Division of Renal Diseases and Hypertension, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Division of Renal Diseases and Hypertension, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Division of Nephrology and Hypertension and the Jared Grantham Kidney Institute, University of Kansas Medical Center, Kansas City, KS. Electronic address: ayu@kumc.edu.
Department of Anesthesiology, University of Colorado School of Medicine, University of Colorado Denver Anschutz Medical Campus, 12705 E Montview Blvd, Bioscience 2, Suite 200, Aurora, CO, 80045-7109, USA.
Department of Anesthesiology, University of Colorado School of Medicine, University of Colorado Denver Anschutz Medical Campus, 12705 E Montview Blvd, Bioscience 2, Suite 200, Aurora, CO, 80045-7109, USA.
Department of Anesthesiology, University of Colorado School of Medicine, University of Colorado Denver Anschutz Medical Campus, 12705 E Montview Blvd, Bioscience 2, Suite 200, Aurora, CO, 80045-7109, USA.
Division of Renal Diseases and Hypertension, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Department of Anesthesiology, University of Colorado School of Medicine, University of Colorado Denver Anschutz Medical Campus, 12705 E Montview Blvd, Bioscience 2, Suite 200, Aurora, CO, 80045-7109, USA.
Department of Anesthesiology, University of Colorado School of Medicine, University of Colorado Denver Anschutz Medical Campus, 12705 E Montview Blvd, Bioscience 2, Suite 200, Aurora, CO, 80045-7109, USA. Jelena.Klawitter@cuanschutz.edu.
Division of Renal Diseases and Hypertension, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. Jelena.Klawitter@cuanschutz.edu.
Department of Pediatrics and Center for Molecular Medicine Cologne, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany; Department II of Internal Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Division of Nephrology, Department of Medicine, University Health Network and University of Toronto, 8N838, 585 University Avenue, Toronto, ON, M5G 2N2, Canada.
Division of Nephrology, Department of Medicine, University Health Network and University of Toronto, 8N838, 585 University Avenue, Toronto, ON, M5G 2N2, Canada. york.pei@uhn.ca.
Orexin-A is a neuropeptide product of the lateral hypothalamus that acts on two receptors, OX1R and OX2R. The orexinergic system is involved in feeding, sleep, and pressure regulation. Recently, orexi...
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common autosomal dominant genetic diseases. Whole exome sequencing (WES) is a routine tool for diagnostic confirmation of geneti...
ADPKD-related genes were detected by WES; Chromosomal karyotyping and Optical Genome Mapping (OGM) were used to detect structural variant; The genomic break-point locations and the abnormal splicing w...
No pathogenic variant was found after the first round of WES analysis. Karyotyping data showed 46, XX, t (16; 17) (p13.3; q21.3). With the help of OGM, the translocation breakpoint on chromosome 16 wa...
We identified a case of ADPKD caused by balanced translocation and assisted the patient to have a healthy child. When the phenotype was closely related with a monogenic disease and the WES analysis wa...
Genetic testing in nephrology is becoming increasingly important to diagnose patients and to provide appropriate care. This is especially true for autosomal dominant polycystic kidney disease (ADPKD) ...
There is a broad phenotypic spectrum of monogenic polycystic kidney diseases (PKDs). These disorders often involve cilia-related genes and lead to the development of fluid-filled cysts and eventual ki...
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a low-prevalence pathology mainly associated with pathogenic variants of the UMOD gene. It is characterized by the progressive deteriora...
Using OVERTURE (NCT01430494) study data on patient-perceived health, health care utilization, and productivity in autosomal dominant polycystic kidney disease (ADPKD), this research was conducted to c...
Data were analyzed from a prospective, observational study....
The study cohort comprised 3,409 individuals with ADPKD in 20 countries who were aged 12-78 years and were in chronic kidney disease (CKD) stages G1-G5 and Mayo risk subclasses 1A-1E....
Scores on PRO instruments, including disease-specific assessments [ADPKD-Impact Scale (ADPKD-IS), and ADPKD-Urinary Impact Scale (ADPKD-UIS)] and generic measures were assessed....
Clinical variables [eg, height-adjusted total kidney volume (htTKV), estimated glomerular filtration rate (eGFR), and abdominal girth] and health-economic outcomes were assessed....
Associations among variables were evaluated using Spearman correlations, logistic regression, and generalized linear mixed effects repeated measures models....
Baseline CKD stage and Mayo risk classification showed little correlation with baseline PRO scores; however, scores on disease-specific instruments and measures of physical functioning were worse at m...
A limitation of the study was the maximum 18 months of follow-up available to assess outcomes....
PRO scores predicted clinical and health-economic outcomes, such as hospitalization and absence from work, underscoring the importance of quality of life assessment of individuals with ADPKD....
Patient-reported outcomes (PROs) are increasingly recognized as important parameters for assessing the clinical and humanistic burden of autosomal dominant polycystic kidney disease (ADPKD). We analyz...
Autosomal dominant polycystic kidney disease (ADPKD) is a chronic systemic disease that affects all races and ethnicities. It is the fourth leading cause of end-stage kidney disease, and it has a hete...
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by multiple bilateral kidney cysts which gradually enlarge, resulting in a decline in kidney function. Cyst growth is significantl...
Mice with an inducible tubule-specific deletion of Pkd1 were compared to mice with an additional co-deletion of the purinergic receptor P2y2r. Furthermore, animals were challenged by pharmacological a...
Genetic deletion of P2y2r significantly inhibited cyst growth in vivo. In addition, aggravation of the polycystic phenotype mediated by pharmacological activation of HIF-1α was reduced by deletion of ...
P2Y2R was significantly expressed in human and mouse polycystic kidneys. Deletion and antagonism of P2Y2R reduced cyst enlargement in an ADPKD mouse model....
Autosomal dominant polycystic kidney disease is an inherited kidney disorder with mutations in polycystin-1 or polycystin-2. Autosomal recessive polycystic kidney disease is a severe form of polycysti...
We evaluated the children diagnosed with polycystic kidney disease between October 2020 and May 2022. The diagnosis was established by family history, ultrasound findings, and/or genetic analysis. The...
There were 28 children (male/female: 11:17) evaluated in this study. Genetic analysis was performed in all patients (polycystin-1 variants in 13, polycystin-2 variants in 7, and no variants in 8 patie...
Our results highlighted molecular features of Turkish children with polycystic kidney disease and demonstrated novel variations that can be utilized in clinical diagnosis and prognosis....
Prognosis for autosomal dominant polycystic kidney disease (ADPKD), the main inherited cause of kidney failure, relies on estimating cystic growth using linear formulas derived from height-adjusted to...
To determine kidney outcomes of subjects diagnosed with typical ADPKD exhibiting nonlinear, and unpredictable cystic growth during follow-up....
Retrospective cohort study. We categorized TKV changes in individuals with typical ADPKD according to observed kidney growth trajectories. Ht-TKV was calculated from consecutive CT or MRI using the el...
We included 83 individuals with ADPKD (67% women; age 47 ± 12 years; follow-up 5.2 years [IQR 2.8-9.0]). Three kidney growth patterns were observed: slow progression (24%, <3%/year linear increase), f...
In typical ADPKD, nonlinear, abrupt, and unpredictable cyst growth occurs frequently, leading to a higher risk of acute complications and kidney function decline....
