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

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

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

METHODS

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.

RESULTS

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%).

CONCLUSION

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.

Identification (psychology) ; Cross-sectional Studies ; Diabetes Mellitus, Type 2 ; Diabetes Complications ; Kidney Diseases

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.

OBJECTIVE

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

METHODS

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.

RESULTS

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.

CONCLUSION

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.

Human ; Staghorn Calculi ; Nephrolithotomy, Percutaneous ; Kidney Calculi ; Hydronephrosis

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.

Human ; Angiomyolipoma ; Kidney Neoplasms ; Immunohistochemistry

OBJECTIVE: To explore the genetic characteristics of a fetus affected with Structural heart defects and renal anomalies syndrome (SHDRA). METHODS: A pedigree with SHDRA (fetus and the parents) who had visited the Affiliated Women and Children's Hospital of Ningbo University in April 2023 was selected as the study subject. Clinical data of the family were collected. A total of 10 mL of amniotic fluid cells from the fetus and 5 mL of peripheral blood samples from the parents were collected for genomic DNA extraction. Trio whole-exome sequencing (Trio-WES) was performed, and Sanger sequencing was used to validate candidate variants in the family. The identified variants were classified according to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the "ACMG Guidelines). Relevant research literature on SHDRA in domestic and international databases were searched for literature review. This study was approved by the Affiliated Women and Children's Hospital of Ningbo University (Ethics No. EC2023-094). RESULTS: In this family, prenatal ultrasound at 18 weeks of gestation revealed left renal multicystic dysplasia in the fetus. After birth, the infant exhibited an ostium secundum atrial septal defect, patent ductus arteriosus, and left renal multicystic dysplasia. Trio-WES revealed that the fetus had carried c.344dup (p.L116Afs*32) and c.90_104dup (p.Ala31_Ala35dup) compound heterozygous variants in the TMEM260 gene, which were respectively inherited from its father and mother. According to the ACMG guidelines, the c.344dup (p.L116Afs*32) and c.90_104dup (p.Ala31_Ala35dup) variants were classified as pathogenic (PM2_Supporting+PVS1+PP4) and likely pathogenic (PM2_Supporting+PM4+PM3+PP4), respectively. According to the literature search strategy set for this study, a total of 6 literature was retrieved, involving 25 SHDRA patients from 20 families. Together with the patients in this study, there were 14 TMEM260 gene variants, most of which were frameshift variants (7 types) and had located in exons 3, 11 and 13. The main clinical features of SHDRA were congenital heart malformation, renal abnormality and neurodevelopmental abnormality, and there was a lack of genotype-phenotype correlation. CONCLUSION The c.344dup (p.L116Afs*32) and c.90_104dup (p.Ala31_Ala35dup) variants of the TMEM260 gene probably underlay the SHDRA in this family. Above finding has provided a basis for clinical diagnosis and genetic counseling for the family.
Humans ; Female ; Pedigree ; Membrane Proteins/genetics* ; Male ; Heart Defects, Congenital/genetics* ; Kidney/abnormalities* ; Pregnancy ; Adult ; Kidney Diseases/congenital* ; Exome Sequencing ; Mutation ; Genetic Testing

OBJECTIVE: To explore the genetic etiology of a Chinese pedigree with recurrent Joubert syndrome with negative results by whole-exome sequencing in the prior proband. METHODS: Chinese pedigree which opted elective abortion at the Women and Children's Hospital Affiliated to Chongqing Medical University in December 2024 was selected as the study subject. Whole-genome sequencing was carried out on fetal tissue after termination of pregnancy. Candidate variants were validated by Sanger sequencing and interpreted, while non-coding variant was analyzed using in silico prediction tools. RNA sequencing and cDNA sequencing were conducted on fetal brain tissue. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.2024YL045-02). RESULTS: Both the fetus and the affected child were found to harbor compound heterozygous variants of the CEP290 gene, namely c.7341dup (p.Leu2448fs*8) (pathogenic, maternally inherited) and c.1523-408G>A (likely pathogenic, paternally inherited). Both in silico analysis and fetal brain RNA sequencing confirmed aberrant RNA splicing caused by the intronic variant. CONCLUSION This case has highlighted the value of combining whole-genome sequencing with RNA functional validation. Above results not only enriched the spectrum of CEP290 gene mutations but also underscored its diagnostic value in resolving complex prenatal cases, providing critical clues for the prenatal diagnosis and recurrence risk assessment in genetic counseling.
Female ; Humans ; Pregnancy ; Abnormalities, Multiple/genetics* ; Antigens, Neoplasm/genetics* ; Cell Cycle Proteins/genetics* ; Cerebellum/abnormalities* ; Cytoskeletal Proteins/genetics* ; Eye Abnormalities/genetics* ; Introns/genetics* ; Kidney Diseases, Cystic/diagnosis* ; Pedigree ; Retina/abnormalities* ; Sequence Analysis, RNA/methods* ; Whole Genome Sequencing/methods* ; Child

This paper discusses the diagnostic and therapeutic approach to a patient with concomittant serious clinical conditions such as bilateral nephrolithiasis, and possible dual primary malignancies of the kidney and the urinary bladder.

A 62-year-old male presented with gross hematuria. Radiographic imaging revealed a large urinary bladder mass, bilateral hydronephrosis due to obstructive nephrolithiases, and a left solid renal mass. After appropriate cardiopulmonary optimization, the authors opted to do a preliminary transurethral resection of the bladder tumor. This was followed by staged therapies with right ultrasound-guided PCNL; a left partial nephrectomy with nephrolithotomy, and radical cystectomy with ileal conduit. Unfortunately, the patient did not survive the multiple surgeries and expired. The chronology of the various therapeutic procedures in cases of synchronous serious clinical conditions of the urinary tract such as nephrolithiasis, renal and bladder neoplasms need to be individualized and will dictate the outcome of the entire therapy.

Human ; Male ; Nephrolithiasis ; Xanthogranulomatous ; Pyelonephritis ; Muscle-invasive Urothelial ; Carcinoma

The most common cause of mortality after a kidney transplant is a cardiovascular event. This is why most patients with poor cardiovascular status are denied a transplant. A 70-year-old male, ESRD from hypertensive nephropathy, was declined renal transplantation in the United States for advanced age, severe coronary disease and abdominal aortic aneurysm. The patient sought a second chance at a possible transplantation here in the Philippines. After a comprehensive cardiovascular evaluation, he underwent coronary artery bypass graft for a three-vessel disease followed by endovascular aneurysm repair (EVAR) which he tolerated well. After four weeks, he underwent a living-related kidney transplantation with immediate allograft function. On postoperative day 5, after catheter removal, the patient was unable to void spontaneously. He was diagnosed with benign prostatic obstruction and underwent transurethral resection of the prostate. He tolerated this and voided freely since catheter removal. One year later, the patient has a functioning allograft and stable cardiac status. High risk patients with cardiovascular disease may be given a chance at kidney transplantation after a meticulous evaluation and optimization.

Human ; Male ; Aged: 65-79 Yrs Old ; Evar ; Allografts ; Aneurysm ; Aortic Aneurysm ; Aortic Aneurysm, Abdominal ; Arteries ; Cardiovascular Diseases ; Catheters ; Coronary Artery Bypass ; Disease ; Coronary Disease ; Endovascular Aneurysm Repair ; Evaluation Studies As Topic ; Kidney ; Kidney Failure, Chronic ; Kidney Transplantation ; Male ; Mortality ; Patients ; Philippines ; Prostate ; Risk ; Transplantation ; Transplants ; United States