Urolithiasis最新文献

Primary hyperoxaluria (PH) is a rare autosomal recessive disorder characterized by an abnormal increase in urinary oxalate excretion. Primary hyperoxaluria type 1 (PH1), the most common PH subtype, is caused by a deficiency of the liver-specific enzyme alanine:glyoxylate aminotransferase, which is localized to peroxisomes. In Japan, the status of PH1 has not been studied in two decades, and few longitudinal studies of PH1 patients have been conducted worldwide. This study aims to analyze the present situation regarding PH1 in Japan. We conducted a literature review of PH1 cases reported in Japan between 2003 and 2023. Twenty patients were diagnosed with PH1 during the study period, including 7 males, 12 females, and 1 patient with an unspecified sex. The median ages at symptom onset and diagnosis were 4.21 years (range: 0.17-47) and 5.5 years (range: 0.17-43), respectively. Ten patients (50%) were diagnosed before age 18, four (44%) of whom had already progressed to end-stage renal disease (ESRD). Among the six patients diagnosed after 18 years, all had ESRD or progressed to ESRD soon after diagnosis. The overall survival (OS) rate was 81% at 5, 10 and 20 years post-diagnosis. The mean observation period was 5.62 years (range: 0-32.6). Few longitudinal studies on PH1 patients have been conducted in Japan or worldwide. Over the past 20 years, the median ages at both symptom onset and diagnosis have significantly decreased, and the OS rate has increased. Early diagnosis and intervention may contribute to better outcomes for PH1 patients in Japan.

Percutaneous nephrolithotomy (PCNL) is the gold-standard treatment for large renal and upper ureteral stones. Continuous irrigation is essential for visualization, thermal control, and fragment clearance but carries risks such as hypothermia, electrolyte imbalance, elevated intrarenal pressure, and infection. This review summarizes current evidence on irrigation strategies during PCNL and provides recommendations to mitigate these risks. A systematic literature search was conducted for English-language full-text articles published up to January 2025, using terms related to PCNL and irrigation. Eligible designs included randomized controlled trials, cohort studies, case-control studies, and case series. Reviews, editorials, and duplicates were excluded. A total of 553 abstracts were screened by a single reviewer, with 28 studies meeting inclusion criteria. Reference lists were hand-searched for additional sources. Evidence highlights multiple determinants of irrigation safety and efficacy. Distilled water and other hypotonic solutions were associated with electrolyte shifts, whereas saline maintained stability. Additives such as tranexamic acid reduced intraoperative blood loss, transfusion rates, and hospital stay without added complications, while povidone-iodine or antibiotic irrigation showed promise in reducing postoperative fever and sepsis. Warmed irrigation fluid mitigated hypothermia but raised concerns of bleeding and thermal injury. Excessive irrigation volume and prolonged operative duration consistently correlated with greater systemic absorption, hemodynamic instability, and electrolyte changes. Irrigation parameters directly influence perioperative safety and outcomes in PCNL. Although isotonic saline remains the standard, antifibrinolytic and antimicrobial additives, individualized temperature management, and optimized volume control represent promising strategies.