Polycystic kidney disease (PKD) is a group of inherited disorders characterized by cystic lesions in the kidneys and multiple organs, primarily including autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). ADPKD is mainly caused by variations in the PKD1 and PKD2 genes. Its clinical manifestations include progressive renal cyst growth, hypertension, and multi-system complications. ARPKD, on the other hand, is primarily caused by mutations in the PKHD1 gene. It commonly occurs in infants and young children, with hepatorenal cystic fibrosis being a key feature. Although there is currently no cure for PKD, the integration of multi-omics and precision medicine strategies holds promise for optimizing patient management and improving outcomes in the future. This review summarizes the genetic basis, pathogenic mechanisms, diagnostic techniques, and therapeutic advances in PKD, providing a reference for clinical practice and research.
Humans ; Polycystic Kidney Diseases/genetics* ; TRPP Cation Channels/genetics* ; Mutation ; Polycystic Kidney, Autosomal Dominant/therapy* ; Receptors, Cell Surface

OBJECTIVES

In the past decade, the prevalence of diabetes in the Philippines has been increasing. The prevalence of diabetes is 7.1% and it is the sixth leading cause of death among adults. Preventive measures to address the incidence of diabetes, as well as diabetes-related complications, have been in place. However, knowledge of the risk factors for developing cardiovascular or renal-related Type 2 Diabetes Mellitus (T2DM) complications has numerous benefits for T2DM patients. This study aimed to describe common risk factors among Filipino T2D patients which increase their risk of developing cardiorenal complications including Heart Failure and CKD. Furthermore, the study aimed to assess the
awareness of T2DM patients regarding these risk factors

A clinic-based cross-sectional survey among Filipinos with T2DM Philippines was conducted in the different regions in the Philippines from April 2021 to January 2022. The study participants were 16,268 patients of various ages and sex, however, only 11,578 of them answered the form completely. The patients and their corresponding physicians answered a validated self-assessment form on whether they had 8 identified risk factors for T2DM.

This survey identified Hypertension as the most common risk factor present in 96.49% of T2DM patients followed by Dyslipidemia (82.56%), Family History of CVD (77.11%), Obesity (59.66%), Kidney Disease (38.08%), Personal History of CVD (36.22%), Smoking (35.49%) and Family History of Kidney Disease (33.05%). Most patients were aware of the presence of these risk factors. However, there were some identified by the physician but unknown to the patient. In decreasing order of frequency, these were personal history of heart and blood vessel diseases (7.19%), followed by family history of kidney disease (5.44%) and smoking (5.1%).

This survey was able to identify crucial risk factors in developing T2DM complications that are most common among T2DM patients in the Philippines. Furthermore, for the first time, the study was able to show the level of awareness of T2DM patients regarding the risk factors that they have in developing these complications. These data show the importance of determining and addressing the common risk factors in preventing T2DM complications. Moreover, identification of these risk factors is an important step in prevention of cardiorenal complications.

Abstract Hyperkalemia (serum potassium >5.0 mEq/l) is a significant complication in patients with heart failure, chronic kidney disease, and diabetes mellitus, particularly when treated with renin-angiotensin-aldosterone system inhibitors (RAASi). Both hyperkalemia and RAASi interruption are associated with increased cardiovascular events, hospitalizations, and mortality. This expert opinion document, developed between January and December 2024 through a systematic process, aims to establish guidance for hyperkalemia treatment in Indonesian patients with cardiorenal diseases receiving RAASi therapy, addressing the unique challenges within the Indonesian healthcare context. A comprehensive literature review of international guidelines and regional studies was conducted by a panel of 11 expert specialists (3 cardiologists, 6 internist-nephrologists, and 2 internist-cardiologists), who evaluated 29 statements covering diagnosis, monitoring, prevention, and treatment of hyperkalemia. Of the 29 statements, 26 reached consensus: 17 statements achieved very high agreement (≥90%) and 9 attained high agreement (≥67% – <90%). The agreed statements covered key areas, including potassium monitoring frequency, RAASi dose optimization strategies, dietary modifications, and treatment thresholds. Three statements regarding alternative therapeutic approaches did not receive agreement (<67%) due to limited local availability and cost considerations. Key recommendations include structured monitoring protocols for high-risk patients, strategies for RAASi dose optimization while managing hyperkalemia risk, and specific interventions adapted to local resources. This document provides a practical approach for managing hyperkalemia in Indonesian patients with cardiorenal diseases while maintaining optimal RAASi therapy, considering local Indonesian healthcare resources and constraints.
Hyperkalemia ; Cardio-Renal Syndrome ; Renin-Angiotensin System ; Indonesia

BACKGROUND

Staghorn calculi are complicated renal stones that are frequently linked to hydronephrosis, a parameter that can have a major impact on the results of surgery. Percutaneous nephrolithotomy (PCNL) is widely recognized as the gold standard for treating large kidney stones and staghorn calculi. Data on the effect of preoperative hydronephrosis on PCNL perioperative outcomes is still limited.

This study aimed to investigate the association between preoperative hydronephrosis and perioperative outcomes among patients undergoing PCNL in a tertiary government hospital in Manila.

A single-center prospective cohort study was conducted, involving 90 patients diagnosed with staghorn calculi and scheduled for elective PCNL. Patients were categorized into two groups based on the presence or absence of moderate-to-severe hydronephrosis as determined by preoperative imaging. Perioperative outcomes, including total operative time, access time, lithotripsy time, and perioperative complications such as bleeding and sepsis, were evaluated. Data were analyzed using linear and logistic regression models to assess associations between hydronephrosis and perioperative outcomes.

The presence of hydronephrosis was associated with a statistically significant reduction in access time (p = 0.036), likely due to the dilation of renal structures facilitating easier entry. However, hydronephrosis was linked to a borderline significant reduction in lithotripsy rate (p = 0.051), indicating potential challenges in stone fragmentation. No significant association was found between hydronephrosis and total operative time or perioperative complications, such as bleeding and sepsis.

While hydronephrosis may make kidney access and other technical aspects of PCNL easier, it may also make stone fragmentation more difficult. Larger stone size and stone location were significant predictors of longer operative times and slower lithotripsy rates, underscoring their critical role in surgical outcomes.

Angiomyolipoma with epithelial cysts (AMLEC) is a rare subtype of angiomyolipoma that may closely mimic both malignant and benign neoplasms. We report a case of AMLEC in an 18-year-old female presenting with acute flank pain and radiologic suspicion for malignancy. This case highlights the diagnostic challenges posed by AMLEC, emphasizes its characteristic histopathologic and immunohistochemical features, and reviews current concepts regarding its pathogenesis. This case represents the first documented case of AMLEC in the Philippines.

Introduction: X-linked hypophosphatemia (XLH) is a rare genetic disorder caused by PHEX mutations, characterized by chronic hypophosphatemia and renal phosphate wasting, resulting in skeletal, dental, and extra-skeletal complications. To date, no data from Malaysia are currently available on clinical characteristics or health-related quality of life (HRQoL) in paediatric patients. Methodology: This cross-sectional study evaluated HRQoL among children and adolescents with XLH, using validated PROMIS (PatientReported Outcomes Measurement Information System) instruments, sociodemographic and clinical factors associated with HRQoL. This includes children and adolescents with confirmed XLH followed up at Universiti Malaya Medical Centre (UMMC) between November 2024 and March 2025. Results: Seventeen patients were analyzed (76.5% female and 23.5% male). The mean age at symptom onset was 2.82 ± 2.42 years, with a mean age at diagnosis of 5.21 ± 3.29 years. All patients continued to have musculoskeletal complications, including short stature (76.5%), bowing of legs (76.5%), bone/joint pain (47.1%), muscle pain (47.1%), and dental complications (52.9%). Serum alkaline phosphatase improved significantly (p = 0.011); persistent hypophosphatemia and ongoing musculoskeletal manifestations indicated suboptimal disease control. Elevated parathyroid hormone levels and an increase in urine calciumto-creatinine ratio (p = 0.020) lead to secondary hyperparathyroidism and nephrocalcinosis. Adherence to conventional therapy was poor. Non-adherence was associated with worse pain outcomes (higher pain interference [p = 0.037] and greater pain intensity [p = 0.025]). PROMIS scores revealed severely impaired mobility (mean T-score 31.31 ± 12.17), increased fatigue (mean T-score 54.22 ± 7.60), and high pain interference (mean T-score 63.11 ± 9.50). Larger household size was also strongly associated with higher pain intensity (p = 0.004). Conclusion Malaysian children and adolescents with XLH continue to have significantly poor HRQoL, particularly in mobility, fatigue, and pain. These findings highlight the need for access to targeted therapies, such as burosumab, to improve long-term outcomes and QOL in XLH patients.
Adolescent ; Child ; Familial Hypophosphatemic Rickets ; Malaysia ; Quality of Life

OBJECTIVES

Diabetic ketoacidosis (DKA) is the most common initial presentation in children with newly diagnosed type 1 diabetes. Severe dehydration/acidosis, shock at admission, and hyperchloremia contribute to acute kidney injury (AKI). This retrospective study was done to determine the proportion of children hospitalized for DKA who had AKI and to compare clinical parameters between children with DKA and with AKI and without AKI to identify the risk factors associated with AKI.

A retrospective review of all DKA admissions with type 1 diabetes was done. AKI was diagnosed as per KDIGO-2012 criteria. The analysis was done using a Chi-square test to assess the association between the status of AKI and other parameters. The Independent t-test was applied for comparison with the mean score between the No AKI / AKI group for numerical variables with normal distribution. A multivariable logistic regression analysis was performed to compare clinical parameters between both groups.

Out of 32 children with DKA, 13 (40.63%) developed AKI. Among them, 9 had AKI at admission and 4 children developed AKI within the first 48 hours of admission. Optimum fluid management resolved AKI in 10 patients, but 3 of them required dialysis. Parameters like higher heart rate (p = 0.0390), higher respiratory rate (p = 0.0402), high leukocyte count (p = 0.0005), severe hyperglycemia (p = 0.0204), severe acidosis (p = 0.0001), hyperchloremia (p = 0.016) and shock at admission (p = 0.0001) were present in children with DKA and AKI.

In our study, a high proportion of children with DKA had AKI, which causes prolonged acidosis and hospital stay. Hence, comparing clinical parameters between both groups helps in identifying risk factors associated with AKI in persons with type 1 diabetes with DKA.

OBJECTIVES: To analyze the association of CHMP2B expression level of with clinicopathological characteristics and prognosis of clear cell renal cell carcinoma (CRCC) and the possible role of CHMP2B in tumorigenesis and progression of CRCC. METHODS: RNAseq data of CRCC were downloaded from the TCGA database for analysis of CHMP2B expression levels in tumor and adjacent tissues and their correlation with clinicopathological characteristics of the patients. Survival outcomes of the patients with high and low CHMP2B expressions were analyzed using the Kaplan-Meier model, and the COX risk regression model was used for identifying the prognostic factors of the patients. The correlation between CHMP2B expression and immune infiltration, its co-expressed genes, and the effect of CHMP2B gene mutations on immunotherapy responses, and its immunohistochemical expression in CRCC and normal tissues were analyzed. Clinical samples of CRCC were collected to examine CHMP2B expressions using RT-PCR, and cell experiment was carried out to test the effect of CHMP2B overexpression on biological behaviors of CRCC cells. RESULTS: CHMP2B was significantly under-expressed in renal cancer tissues, and its overexpression obviously inhibited the proliferation of CRCC cells in vitro. CHMP2B expression level was significantly correlated with age, gender, lymph node metastasis, and tumor stage, and the patients with low CHMP2B expression had poor survival outcomes. Enrichment and co-expression gene analyses suggested that CHMP2B was mainly involved in viral outgrowth, necrotic apoptosis, endocytosis, and immune-regulatory processes in kidney cancer. CONCLUSIONS CHMP2B is lowly expressed in renal cancer tissues to affect tumor progression and tumor immune processes, and may serve as a prognostic biomarker and therapeutic target for CRCC.
Humans ; Carcinoma, Renal Cell/metabolism* ; Kidney Neoplasms/metabolism* ; Cell Proliferation ; Prognosis ; Cell Line, Tumor ; Male ; Female ; Gene Expression Regulation, Neoplastic

OBJECTIVES: To identify potential molecular targets of quercetin in the treatment of clear cell renal carcinoma (ccRCC). METHODS: The therapeutic targets of quercetin were screened from multiple databases by network pharmacology analysis, and the targets significantly correlated with ccRCC were screened from 4907 plasma proteins using a Mendelian randomization method. The drug-disease network model was constructed to screen the potential key targets. The functions of these targets were evaluated via bioinformatics analysis, and the screened targets were verified in cultured ccRCC cells. RESULTS: Network pharmacology analysis combined with Mendelian randomization identified TP53 (OR=3.325, 95% CI: 1.805-6.124, P=0.0001), ARF4 (OR=0.173, 95% CI: 0.065-0.456, P=0.0003), and DPP4 (OR=0.463, 95% CI: 0.302-0.711, P=0.0004) as the core targets in quercetin treatment of ccRCC. Bioinformatics analysis showed that TP53 was highly expressed in ccRCC, and patients with high TP53 expressions had worse survival outcomes. Molecular docking studies showed that the binding energy between quercetin and TP53 was -5.83 kcal/mol. In cultured 786-O cells, CCK-8 assay and wound healing assay showed that treatment with quercetin significantly inhibited cell proliferation and migration. Quercetin treatment also strongly suppressed the expression of TP53 at both the mRNA and protein levels in 786-O cells as shown by RT-qPCR and Western blotting. CONCLUSIONS TP53 may be the key target of quercetin in the treatment of ccRCC, which sheds light on potential molecular mechanism that mediate the therapeutic effect of quercetin.
Humans ; Quercetin/pharmacology* ; Carcinoma, Renal Cell/genetics* ; Cell Proliferation/drug effects* ; Kidney Neoplasms/genetics* ; Cell Movement/drug effects* ; Tumor Suppressor Protein p53/metabolism* ; Cell Line, Tumor ; Computational Biology

OBJECTIVES: To evaluate the correlation of mean arterial oxygen tension (PaO₂) during the first 24 h following intensive care unit (ICU) admission with mortality in critically ill patients with acute kidney injury (AKI) and determine the optimal PaO₂ threshold for devising oxygen therapy strategies for these patients. METHODS: We collected the clinical data of ICU patients with AKI from the MIMIC-IV database. Based on the optimal first 24-h PaO₂ threshold determined by receiver operating characteristic (ROC) curve analysis and the Youden index maximization principle, we classified the patients into hyperoxia group (with PaO₂ ≥137.029 mmHg) and hypoxemia group (PaO₂<137.029 mm Hg). Multivariable logistic regression and propensity score matching were used to evaluate the correlation of first 24-h PaO₂ levels with in-hospital mortality of the patients. RESULTS: Among the 18 335 patients, 46.7% were in the hyperoxia group, who had an overall mortality rate of 16.9%. The optimal PaO₂ threshold (137.029 mm Hg) had a sensitivity of 78.3%, a specificity of 63.7%, and an AUC of 0.76 (95% CI: 0.74=0.78). Hyperoxia within the first 24 h after ICU admission was associated with a significantly lower in-hospital mortality (OR=0.78) and 90-day mortality (OR=0.77), particularly in stage 1 AKI patients. A non-linear relationship was identified between PaO₂ and mortality of the patients (P<0.001). Kaplan-Meier survival curves indicated a significantly increased 90-day survival rate in the patients in hyperoxia group (P<0.001), who also had shorter durations of mechanical ventilation, less vasopressor use, and shorter lengths of hospital/ICU stay. CONCLUSIONS Maintenance of a PaO₂ level ≥137.029 mmHg within 24 h after ICU admission may improve clinical outcomes of critically ill AKI patients, which underscores the importance of targeted oxygen delivery in ICU care.
Humans ; Acute Kidney Injury/blood* ; Male ; Female ; Middle Aged ; Intensive Care Units ; Aged ; Oxygen/blood* ; Hospital Mortality ; Partial Pressure ; Adult ; Databases, Factual