Polycystic Kidney Research Articles

Deletion of the Homeobox Gene Cux1 Decreases Ciliogenesis in a Mouse Model of Polycystic Kidney Disease

Deletion of the Homeobox Gene Cux1 Decreases Ciliogenesis in a Mouse Model of Polycystic Kidney Disease

Integrating Genotype and Phenotype Data Is Required for Kidney Survival Prediction in Autosomal Dominant Polycystic Kidney Disease

Integrating Genotype and Phenotype Data Is Required for Kidney Survival Prediction in Autosomal Dominant Polycystic Kidney Disease

Unraveling Rarity: Atypical Presentation of Polycystic Kidney Disease

Unraveling Rarity: Atypical Presentation of Polycystic Kidney Disease

PYC-003, a Peptide-Conjugated Oligonucleotide for the Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD)

PYC-003, a Peptide-Conjugated Oligonucleotide for the Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Small Interfering RNA (siRNA) Therapy Using Kidney Targeting Nanoparticles for Treating Polycystic Kidney Disease

Small Interfering RNA (siRNA) Therapy Using Kidney Targeting Nanoparticles for Treating Polycystic Kidney Disease

Graft Kidney Artery Stenosis in a Deceased Donor Kidney Transplant Recipient with Autosomal Dominant Polycystic Kidney Disease: A Case Report

Graft Kidney Artery Stenosis in a Deceased Donor Kidney Transplant Recipient with Autosomal Dominant Polycystic Kidney Disease: A Case Report

A Ketogenic Diet Alters Liver Cyst Progression in a Rodent Model of Polycystic Kidney Disease and Is Dependent on GPR109A

A Ketogenic Diet Alters Liver Cyst Progression in a Rodent Model of Polycystic Kidney Disease and Is Dependent on GPR109A

Exome Sequencing "Firsthand" for Polycystic Kidney Diseases: Impact beyond PKD1/PKD2 Identification on ADPKD Clinical Management

Exome Sequencing "Firsthand" for Polycystic Kidney Diseases: Impact beyond PKD1/PKD2 Identification on ADPKD Clinical Management

Three-Dimensional Imaging and Genetic Characterisation of a Rat Model of Polycystic Kidney Disease

Three-Dimensional Imaging and Genetic Characterisation of a Rat Model of Polycystic Kidney Disease

Qualitative Analysis and Comparison of Externally Led, Patient-Focused Drug Development (EL-PFDD) Concepts for Autosomal Recessive Polycystic Kidney Disease (ARPKD) against Standardized Outcomes in Nephrology (SONG) Initiatives

Qualitative Analysis and Comparison of Externally Led, Patient-Focused Drug Development (EL-PFDD) Concepts for Autosomal Recessive Polycystic Kidney Disease (ARPKD) against Standardized Outcomes in Nephrology (SONG) Initiatives

Functional Analysis of a De Novo Monoallelic NEK8 Variant Supports Pathogenicity for a Polycystic Kidney Disease Phenotype

Functional Analysis of a De Novo Monoallelic NEK8 Variant Supports Pathogenicity for a Polycystic Kidney Disease Phenotype

Genetics behind the Phenotypic Spectrum of Polycystic Kidney Disease

Genetics behind the Phenotypic Spectrum of Polycystic Kidney Disease

Low-dose tolvaptan to control disease progression in Chinese patients with autosomal dominant polycystic kidney disease: a retrospective cohort study.

Tolvaptan has been shown to be effective in the treatment of autosomal dominant polycystic kidney disease (ADPKD). However, there is limited evidence regarding optimal dosing and its application within the Chinese population. In this study, we aimed to determine whether a lower tolvaptan dose could effectively control ADPKD in Chinese patients. This retrospective, single-center cohort study was conducted in a real-world setting and included all patients newly diagnosed with rapidly progressive ADPKD who initiated tolvaptan treatment and maintained it for at least 12 months. Data were collected at baseline and at 1, 2, 4, 8, and 12 months after treatment initiation. Patients began with morning/evening tolvaptan doses of 7.5 mg/7.5 mg, and the dose was subsequently adjusted based on effectiveness and tolerability. The patients were categorized by baseline estimated glomerular filtration rate (eGFR) and final daily tolvaptan dose. Changes in eGFR and other key physiological indicators after treatment were compared within each group. The study included 43 patients with ADPKD, of whom 20 were female, with a median age of 34.3 years (range, 16-85 years). At 12 months, eGFR improved by 5.48 mL/min/1.73 m2 [95% confidence interval (CI): 2.68-8.29] (P<0.001) compared to baseline. Significant improvements were observed in patients with baseline eGFR levels of 30-59, 60-89, and ≥90 mL/min/1.73 m2 (P=0.007, 0.045, and 0.02, respectively), as well as in medium and high dose groups (P=0.002 and 0.02, respectively). At 12 months, the annual height-adjusted total kidney volume (HtTKV) growth slope decreased by -0.17 %/year (95% CI: -0.33 to -0.01) (P=0.04). Significant decreases were observed in patients with an eGFR of 30-59 mL/min/1.73 m2 (P=0.008) and in the medium dose group (P=0.03). Thirst was reported in 22 (51.2%) patients, all of whom experienced mild symptoms. No liver-associated adverse events were noted. Tolvaptan is well tolerated at low initial doses in Chinese patients with ADPKD. Significant improvements in eGFR and reduced HtTKV growth were observed in the overall population and across various baseline eGFR and final dose groups.

The TIMING Study: Patients' and Clinicians' Perspectives on Reproductive Health Care and Autosomal Dominant Polycystic Kidney Disease

The TIMING Study: Patients' and Clinicians' Perspectives on Reproductive Health Care and Autosomal Dominant Polycystic Kidney Disease

Urinary Dickkopf-3 Reflects Disease Severity and Predicts Short-Term Kidney Function Decline in Renal Ciliopathies

BackgroundPhenotypic heterogeneity and unpredictability of individual disease progression present enormous challenges in ultrarare renal ciliopathies. The tubular-derived glycoprotein Dickkopf-related protein 3 (DKK3) is a promising biomarker for kidney fibrosis and prediction of kidney function decline. Here, we measured urinary (u)DKK3 levels in 195 pediatric renal ciliopathy patients to assess its potential as a discriminative and prediction marker. MethodsUDKK3 concentration was measured in 357 spot urine samples from 247 individuals including 52 healthy age-matched controls. Disease entities comprised nephronophthisis (NPH) (n=37), autosomal recessive polycystic kidney disease (ARPKD) (n=61), Bardet Biedl syndrome (BBS) (n=57) and hepatocyte nuclear factor 1 beta (HNF1B)-nephropathy (n=40). Results were correlated with chronic kidney disease (CKD) stage and annual estimated glomerular filtration rate (eGFR) decline. ResultsMedian uDKK3/creatinine ratios in all disease entities were significantly higher compared with healthy controls (11pg/mg uDKK3/crea, p<0.001): NPH 1.219pg/mg, HNF1B 731pg/mg, BBS 541pg/mg and ARPKD 437pg/mg. A significant correlation of CKD stage with uDKK3 levels was observed for all disease entities (p<0.0001) with no other clinical parameter having a relevant impact. In our cohort, uDKK3 values >4.700 pg/mg were associated with a significantly greater annual eGFR loss independently of diagnosis and eGFR (p=0.0029). While we observed a trend towards lower uDKK3 levels in glomerulopathies compared to renal ciliopathies, there was no discriminative difference between individual ciliopathy entities (p=0.2637). ConclusionIn renal ciliopathies uDKK3 is a marker to assess disease severity and estimate short-term kidney function decline.

Death-Specific Risk Factors among US Veterans with Autosomal Dominant Polycystic Kidney Disease

Death-Specific Risk Factors among US Veterans with Autosomal Dominant Polycystic Kidney Disease

Modeling the Impact of Polycystic Kidney Disease Genetic Modifiers Using Kidney Organoids Generated from Autologous Induced Pluripotent Stem Cells

Modeling the Impact of Polycystic Kidney Disease Genetic Modifiers Using Kidney Organoids Generated from Autologous Induced Pluripotent Stem Cells

Concomitant Wilms tumor and autosomal dominant polycystic kidney disease.

Concomitant Wilms tumor (WT) and autosomal dominant polycystic kidney disease (ADPKD) is exceedingly rare, presenting a diagnostic and technical challenge to pediatric surgical oncologists. The simultaneous workup and management of these disease processes are incompletely described. We performed a retrospective analysis of patients treated at our institution with concomitant diagnoses of WT and ADPKD. We also review the literature on the underlying biology and management principles of these conditions. We present three diverse cases of concomitant unilateral WT and ADPKD who underwent nephrectomy. One patient had preoperative imaging consistent with ADPKD with confirmatory testing postoperatively, one was found to have contralateral renal cysts intraoperatively with confirmatory imaging post nephrectomy, and one was diagnosed in childhood post nephrectomy. All patients are alive at last follow-up, and the patient with longest follow-up has progressed to end-stage kidney failure requiring transplantation and dialysis in adulthood. All patients underwent germline testing and were found to have no cancer predisposition syndrome or pathogenic or likely pathogenic variants for WT. Concomitant inheritance of ADPKD and development of WT are extremely rare, and manifestations of ADPKD may not present until late childhood or adulthood. ADPKD is not a known predisposing condition for WT. When ADPKD diagnosis is made by family history, imaging, and/or genetic testing before WT diagnosis and treatment, the need for extensive preoperative characterization of cystic kidney lesions in children and increased risk of post-nephrectomy kidney failure warrant further discussion of surgical approach and perioperative management strategies.

Cell-Free and Concentrated Ascites Reinfusion Therapy Is More Effective for Refractory Ascites in Patients with Autosomal Dominant Polycystic Kidney Disease

Cell-Free and Concentrated Ascites Reinfusion Therapy Is More Effective for Refractory Ascites in Patients with Autosomal Dominant Polycystic Kidney Disease

Effectiveness of Tolvaptan on Kidney Replacement Therapy in Patients with Autosomal Dominant Polycystic Kidney Disease: A Retrospective Cohort Study from the TriNetX Global Collaborative Network

Effectiveness of Tolvaptan on Kidney Replacement Therapy in Patients with Autosomal Dominant Polycystic Kidney Disease: A Retrospective Cohort Study from the TriNetX Global Collaborative Network