Polycystic Kidney Research Articles

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.

Cerebral Aneurysm in an Adult with Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Cerebral Aneurysm in an Adult with Autosomal Recessive Polycystic Kidney Disease (ARPKD)

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

Correlation of Genotype with Age at Disease Onset and Hypertension Diagnosis in Autosomal Dominant Polycystic Kidney Disease

Correlation of Genotype with Age at Disease Onset and Hypertension Diagnosis in Autosomal Dominant Polycystic Kidney Disease

Overweight and Obesity Are Associated with Lower Kidney Blood Flow in Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Overweight and Obesity Are Associated with Lower Kidney Blood Flow in Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Activation of Apelin Receptor Inhibits Cystogenesis in a Mouse Model of Polycystic Kidney Disease

Activation of Apelin Receptor Inhibits Cystogenesis in a Mouse Model of Polycystic Kidney Disease

Role of Ankyrin Repeat and Single KH Domain 1 in Autosomal Dominant Polycystic Kidney Disease Pathogenesis and CyclinD1/CDK4-Induced Proliferation

Role of Ankyrin Repeat and Single KH Domain 1 in Autosomal Dominant Polycystic Kidney Disease Pathogenesis and CyclinD1/CDK4-Induced Proliferation

Effect of Pravastatin on Kidney Disease Outcomes in Adult Patients with Early-Stage Autosomal Dominant Polycystic Kidney Disease

Effect of Pravastatin on Kidney Disease Outcomes in Adult Patients with Early-Stage Autosomal Dominant Polycystic Kidney Disease

Prevalence and Severity of Polycystic Liver Disease (PLD) in Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Prevalence and Severity of Polycystic Liver Disease (PLD) in Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Safety and Efficacy of Bardoxolone Methyl in Patients with Autosomal Dominant Polycystic Kidney Disease

Safety and Efficacy of Bardoxolone Methyl in Patients with Autosomal Dominant Polycystic Kidney Disease

Evaluating the Safety and Effectiveness in Adult Korean Patients Treated with Tolvaptan for Management of Autosomal Dominant Polycystic Kidney Disease (ESSENTIAL): Final Report

Evaluating the Safety and Effectiveness in Adult Korean Patients Treated with Tolvaptan for Management of Autosomal Dominant Polycystic Kidney Disease (ESSENTIAL): Final Report

Cell State Transition Associated with Cyst Development in Autosomal Dominant Polycystic Kidney Disease

Cell State Transition Associated with Cyst Development in Autosomal Dominant Polycystic Kidney Disease

Combination Treatment of Difelikefalin and Tolvaptan for Late-Stage Polycystic Kidney Disease

Combination Treatment of Difelikefalin and Tolvaptan for Late-Stage Polycystic Kidney Disease

Increased Urinary Ferritin in Patients with Autosomal Dominant Polycystic Kidney Disease

Increased Urinary Ferritin in Patients with Autosomal Dominant Polycystic Kidney Disease

Association between Age and Body Mass Index in Patients with End-Stage Autosomal Dominant Polycystic Kidney Disease (ADPKD) in the United States and Japan

Association between Age and Body Mass Index in Patients with End-Stage Autosomal Dominant Polycystic Kidney Disease (ADPKD) in the United States and Japan

Autophagy Knockout Results in ERK Activation, Increased Proliferation, and Apoptosis of Cyst-Lining Epithelial Cells and Worse Polycystic Kidney Disease

Autophagy Knockout Results in ERK Activation, Increased Proliferation, and Apoptosis of Cyst-Lining Epithelial Cells and Worse Polycystic Kidney Disease