scholarly journals The spectrum of autosomal dominant polycystic kidney disease in children.

1994 ◽  
Vol 4 (9) ◽  
pp. 1654-1660
Author(s):  
G M Fick ◽  
I T Duley ◽  
A M Johnson ◽  
J D Strain ◽  
M L Manco-Johnson ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Severe Disease ◽  
Initial Study ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
A Prospective Study ◽  
And Function

The natural history of autosomal dominant polycystic kidney disease (ADPKD) has not been well described in children, and it is not known whether a relationship exists between renal structural abnormalities and function in children as has been seen in adults. Therefore, 140 children from 67 ADPKD families were studied in a prospective study. Only 22 children came with a previous diagnosis of ADPKD. In 44% of all children, at least one cyst was found on ultrasound at a mean age of 8.7 yr. Of these, 60% were classified as having moderate disease on the basis of a total cyst number of 1 to 10 cysts, whereas 40% were considered to have severe disease with a total of more than 10 cysts. There was a significant relationship between the severity of the renal structural involvement and the frequency of flank and back pain, hypertension, and impaired renal concentrating capacity. However, GFR were not reduced in children with ADPKD and did not relate to structural severity. Thirty-nine children were seen for a follow-up visit 2 to 5 yr after the initial visit. No child had progressed from nonaffected to affected with ADPKD, but three of four children with only one cyst at the time of the initial study had progressed to bilateral cysts. Among the 22 ADPKD children who had a follow-up study, there was progression of the disease, reflected by an increase in cyst number and an increase in the frequency of pain and hypertension. However, GFR remained stable in all children.(ABSTRACT TRUNCATED AT 250 WORDS)

scholarly journals Long-Term Outcomes in Patients with Very-Early Onset Autosomal Dominant Polycystic Kidney Disease

2016 ◽  
Vol 44 (3) ◽  
pp. 171-178 ◽  
Author(s):  
Kristen L. Nowak ◽  
Melissa A. Cadnapaphornchai ◽  
Michel B. Chonchol ◽  
Robert W. Schrier ◽  
Berenice Gitomer
Keyword(s):  
Kidney Disease ◽  
Clinical Outcomes ◽  
Polycystic Kidney Disease ◽  
Early Onset ◽  
Autosomal Dominant ◽  
Glomerular Hyperfiltration ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

Background: Long-term clinical outcomes in children with very-early onset (VEO; diagnosis in utero or within the first 18 months of life) autosomal dominant polycystic kidney disease (ADPKD) are currently not well understood. We conducted a longitudinal retrospective cohort study to assess the association between VEO status and adverse clinical outcomes. Methods: Seventy patients with VEO-ADPKD matched (by year of birth, sex and race/ethnicity) to 70 patients with non-VEO-ADPKD who participated in research at the University of Colorado were studied. Kaplan-Meier survival analysis was performed. The predictor was VEO status, and outcomes were progression to end-stage renal disease (ESRD), development of hypertension, progression to estimated glomerular filtration rate (eGFR <90 ml/min/1.73 m2), glomerular hyperfiltration (eGFR ≥140 ml/min/1.73 m2) and height-adjusted total kidney volume (htTKV) measured by MRI ≥600 ml/m. Results: Median follow-up was until 16.0 years of age. There were only 4 ESRD events during the follow-up period, all in the VEO group (p < 0.05). VEO patients were more likely to develop hypertension (hazard ratio, HR 3.15, 95% CI 1.86-5.34; p < 0.0001) and to progress to eGFR <90 ml/min/1.73 m2 (HR 1.97, 95% CI 1.01-3.84; p < 0.05) than non-VEO patients. There was no difference between groups in the development of glomerular hyperfiltration (HR 0.89, 95% CI 0.56-1.42; p = 0.62). There were only 7 patients who progressed to htTKV ≥600 ml/m, 4 in the VEO group and 3 in the non-VEO group (p < 0.01). Conclusions: Several clinical outcomes are worse in patients with VEO-ADPKD compared to non-VEO ADPKD. Children with VEO-ADPKD represent a particularly high-risk group of ADPKD patients.

P0708ASSOCIATION OF OBESITY WITH KIDNEY CYST GROWTH IN PATIENTS WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE; RESULTS FROM KNOW-CKD COHORT DATA

2020 ◽  
Vol 35 (Supplement_3) ◽  
Author(s):  
Chang Seong Kim ◽  
Hong Sang Choi ◽  
Eun hui Bae ◽  
Seong Kwon Ma ◽  
Soo Wan Kim
Keyword(s):  
Body Mass Index ◽  
Body Weight ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Body Mass ◽  
Autosomal Dominant ◽  
Obese Patients ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

Abstract Background and Aims Overweight or obese patients with autosomal dominant polycystic kidney disease (ADPKD) are associated with the decline of glomerular filtration rate. However, little is known about the annual rate of change in total kidney volume (TKV) in patients with ADPKD according to the body mass index (BMI) corrected by TKV and total liver volume (TLV). Method We analyzed 364 patients with ADPKD from the KoreaN Cohort Study for Outcomes in Patients with Chronic Kidney Disease. We compared the changes in TKV in less than 1-year, 2-years and 4-year follow-up from patients by dividing baseline body mass index (BMI) by 18.5 to 22.9 (normal), 23 to 24.9 (overweight), and &gt; 25 kg/m2 (obesity). Results During the 4-year follow-up period, TKV tended to increase statistically with increasing BMI (P = 0.032). Similarly, higher BMI group showed higher TKV than lower BMI group (P = 0.016). Conventional BMI is affected by TKV and TLV in advanced ADPKD patients. Therefore, we reclassified patients by corrected BMI using the adjusted body weight (body weight – TKV – TLV). Although the statistical significances between absolute value of TKV and corrected BMI groups were disappeared during the follow-up, TKV% change/year showed significantly higher in ADPKD patients with obesity among corrected BMI groups (normal; 20.2%, overweight; 17.6% and obesity; 30.6%, P for trend = 0.022) Conclusion Even after correcting the TKV and TVL, obese patients showed a high of TKV% change/year compared to non-obese patients with ADPKD.

scholarly journals Metformin Improves Relevant Disease Parameters in an Autosomal Dominant Polycystic Kidney Disease Mouse Model

2021 ◽  
Author(s):  
Nuria M Pastor-Soler ◽  
Hui Li ◽  
Jessica Pham ◽  
Daniel Rivera ◽  
Pei-Yin Ho ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Mouse Model ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Severe Disease ◽  
Treatment Options ◽  
Kidney Injury ◽  
Polycystic Kidney ◽  
Gene And Protein Expression ◽  
Autosomal Dominant Polycystic Kidney

Autosomal dominant polycystic kidney disease (ADPKD), caused by mutations in the PKD1 or PKD2 genes encoding polycystins, presents with progressive development of kidney cysts and eventual end-stage kidney disease (ESKD) with limited treatment options. Previous work showed that metformin reduces cyst growth in rapid ADPKD mouse models via inhibition of CFTR-mediated fluid secretion, mTOR, and cAMP pathways. The present study importantly tested the effectiveness of metformin as a therapy for ADPKD in a more clinically relevant Pkd1RC/RC mouse model, homozygous for the R3277C knock-in point mutation in the Pkd1 gene. This mutation causes ADPKD in humans. Pkd1RC/RC male and female mice, which have slow progression to ESKD, received metformin (300 mg/kg/day in drinking water vs. water alone) from 3 to 9 or 12 months of age. As previously reported, Pkd1RC/RC females had a more severe disease phenotype than males. Metformin treatment reduced the ratio of total kidney weight to body weight relative to age- and sex-matched untreated controls at both 9 and 12 months and reduced cystic index in females at 9 months. Metformin also increased glomerular filtration rate (GFR), lowered systolic blood pressure, improved anemia, and lowered blood urea nitrogen levels relative to controls in both sexes. Moreover, metformin reduced gene expression of key inflammatory markers and both gene and protein expression of kidney injury marker-1 and cyclin-dependent kinase-1 vs. untreated controls. Altogether, these findings suggest several beneficial effects of metformin in this highly relevant slowly progressive ADPKD mouse model, which may help inform new ADPKD therapies in patients.

scholarly journals Primary prevention of cardiovascular disease events with angiotensin-converting enzyme inhibitors and angiotensin receptor blockers in patients with autosomal dominant polycystic kidney disease on dialysis—a nationwide cohort study

2019 ◽  
Author(s):  
Chien-Yu Lin ◽  
Chien-Lin Lu ◽  
Lian-Yu Lin ◽  
Pau-Chung Chen ◽  
Kuo-Cheng Lu ◽  
...  
Keyword(s):  
Cardiovascular Disease ◽  
Cohort Study ◽  
Kidney Disease ◽  
Propensity Score ◽  
Propensity Score Matching ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

Abstract Background: Although renin-angiotensin-aldosterone system (RAAS) blockade has been shown to reduce cardiovascular disease (CVD) in the general population and high risk subjects, their protective effect in autosomal dominant polycystic kidney disease (ADPKD) patients under dialysis was still unknown. Methods: By using the database from 1995 to 2008 Taiwan National Health Insurance Research Database (Registry for Catastrophic Illnesses), we included 387 ADPKD patients who received dialysis therapy, aged ≥18 year-old, and with no evidence of CVD events in 1997 and 1998. We utilized Cox proportional hazards regression analysis and propensity score matching to evaluate adjusted hazard ratios for all-cause mortality and CVD events in users (n=231) and nonusers (n=156) of an angiotensin-converting enzymes inhibitor (ACEI) / angiotensin II receptor blocker (ARB) during the 12 years of follow-up. Results: All study subjects were followed up for more than 3 months. Compared with the control group, the ACEI/ARB treatment group did not have favorable outcome including acute coronary syndromes, receiving coronary intervention, cerebral vascular events, peripheral artery disease, heart failure and overall mortality. The results remain similar between groups before and after propensity score matching. Moreover, there was no significant difference in outcomes between ACEI/ARB treatment over 50% of follow-up period and without ACEI/ARB treatment after propensity score matching. Conclusions: We found ACEI or ARB usage is not associated with a reduction of cardiovascular events and survival benefit in our nationwide cohort study of ADPKD patient on dialysis from Taiwan. Further larger scale, multicenter and randomized control trials are warranted to show the causal association.

MO1005ADPEDKD: A GLOBAL ONLINE PLATFORM TO EXPLORE THE CHILDHOOD PHENOTYPE OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE*

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Angélique Dachy ◽  
Stéphanie De Rechter ◽  
Lisa Guay-Woodford ◽  
Andrew John Mallett ◽  
Tess Harris ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Longitudinal Data ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Kidney Diseases ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
Tract Infections ◽  
Prospective Longitudinal

Abstract Background and Aims Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the 4th common cause of renal replacement therapy worldwide. As the disorder has been historically considered an adult-onset disease, there is a lack of longitudinal data from large pediatric cohorts. However, evidence is growing that first manifestations of ADPKD may be detected in childhood and children represent a specific target population for future treatment, allowing a better chance of preserving long term kidney function. To better define the pediatric spectrum of the disease, a global multicenter observational study on childhood-diagnosed ADPKD was launched in 2017. Method The ADPedKD registry is a worldwide web-based database, including both retrospective and prospective longitudinal data from young ADPKD patients (≤19 years). Australia, North-America and the United Kingdom joined the initiative with their source databases, namely the KidGen Collaborative (KidGen), NIH-funded Hepato-Renal Fibrocystic Disease (HRFD) and National Registry of Rare Kidney Diseases (RaDaR). Under informed consent, de-identified patient data, including genetics, radiological and laboratory findings, treatments and follow-up were enrolled in the database accessible via https://www.ADPedKd.org/. Results 1019 ADPKD children (from 89 centers and 33 countries) are enrolled in the registry of which 167 patients from RaDaR, 17 from KidGen, 11 from HRFD and 824 from ADPedKD (401 male/ 423 female) with a mean (± SD) age at diagnosis of 6.3 ± 5.2 years. 81 children (9.8%) were diagnosed prenatally at a mean gestational age of 26.8 ± 7.8 weeks. Reasons for initial visit were: family screening in 325 (39.4%), postnatal incidental finding in 223 (27.0%), presenting features (such as hematuria, hypertension, urinary tract infections and flank or back pain) in 150 (18.2%) or unknown/not available in 126 (15.3%). Genetic testing was performed in 42.8% of the population, with the following results: PKD1 mutation (85.4%), PKD2 mutation (11.7%) and others (6.0%). Conclusion The ADPedKD registry is a unique source of clinical observational data that will provide deep phenotyping of children with ADPKD and will allow to define unified diagnostic, treatment and follow-up recommendations.

Sign in / Sign up

Export Citation Format

Share Document