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논문분류	춘계학술대회 초록집
제목	Clinical and Radiologic Features of COL4A-related Polycystic Kidney Disease
저자	Hyosung Kim
출판정보	2026; 2026(1):
키워드	PKD, COL4A
초록	Case Study: Autosomal dominant polycystic kidney disease (ADPKD) is mainly caused by PKD1 and PKD2. Recently, COL4A mutations have been reported in polycystic kidney disease (PKD) patients, but their clinical and radiologic characteristics are poorly defined. We aimed to characterize phenotypes of COL4A-related PKD. We enrolled 1,629 adult patients with PKD between May 2019 to May 2025. Among them, we analyzed data from those who demonstrated COL4A variants. Demographic data, medical and family history were recorded at enrollment, and laboratory evaluations were performed annually. Kidney function was assessed by estimated glomerular filtration rate (eGFR). Total kidney volume (TKV) was measured using non-enhanced kidney computed tomography. Among 1,629 individuals, 1,242 had available genetic results, and 30 (2.4%) had COL4A variants. Among COL4A variants, COL4A5 was most frequent (43.3%), followed by COL4A3 (30.0%), COL4A4 (20.0%), and COL4A1 (6.7%). The patients with COL4A group showed older age (52 vs. 41 years old, p<0.001) and male predominance (63% vs 49%, p=0.02) compared to those with PKD1 genotype. The prevalence of polycystic liver was less frequent in COL4A group compared to other genotypes (31% vs 47% in PKD1 vs 57% in PKD2, p<0.001). There were no significant differences in eGFR among the groups (71mL/min/1.73m2 vs 83mL/min/1.73m2 in PKD1 vs 93mL/min/1.73m2 in PKD2, p=0.15). However, TKV was smaller in the patients with COL4A variants (523 mL [IQR 318,817] vs 1,252 mL [744,1,966] in PKD1 vs 811 mL [511 vs 1522] in PKD2, p<0.001). The cyst distribution was mainly in the renal medulla among COL4A variants compared to those with PKD1 or PKD2. In conclusion, our study demonstrated the clinical characteristics of the PKD patients with COL4A variants. Although renal function was comparable to other genotypes, smaller kidneys were notable. Whether the patients with COL4A variants demonstrate faster decline of renal function should be elucidated further.
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