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

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

OBJECTIVE: To explore the detection rate of copy number variations (CNVs) in fetuses with isolated Congenital anomalies of the kidney and urinary tract (CAKUT) and pregnancy outcomes in order to provide a basis for genetic counseling. METHODS: One hundred and eighty eight fetuses who underwent chromosomal microarray analysis (CMA) due to isolated CAKUT detected by prenatal ultrasonography at Qingdao Women and Children's Hospital from January 2021 to December 2024 were selected as the study subjects. According to the ultrasound findings, the fetuses were divided into 8 groups, including renal parenchymal dysplasia group, renal cystic dysplasia group, simple renal parenchymal echo enhancement group, abnormal development of renal collecting system group, duplicated kidney group, ectopic kidney group, horseshoe kidney group, and bladder/posterior urethral abnormalities group. The detection of CNVs was retrospectively analyzed, and the pregnant women were followed up to summarize their pregnancy outcomes. 2 test (or Fisher's exact probability method) was used to compare the CNV detection rates between the groups. This study was approved by the Medical Ethics Committee of the Qingdao Women and Children's Hospital (Ethics No.: QFELL-YJ-2025-85). RESULTS: Among the 188 fetuses with isolated CAKUT, 23 CNVs (12.23%) were detected, of which 13 cases (6.91%) were pathogenic and 10 cases were rated as variants of unknown significance (VOUS). Among the 8 groups, the three groups with the highest proportion were renal cystic dysplasia group, renal metaplasia group, and renal parenchymal dysplasia group. The detection rates of pathogenic CNVs in the three groups were 1.79% (1/56), 6.78% (4/59), and 16.67% (5/30), respectively, with statistically significant differences (P < 0.05). Parental verification was conducted on 12 fetuses detected with the CNVs, confirming that 2 cases were de novo and 10 were inherited from parents with a normal phenotype. After genetic counseling, the parents of 9 fetuses opted to terminate the pregnancy, while 11 chose to continue with the pregnancy, and 3 were lost to follow-up. At the time of last follow-up, the youngest offspring was 5 months old and the oldest was 3 years and 11 months old. One child had renal aplasia, and two were born with hydronephrosis, which have been cured through surgery. The remainders had no obvious abnormality with their growth and development. CONCLUSION CMA testing has important value for prenatal diagnosis of isolated CAKUT. In this study, the detection rate of pathogenic CNVs has increased sequentially in fetuses with renal cystic developmental abnormalities, renal collecting system developmental abnormalities, and renal parenchymal dysplasia, while there was no significant difference in the detection rate of CNVs. For fetuses with isolated CAKUT detected by prenatal ultrasound, CMA testing should be considered, and reasonable pregnancy decisions should be made based on the results of prenatal ultrasound and parental verification.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis/methods* ; DNA Copy Number Variations/genetics* ; Kidney/abnormalities* ; Adult ; Ultrasonography, Prenatal ; Urogenital Abnormalities/diagnosis* ; Microarray Analysis/methods* ; Retrospective Studies ; Urinary Tract/abnormalities* ; Fetus ; Pregnancy Outcome ; Vesico-Ureteral Reflux