between variant types. However, the literature review indicated faster progression to kidney failure in patients with pLoF variants (11.0 vs. 24.0 years; pLoF, <i>n</i> = 138 vs. non-pLoF, <i>n</i> = 71; <i>P</i> = 0.002), with no significant difference by variant location. Ocular manifestations were more common, had earlier onset, and were more severe in the pLoF variants group in our cohort (<i>P</i> = 0.038). The literature confirmed a higher prevalence of ocular involvement in patients with pLoF variants (pLoF, <i>n</i> = 175 vs. non-pLoF, <i>n</i> = 88; <i>P</i> &lt; 0.001) and in those with paired domain variants (<i>P</i> = 0.01). pLoF variants in <i>PAX2</i> were associated with worse kidney and ocular outcomes. These findings support genotype-phenotype correlations, contributing to tailored management in patients with <i>PAX2</i>-related disorders.</p>

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Genotype of PAX2-related disorders correlates with kidney and ocular manifestations

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年2月24日

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  • Ji Hyun Kim,
  • Yo Han Ahn,
  • Yeonji Jang,
  • Eujin Park,
  • Hajeong Lee,
  • Seong Heon Kim,
  • Ji Yeon Song,
  • Kyoung Hee Han,
  • Jiwon Jung,
  • Joo Hoon Lee,
  • Hee Gyung Kang,
  • Jae Ho Jung,
  • Hae Il Cheong

摘要

PAX2-related disorders encompass renal coloboma syndrome (RCS) and hereditary focal segmental glomerulosclerosis (FSGS) type 7. We retrospectively analyzed 27 Korean patients with PAX2 pathogenic variants detected between 2004 and 2022 and conducted a literature review of 328 cases, including 301 previously reported. In our cohort, 19 had RCS, 4 had FSGS, and 4 had isolated congenital anomalies of the kidneys and urinary tract. Patients were classified by variant type into predicted loss of function (pLoF) and non-pLoF variant groups, and by variant location into paired domain and other sites group. pLoF variants were predominantly associated with RCS, observed in 82% of patients in both our data (18 of 22, P = 0.017) and the literature (140 of 171, P < 0.001). Kidney failure developed in 52% of Korean patients at a median age of 14.5 years, with no difference in kidney survival between variant types. However, the literature review indicated faster progression to kidney failure in patients with pLoF variants (11.0 vs. 24.0 years; pLoF, n = 138 vs. non-pLoF, n = 71; P = 0.002), with no significant difference by variant location. Ocular manifestations were more common, had earlier onset, and were more severe in the pLoF variants group in our cohort (P = 0.038). The literature confirmed a higher prevalence of ocular involvement in patients with pLoF variants (pLoF, n = 175 vs. non-pLoF, n = 88; P < 0.001) and in those with paired domain variants (P = 0.01). pLoF variants in PAX2 were associated with worse kidney and ocular outcomes. These findings support genotype-phenotype correlations, contributing to tailored management in patients with PAX2-related disorders.