Background: Autosomal dominant polycystic kidney disease (ADPKD) occurs in 1 in 500–4000 people worldwide. Genetic mutation is a biomarker for predicting renal dysfunction in patients with ADPKD. In this study, we performed a genetic analysis of Japanese patients with ADPKD to investigate the prognostic utility of genetic mutations in predicting renal function outcomes. Methods: Patients clinically diagnosed with ADPKD underwent a panel genetic test for germline mutations in PKD1 and PKD2. This study was conducted with the approval of the Ethics Committee of Juntendo University (no. 2019107). Results: Of 436 patients, 366 (83.9%) had genetic mutations. Notably, patients with PKD1 mutation had a significantly decreased ΔeGFR/year compared to patients with PKD2 mutation, indicating a progression of renal dysfunction (−3.50 vs. −2.04 mL/min/1.73 m²/year, p = 0.066). Furthermore, PKD1 truncated mutations had a significantly decreased ΔeGFR/year compared to PKD1 non-truncated mutations in the population aged over 65 years (−6.56 vs. −2.16 mL/min/1.73 m²/year, p = 0.049). Multivariate analysis showed that PKD1 mutation was a more significant risk factor than PKD2 mutation (odds ratio, 1.81; 95% confidence interval, 1.11–3.16; p = 0.020). Conclusions: The analysis of germline mutations can predict renal prognosis in Japanese patients with ADPKD, and PKD1 mutation is a biomarker of ADPKD.

Background Inflammation-based biomarkers may refine prognostic stratification in patients with metastatic renal cell carcinoma (mRCC). This study evaluated the prognostic value of the pretreatment C-reactive protein-to-albumin ratio (CAR) and systemic immune-inflammation index (SII) in patients with mRCC receiving first-line systemic therapy. Methods We retrospectively analyzed 117 patients who received first-line systemic therapy between January 2001 and April 2022. Pretreatment CAR and SII were evaluated as readily available blood-based inflammatory biomarkers. Overall survival (OS) was defined as the primary outcome, and progression-free survival (PFS) was defined as the secondary outcome. Exploratory cutoffs were CAR 0.0731 and SII 533.81. Results High CAR and high SII were independently associated with shorter OS after adjustment for IMDC risk classification and nephrectomy status. The adjusted HRs were 2.36 for high CAR (95% CI, 1.30–4.27; p = 0.005) and 2.58 for high SII (95% CI, 1.42–4.69; p = 0.002). Patients with concurrent elevation of both CAR and SII had the shortest OS compared with those with neither marker elevated (HR, 6.39; 95% CI, 2.76–14.77; p < 0.001). Adding CAR and SII to International Metastatic Renal Cell Carcinoma Database Consortium (IMDC) improved the optimism-corrected C-index for OS from 0.641 to 0.733. Conclusions Pretreatment CAR and SII were associated with OS in patients with mRCC receiving first-line systemic therapy. These readily available biomarkers may help refine OS risk assessment when used alongside established clinical factors, but external validation is required before clinical implementation.

Background Inflammation-based biomarkers may refine prognostic stratification in patients with metastatic renal cell carcinoma (mRCC). This study evaluated the prognostic value of the pretreatment C-reactive protein-to-albumin ratio (CAR) and systemic immune-inflammation index (SII) in patients with mRCC receiving first-line systemic therapy. Methods We retrospectively analyzed 117 patients who received first-line systemic therapy between January 2001 and April 2022. Pretreatment CAR and SII were evaluated as readily available blood-based inflammatory biomarkers. Overall survival (OS) was defined as the primary outcome, and progression-free survival (PFS) was defined as the secondary outcome. Exploratory cutoffs were CAR 0.0731 and SII 533.81. Results High CAR and high SII were independently associated with shorter OS after adjustment for IMDC risk classification and nephrectomy status. The adjusted HRs were 2.36 for high CAR (95% CI, 1.30–4.27; p = 0.005) and 2.58 for high SII (95% CI, 1.42–4.69; p = 0.002). Patients with concurrent elevation of both CAR and SII had the shortest OS compared with those with neither marker elevated (HR, 6.39; 95% CI, 2.76–14.77; p < 0.001). Adding CAR and SII to International Metastatic Renal Cell Carcinoma Database Consortium (IMDC) improved the optimism-corrected C-index for OS from 0.641 to 0.733. Conclusions Pretreatment CAR and SII were associated with OS in patients with mRCC receiving first-line systemic therapy. These readily available biomarkers may help refine OS risk assessment when used alongside established clinical factors, but external validation is required before clinical implementation.

Background Inflammation-based biomarkers may refine prognostic stratification in patients with metastatic renal cell carcinoma (mRCC). This study evaluated the prognostic value of the pretreatment C-reactive protein-to-albumin ratio (CAR) and systemic immune-inflammation index (SII) in patients with mRCC receiving first-line systemic therapy. Methods We retrospectively analyzed 117 patients who received first-line systemic therapy between January 2001 and April 2022. Pretreatment CAR and SII were evaluated as readily available blood-based inflammatory biomarkers. Overall survival (OS) was defined as the primary outcome, and progression-free survival (PFS) was defined as the secondary outcome. Exploratory cutoffs were CAR 0.0731 and SII 533.81. Results High CAR and high SII were independently associated with shorter OS after adjustment for IMDC risk classification and nephrectomy status. The adjusted HRs were 2.36 for high CAR (95% CI, 1.30–4.27; p = 0.005) and 2.58 for high SII (95% CI, 1.42–4.69; p = 0.002). Patients with concurrent elevation of both CAR and SII had the shortest OS compared with those with neither marker elevated (HR, 6.39; 95% CI, 2.76–14.77; p < 0.001). Adding CAR and SII to International Metastatic Renal Cell Carcinoma Database Consortium (IMDC) improved the optimism-corrected C-index for OS from 0.641 to 0.733. Conclusions Pretreatment CAR and SII were associated with OS in patients with mRCC receiving first-line systemic therapy. These readily available biomarkers may help refine OS risk assessment when used alongside established clinical factors, but external validation is required before clinical implementation.

Background: Inflammation-based biomarkers may refine prognostic stratification in patients with metastatic renal cell carcinoma (mRCC). This study evaluated the prognostic value of the pretreatment C-reactive protein-to-albumin ratio (CAR) and systemic immune-inflammation index (SII) in patients with mRCC receiving first-line systemic therapy. Methods: We retrospectively analyzed 117 patients who received first-line systemic therapy between January 2001 and April 2022. Pretreatment CAR and SII were evaluated as readily available blood-based inflammatory biomarkers. Overall survival (OS) was defined as the primary outcome, and progression-free survival (PFS) was defined as the secondary outcome. Exploratory cutoffs were CAR 0.0731 and SII 533.81. Results: High CAR and high SII were independently associated with shorter OS after adjustment for IMDC risk classification and nephrectomy status. The adjusted HRs were 2.36 for high CAR (95% CI, 1.30–4.27; p = 0.005) and 2.58 for high SII (95% CI, 1.42–4.69; p = 0.002). Patients with concurrent elevation of both CAR and SII had the shortest OS compared with those with neither marker elevated (HR, 6.39; 95% CI, 2.76–14.77; p < 0.001). Adding CAR and SII to International Metastatic Renal Cell Carcinoma Database Consortium (IMDC) improved the optimism-corrected C-index for OS from 0.641 to 0.733. Conclusions: Pretreatment CAR and SII were associated with OS in patients with mRCC receiving first-line systemic therapy. These readily available biomarkers may help refine OS risk assessment when used alongside established clinical factors, but external validation is required before clinical implementation.