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

Acute coronary syndrome (ACS) and end-stage renal disease (ESRD) are both prevalent globally. The diagnosis and management of ACS in ESRD is difficult because the interplay of cardiovascular and renal disease is complicated. The guidelines for ACS may not be applicable to the ESRD population because the trials from which these are drawn mostly excluded ESRD patients.

OBJECTIVE

To determine the clinical profile and outcomes of CKD patients on dialysis admitted for ACS in the Philippine General Hospital (PGH).

METHODS

We did a retrospective cohort study and employed a retrospective review of electronic medical records among ESRD patients presenting with ACS in PGH from May 2021 to November 2023. The collected data was analyzed using univariate and bivariate statistics using PRISM software.

RESULTS

A total of 48 patients with ESRD were admitted for ACS in this study – 8 with STEMI and 40 with NSTEMI. The mean age was 61 years old and 33 (68.8%) were male. Among those with STEMI, six (75%) presented with Kilip II or more. While among those with NSTEMI, 17 (42.5%) had a GRACE score >140 and 27 (67.5%) had an NSTEMI TIMI risk score >2. On average, the patients were on hemodialysis for 31 months prior to admission. The most common comorbidities were hypertension (91.7%) and heart failure (83.3%). On admission, 18 (37.5%) presented with SBP >160, 7 (14.6%) patients presented with shock, and 4 (8.3%) patients presented with cardiac arrest. 38 (79.2%) patients had anemia on admission. 21 (43.8%) patients had left ventricular hypertrophy on electrocardiogram while 34 (70.8%) patients had cardiomegaly on chest radiography. The average left ventricular ejection fraction on echocardiogram was 46% and 27 (90%) patients had segmental wall motion abnormalities. The most common angiographic finding was 3-vessel coronary artery disease seen in 50% of patients. Almost all patients received dualantiplatelet therapy, high dose statin, and beta-blocker. The mortality rate was high at 43.8% with cardiovascular causes being the most common cause of death.

CONCLUSION

This study demonstrates the high mortality rate among patients with ESRD presenting with ACS. Our study portrays that patients with ESRD present with higher risk features including abnormalities in vital signs, laboratories, imaging, high prognostications score, and high in-hospital morbidity.

Human ; Kidney Failure, Chronic ; End-stage Renal Disease ; Acute Coronary Syndrome ; Myocardial Infarction

Valacyclovir-associated neurotoxicity (VAN) is a recognized adverse effect in elderly patients with renal impairment but remains underdiagnosed due to its nonspecific presentation and overlap with acute neurologic emergencies. We report a 78-year-old Filipino female with end-stage renal disease on maintenance hemodialysis who developed acute disorientation, agitation, vivid visual hallucinations and generalized weakness shortly after initiation of valacyclovir for herpes zoster. Given the abrupt onset of neuropsychiatric symptoms, viral encephalitis was initially considered. Magnetic resonance imaging of the brain showed no evidence of acute infarction or encephalitis, while electroencephalography demonstrated diffuse generalized slowing consistent with an encephalopathic process. Review of the medication history revealed valacyclovir dosing that exceeded recommendations for patients with end-stage renal disease. Valacyclovir was discontinued and emergent hemodialysis was initiated resulting in marked improvement in sensorium after the second session and complete resolution of symptoms after the third. This case shows VAN as an important diagnostic mimic of acute encephalopathy in elderly patients with renal failure and emphasizes the critical role of early medication review in preventing unnecessary investigations and enabling prompt, reversible management.

Human ; Female ; Aged: 65-79 Yrs Old ; Magnetic Resonance Imaging ; Kidney Failure, Chronic ; Magnetic Resonance Spectroscopy ; Electroencephalography ; Medication Review ; World Health Organization

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

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

OBJECTIVES

To present a rare case of recurrent urethral and intravesical foreign body insertion driven by command hallucinations in schizophrenia, to describe the surgical and psychiatric management strategies employed, and to emphasize the importance of interdisciplinary care and treatment adherence in preventing recurrence.

METHODS

Reported here is the case of a 37-year-old male with schizophrenia who presented with multiple episodes of urethral and intravesical foreign body insertion over a six-year period (2018–2025). Inserted objects included metallic wires, electrical cords, and a LED Christmas light rope, each requiring surgical removal via cystoscopy or open cystotomy. Psychiatric evaluation revealed poor adherence to antipsychotic medication, with recurrent episodes associated with command hallucinations. Psychiatric management was reinitiated with olanzapine and structured follow-up to improve treatment compliance.

RESULTS

Six documented episodes of self-inflicted urethral and intravesical trauma required repeated urologic interventions. Despite recurrent instrumentation and foreign body insertion, serial cystoscopic evaluations demonstrated preserved urethral and bladder integrity without evidence of stricture formation. The most recent episode required open cystotomy for removal of a coiled LED light rope, which was successfully extracted without complications. Following coordinated psychiatric management and improved adherence to antipsychotic therapy, the patient remained asymptomatic and free of recurrence at three months follow-up.

CONCLUSION

This case highlights the unusual preservation of urethral integrity despite recurrent traumatic self-insertion. Effective management requires sustained psychiatric stabilization, multidisciplinary collaboration, and strict treatment adherence. Integration of psychiatric and urologic care is essential to prevent recurrence and improve long-term outcomes in patients with schizophrenia-related self-inflicted genitourinary injury.

Human ; Male ; Adult: 25-44 Yrs Old ; Schizophrenia ; Cystoscopy ; Self-injurious Behavior ; Psychotic Disorders ; Antipsychotic Agents ; Olanzapine ; Constriction, Pathologic ; Hallucinations ; Urinary Bladder ; Foreign Bodies

Introduction: The thyroid-kidney axis represents a clinically significant bidirectional relationship. Nephrotic syndrome (NS) may induce hypothyroidism via urinary hormonal and binding protein losses, while severe hypothyroidism may mimic NS and contribute to renal dysfunction. Cases: A 64-year-old male with gout, presented with facial puffiness, pedal edema, weight gain and frothy urine. Investigations revealed severe hypothyroidism FT4 <0.5 pmol/L (12–22 pmol/L) TSH 314 mIU/L (0.27–4.2 mIU/L) with NS – UPCR 7.7 3 g/L (0.04–0.15 g/L), albumin 22 g/L, total cholesterol 15.9 mmol/L – and renal impairment (eGFR 58 mL/min/1.73 m²). Positive anti-TPO antibodies suggested Hashimoto’s thyroiditis. He was initiated on liothyronine, hydrocortisone, levothyroxine and diuretics. Although FT4 normalized (14.4 pmol/L) a month later, renal function worsened requiring dialysis. Further evaluation including renal biopsy demonstrated IgA nephropathy as the underlying cause of NS and renal failure. Treatment with prednisolone led to gradual improvement in renal function and proteinuria (UPCR 0.21 g/L). A 73-year-old male with hypothyroidism diagnosed 6 months prior (FT4 11.9 pmol/L, TSH 7.23 mIU/L) for thyroxine replacement, diabetes, hypertension, dyslipidemia and CKD presented with anasarca, decompensated heart failure, pleural and pericardial effusions requiring ventilatory and inotropic support. On admission, he had marked hypothyroidism (FT4 2.9 pmol/L and TSH 97.2 mIU/L) and moderate proteinuria (UPCR 0.81 g/L). He was similarly treated with liothyronine, hydrocortisone and levothyroxine. Renal function initially deteriorated (creatinine 439 µmol/L, eGFR 11 mL/min/1.73 m²) but later returned to baseline with clinical recovery. Despite normalization of FT4 months later, proteinuria persisted; but renal function remained stable. Conclusion These cases highlight the overlapping manifestations of severe hypothyroidism and renal dysfunction with proteinuria. Each may mimic or exacerbate the other. NS may unmask underlying hypothyroidism. While inadequately treated hypothyroidism can worsen proteinuric CKD exacerbating hypothyroidism. Concurrent evaluation of both systems is essential to prevent misdiagnosis and guide timely management.
Hypothyroidism ; Proteinuria ; Kidney

Urinary tract infections (UTIs) are among the most common bacterial infections worldwide, requiring timely and accurate diagnosis to guide appropriate therapy and reduce antimicrobial resistance. Although urine culture remains the diagnostic gold standard, its prolonged turnaround time and susceptibility to pre-analytical variability limit its clinical efficiency. Recent advances in artificial intelligence (AI) have positioned urinalysis as a promising alternative diagnostic approach, utilizing machine learning and deep learning algorithms for automated analysis and prediction. This review synthesizes current evidence on AI applications in urinalysis for UTI diagnosis, examining computational techniques, diagnostic performance, clinical integration, limitations, and future directions. The literature demonstrates that AI-powered urinalysis can achieve diagnostic accuracy comparable to urine culture, with high sensitivity and specificity while reducing diagnostic time. Integration of AI into clinical workflows has the potential to enhance decision-making, streamline laboratory processes, and support antimicrobial stewardship. However, challenges related to data heterogeneity, algorithm interpretability, validation, and regulatory requirements remain significant barriers to widespread adoption. Overall, AI-driven urinalysis represents a transformative opportunity to complement the existing diagnostic standard and advance more rapid, efficient, and personalized approaches to UTI management.

Human ; Artificial Intelligence ; Urinalysis ; Urinary Tract Infections ; Machine Learning ; Deep Learning

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

Introduction: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital agenesis or hypoplasia of the uterus and upper vagina in phenotypic females with normal secondary sexual characteristics and a 46,XX karyotype. Atypical MRKH syndrome, or MRKH type II, is associated with extragenital anomalies, particularly renal abnormalities. Its diagnosis may be delayed when overshadowed by complex medical comorbidities. Case: A 19-year-old phenotypic female with CAKUT, complicated by right duplex kidney and end-stage renal failure on continuous ambulatory peritoneal dialysis, was admitted in September 2025 for peritonitis. Further history revealed primary amenorrhea. Physical examination demonstrated preserved pubertal development with Tanner stage III pubic hair and at least Tanner stage IV breast development. Hormonal profile was unremarkable, and chromosomal analysis showed a normal female karyotype (46,XX). Pelvic ultrasonography and computed tomography of the thorax, abdomen, and pelvis demonstrated uterine agenesis. In addition, bilateral oval-shaped heterogeneous soft tissue masses were identified within the paracolic gutters; ultrasonography showed multiple cysts within both masses, and each was associated with a gonadal vein, suggestive of bilateral ectopic gonadal structures on imaging. These findings were consistent with atypical MRKH syndrome type II in the context of underlying renal anomalies. Conclusion This case highlights the importance of evaluating primary amenorrhea even in patients with significant chronic illness. In phenotypic females with CAKUT, associated Müllerian anomalies should be actively considered. Atypical MRKH syndrome type II should be recognized early to enable accurate diagnosis, multidisciplinary follow-up, and appropriate reproductive and psychosocial counseling.
Female ; Cakut ; Mullerian aplasia ; Amenorrhea ; Urinary Tract ; Kidney