Autosomal dominant polycystic kidney disease (ADPKD) patients with PKD1 mutations, particularly those with truncating mutations, show poor prognosis. However, the differences in disease progression with different mutation types are unclear. Here, a comparative study was conducted on the renal prognosis of patients with ADPKD who were categorized based on genotype (PKD1 versus PKD2 mutation), mutation type (truncating mutation: nonsense, frameshift, splicing mutation, and large deletion; non-truncating mutation: substitution and in-frame deletion), and mutation position. A total of 123 patients visiting our hospital were enrolled. Renal prognosis was poor for those with PKD1 splicing, PKD1 frameshift, and PKD2 splicing mutations. Despite the truncating mutation, the renal prognosis was relatively favorable for patients with nonsense mutations. Three out of five patients with PKD2 mutation required renal replacement therapy before 58 years of age. In conclusion, we showed that renal prognosis differs according to mutation types in both PKD1 and PKD2, and that it was favorable for those with nonsense mutations among patients with PKD1 truncating mutations. It was also confirmed that renal prognosis was not always favorable in patients with PKD2 mutations. A detailed assessment of mutation types may be useful for predicting the renal prognosis of patients with ADPKD.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary cystic kidney disease, with patients often having a positive family history that is characterized by a similar phenotype. However, in atypical cases, particularly those in which family history is unclear, a differential diagnosis between ADPKD and other cystic kidney diseases is important. When diagnosing ADPKD, cystic kidney diseases that can easily be excluded using clinical information include: multiple simple renal cysts, acquired cystic kidney disease (ACKD), multilocular renal cyst/multilocular cystic nephroma/polycystic nephroma, multicystic kidney/multicystic dysplastic kidney (MCDK), and unilateral renal cystic disease (URCD). However, there are other cystic kidney diseases that usually require genetic testing, or another means of supplementing clinical information to enable a differential diagnosis of ADPKD. These include autosomal recessive polycystic kidney disease (ARPKD), autosomal dominant tubulointerstitial kidney disease (ADTKD), nephronophthisis (NPH), oral-facial-digital (OFD) syndrome type 1, and neoplastic cystic kidney disease, such as tuberous sclerosis (TSC) and Von Hippel-Lindau (VHL) syndrome. To help physicians evaluate cystic kidney diseases, this article provides a review of cystic kidney diseases for which a differential diagnosis is required for ADPKD.

The progression of immunoglobulin A nephropathy (IgAN) is currently assessed using the Oxford MEST-C score, which uses five indicators (mesangial and endocapillary hypercellularity, segmental sclerosis, interstitial fibrosis/tubular atrophy, and the presence of crescents) but has not yet included any risk factors related to glomerular size. Therefore, we tested whether adding another indicator, maximal glomerular diameter (Max GD), would improve the prognostic ability of this scoring system. The data of 101 adult patients diagnosed with IgAN between March 2002 and September 2004 were reviewed. We used McFadden’s pseudo-R² and the corrected Akaike information criterion to assess model fit and the concordance (C)-statistic to assess discriminatory ability. A 10 μm increase in Max GD was significantly associated with a composite outcome (≥50% decline in the estimated glomerular filtration rate or end-stage renal disease). The receiver operating characteristic analysis determined the cut-off for high vs. low Max GD at 245.9 μm, and adding high Max GD to the MEST-C score significantly improved the model’s discrimination of renal outcomes at 5 and ≥10 years. Thus, including the Max GD in the Oxford classification of IgAN might increase its robustness and provide a more comprehensive prognostic system for clinical settings.

Introduction: Though disease-related differences between the sexes have increasingly attracted attention, the renal impact of pulse pressure (PP) in patients with chronic kidney disease (CKD) has never been investigated comprehensively in relation to differences associated with sex. We aimed to examine sex differences in PP as a related factor of CKD progression from the perspective of atherosclerosis. Methods: A total of 156 patients with CKD matched according to age and estimated glomerular filtration rate (eGFR) were separated into sex-based cohorts. Multivariate Cox proportional hazards analyses were performed to identify factors associated with renal outcomes. Kaplan–Meier analyses were performed to assess disease progression, which was defined as a ≥50% estimated glomerular filtration rate (eGFR) decline or end-stage renal disease. Results: The mean age of the study participants was 58.9 ± 13.1 years, and the median follow-up period was 114.0 months. A multivariate Cox regression analysis showed that PP was significantly associated with disease progression among the entire cohort (p = 0.007). In the sex-based sub-cohort analyses, PP was significantly associated with disease progression in men (p = 0.0004) but not in women. Among the entire cohort, PP was correlated positively with age (p = 0.03) and negatively with high-density lipoprotein-cholesterol (HDL-C) level (p = 0.003). PP was significantly correlated with visceral fat area (VFA) (p = 0.04) and hemoglobin level (p = 0.04) in men and with HDL-C level (p = 0.003) in women. Conclusion: A high PP is a significant related factor of CKD progression, especially in men, in whom it is significantly associated with greater VFA and lower hemoglobin level.

Studies on sex differences in time-series changes in pseudo-R² values regarding hyperuricemia (HU) in relation to the kidney prognosis among patients with chronic kidney disease (CKD) are scant. The kidney prognosis was evaluated in 200 patients with CKD (median follow-up, 12.3 years). Survival analyses and logistic regression analyses were conducted, generating time-series pseudo-R² values. We used four definitions of HU according to serum uric acid (SUA) levels (HU6, SUA ≥ 6.0 mg/dL; HU7, SUA ≥ 7.0 mg/dL; HU8, SUA ≥ 8.0 mg/dL) and antihyperuricemic agent use to calculate the mean and percentage of the change in pseudo-R² values from the 6th year until the end of the study (6Y–End Mean and 6Y–End Change, respectively). The multivariable Cox regression analysis showed that HU7 was significantly associated with kidney outcomes. When stratified by sex, the 6Y–End Mean was clearly higher in women than in men for all HU definitions, with the highest value (0.1755) obtained for HU7 in women. The pseudo-R² values for HU6 in women showed an increasing pattern, with a 6Y–End Change of 11.4%/year. Thus, it may be clinically meaningful to consider sex differences in the time-series pseudo-R² values regarding HU and kidney outcomes.

Background: Serum phosphate levels, which are associated with the progression of renal dysfunction in chronic kidney disease, in patients with autosomal dominant polycystic kidney disease (ADPKD) are lower than those in patients with other kidney diseases. However, their role in ADPKD remains unclear. This study aimed to determine whether serum phosphate levels could have an association with renal prognoses among patients with ADPKD. Methods: In total, 55 patients with PKD1 or PKD2 mutations but not undergoing dialysis were evaluated. Data regarding serum phosphate levels were collected, and Cox regression analyses were used to calculate hazard ratios (HRs) with renal replacement therapy as the endpoint. Results: The median (quartile 1; quartile 3) serum phosphate concentration was 3.4 (3.1; 3.9) mg/dL, and the estimated glomerular filtration rate (eGFR) was 39.5 (17.6; 65.7) mL/min/1.73 m². The multivariate analysis that included age, PKD1 mutation, eGFR, urinary protein excretion, hyperuricemia, and serum phosphate determined that eGFR (HR, 0.82; 95% confidence interval (CI), 0.74–0.90; p < 0.0001) and serum phosphate (HR, 6.78; 95% CI, 1.94–34.02; p = 0.0021) were independently associated with renal replacement therapy. Conclusions: We found that serum phosphate levels were significantly associated with poor renal prognoses in patients with ADPKD.