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Please prepare and upload your E-Poster no later than March 14, 2026 11.59PM CET. After this date, you will no longer be able to prepare and upload your E-poster and it will not be displayed and accessible on the congress website.
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Abstract titles should be brief and reflect the content of the abstract.
In patients with autosomal dominant polycystic kidney disease (ADPKD), intracranial aneurysms (ICAs) have been reported in 9–19% of patients, corresponding to approximately a sevenfold higher risk than in the general population. Known risk factors include a family history of subarachnoid hemorrhage or ICA, a history of smoking, and the PKD1 genotype.
Recently, several minor ADPKD-associated genes, including ALG5, ALG9, DNAJB11, GANAB, IFT140, NEK8, ALG6, ALG8, and PKHD1, have been identified. However, most previous studies investigating the association between ADPKD and ICAs have focused on the major ADPKD genes, PKD1 and PKD2, whereas reports involving these minor genes remain limited.
We included 98 patients with polycystic kidney disease (PKD) who had no apparent family history and underwent genetic testing in collaboration with the Institute of Science Tokyo (Targeted next-generation sequencing was performed using panels of 69–530 genes associated with cystic or chronic kidney disease). All patients were evaluated between January 2017 and September 2025 at Toranomon Hospital and Toranomon Hospital Kajigaya.
Patients were categorized into six genotype groups (PKD1, PKD2, IFT140, PKHD1, and others), and the relationships among genotype, clinical characteristics, and the presence of intracranial aneurysms (ICAs) were analyzed. For patients with ICAs, the reference date was defined as the date on which the aneurysm was first detected by brain MRI. For those without ICAs, the reference date was defined as the date of their most recent brain MRI. An ICA was defined as a lesion measuring ≥2 mm in diameter.
Six patients were excluded (two with nephronophthisis, two with autosomal recessive polycystic kidney disease (ARPKD), one with oral-facial-digital syndrome type 1, and one with tuberous sclerosis complex). Among the remaining 92 patients, 43 were classified as ADPKD-PKD1, 19 as ADPKD-PKD2, 4 as ADPKD-IFT140, 1 as ADPKD-ALG6, 3 as ADPKD-PKHD1, and 22 as “Other” (Table 1).
In the PKD1 group, the median age was 53 years (IQR 44–63), and 10 patients required kidney replacement therapy (KRT). The median total kidney volume (TKV) was 1651 mL (IQR 729–2692), and 9 patients (21%) had concomitant ICAs.
In the PKD2 group, the median age was 57 years (IQR 51–71); 3 patients required KRT, the median TKV was 1316 mL (IQR 457–3109), and one patient had an ICA.
In the IFT140 group, the median age was 63 years (IQR 52–78), none required KRT, and kidney function was preserved (median eGFR 52 mL/min/1.73 m²). Despite this, the median TKV was large (3169 mL; IQR 1022–5501), and 2 patients (50%) had concomitant ICAs.
In the PKHD1 group, the median age was 61 years (IQR 43–62), none required KRT, the median TKV was 291 mL (IQR 271–1191), and one patient had an ICA.
Two additional patients in the “Other” group also had ICAs.
In a cohort of ADPKD patients without an apparent family history, investigation of the relationship between genotype and ICAs suggested that ADPKD associated not only with PKD1 but also with IFT140 or PKHD1 variants may have a high prevalence of ICAs.
These findings indicate that screening for ICAs is important even in ADPKD patients without a family history or detectable pathogenic variants in PKD1 or PKD2.
