Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: Data for genetic counselling

Bear, J. C.; McManamon, P J; Morgan, J.G.; Payne, R. H.; Lewis, H.; Gault, M. H.; Churchill, David; Opitz, John M.

doi:10.1002/ajmg.1320180108

Cited by 151 publications

(44 citation statements)

References 16 publications

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“…The diag nosis of ADPKD was made on the basis of ultrasonographic criteria [17] and family history. From a total group of 62 patients with first creatinine clearance (Ccr) higher than 80 ml/min/1.73 m2.…”

Section: Methodsmentioning

confidence: 99%

Influence of Hypertension on Early Renal Insufficiency in Autosomal Dominant Polycystic Kidney Disease

Gonzalo

Gallego

Rivera

et al. 1996

Nephron

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To determine the potential effect of hypertension on early renal function deterioration, 30 patients (13 normotensive and 17 hypertensive) with autosomal dominant polycystic kidney disease and initially normal renal function were retrospectively analyzed. The decline in renal function was estimated by the slope of the linear regression of creatinine clearance versus time. Analysis was made in terms of standardized slope (slope divided by its standard deviation, i.e., measured in standard deviation units). In the hypertensive group the mean standardized slope was significantly higher than in the normotensive group (-10.89 and -4.98, respectively; p < 0.001). The average mean arterial pressure was significantly lower in the normotensive group with respect to the hypertensive one (95 and 109 mm Hg, respectively; p < 0.0001). There was a significant negative linear relationship between the average values of systolic, diastolic, and mean arterial pressures and standardized slopes. The best prediction equation for renal function deterioration was obtained using a multiple linear regression model in which independent variables were maximum and average diastolic pressures. Therefore, prior to renal insufficiency, a high arterial pressure had a significant contribution to renal function deterioration.

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Section: Methodsmentioning

confidence: 99%

Influence of Hypertension on Early Renal Insufficiency in Autosomal Dominant Polycystic Kidney Disease

Gonzalo

Gallego

Rivera

et al. 1996

Nephron

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“…A recent prospective study of structural and functional progression among 232 ADPKD patients with creatinine clearance Ͼ70 ml/min at enrollment documented average increases in total kidney volume of 204 Ϯ 246 ml over 3 years, and decrements in GFR of 4.3 Ϯ 8.1 ml/min per year in participants with baseline kidney volume Ͼ1500 ml (2). Incidence estimates for ESRD among ADPKD patients have ranged from 45% to 70% by age 65 years (3)(4)(5)(6). As a manifestation of its progressive course, ADPKD ranks as the fourth most common cause of ESRD among adults in the United States (7).…”

mentioning

confidence: 99%

Renal Function and Healthcare Costs in Patients with Polycystic Kidney Disease

Lentine

Xiao

Machnicki

et al. 2010

Clinical Journal of the American Society of Nephrology

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Background and objectives: Characterizing relationships of kidney function to healthcare costs in polycystic kidney disease has applications for economic evaluations of standard and emerging therapies.Design, setting, participants, & measurements: The administrative records (2003 to 2006) of a private health insurer were examined to identify polycystic kidney disease patients (n ‫؍‬ 1913) from ICD9 diagnosis codes on billing claims. The first available diagnostic claim was assumed as an index date, and baseline estimated GFR (eGFR) was computed using closest serum creatinine value. The associations of eGFR with annualized charges were modeled by nonlinear and linear regression.Results: Medical, pharmacy, and total healthcare costs varied significantly by baseline kidney function, such that mean total annualized charges (unadjusted) were approximately 5-fold higher in patients with eGFR < 15 ml/min compared with those with eGFR > 90 ml/min. After adjustment for age and gender, total charges did not differ significantly among patients with eGFR > 30 ml/min, and but rose precipitously with eGFR < 30 ml/min. Each ml/min decline <30 ml/min predicted approximately $5435 higher adjusted annual charges. Results were similar after adjustment for baseline diabetes and cardiovascular disease as identified in claims, while significantly higher adjusted charges were detected with eGFR ‫؍‬ 31 to 60 ml/min versus >90 ml/min in a subgroup free of diabetes and cardiovascular disease.Conclusions: Healthcare charges are associated with advanced renal dysfunction in polycystic kidney disease patients. Strategies that prevent loss of renal function below 30 ml/min have the potential to generate substantial reductions in medical charges.

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“…As indicated in Fig. 2, abdominal ultrasonography and laboratory tests of his living family members clarified that five family members including the proband had polycystic kidney disease according to the Bear et al criteria (32). Liver cysts were observed in all five affected members.…”

Section: Resultsmentioning

confidence: 89%

“…The criteria for the diagnosis of ADPKD were based on the studies of Bear et al (32). Individuals were considered to be affected if they were found to have at least one cyst in each kidney and at least two cysts in one kidney.…”

Section: Methodsmentioning

confidence: 99%

A Pathogenic C Terminus-truncated Polycystin-2 Mutant Enhances Receptor-activated Ca2+ Entry via Association with TRPC3 and TRPC7

Miyagi

Kiyonaka

Yamada

et al. 2009

Journal of Biological Chemistry

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Mutations in PKD2 gene result in autosomal dominant polycystic kidney disease (ADPKD). PKD2 encodes polycystin-2 (TRPP2), which is a homologue of transient receptor potential (TRP) cation channel proteins. Here we identify a novel PKD2 mutation that generates a C-terminal tail-truncated TRPP2 mutant 697fsX with a frameshift resulting in an aberrant 17-amino acid addition after glutamic acid residue 697 from a family showing mild ADPKD symptoms. When recombinantly expressed in HEK293 cells, wild-type (WT) TRPP2 localized at the endoplasmic reticulum (ER) membrane significantly enhanced Ca 2؉ release from the ER upon muscarinic acetylcholine receptor (mAChR) stimulation. In contrast, 697fsX, which showed a predominant plasma membrane localization characteristic of TRPP2 mutants with C terminus deletion, prominently increased mAChR-activated Ca 2؉ influx in cells expressing TRPC3 or TRPC7. Coimmunoprecipitation, pulldown assay, and cross-linking experiments revealed a physical association between 697fsX and TRPC3 or TRPC7. 697fsX but not WT TRPP2 elicited a depolarizing shift of reversal potentials and an enhancement of single-channel conductance indicative of altered ion-permeating pore properties of mAChR-activated currents. Importantly, in kidney epithelial LLC-PK1 cells the recombinant 679fsX construct was codistributed with native TRPC3 proteins at the apical membrane area, but the WT construct was distributed in the basolateral membrane and adjacent intracellular areas. Our results suggest that heteromeric cation channels comprised of the TRPP2 mutant and the TRPC3 or TRPC7 protein induce enhanced receptor-activated Ca 2؉

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Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: Data for genetic counselling

Cited by 151 publications

References 16 publications

Influence of Hypertension on Early Renal Insufficiency in Autosomal Dominant Polycystic Kidney Disease

Influence of Hypertension on Early Renal Insufficiency in Autosomal Dominant Polycystic Kidney Disease

Renal Function and Healthcare Costs in Patients with Polycystic Kidney Disease

A Pathogenic C Terminus-truncated Polycystin-2 Mutant Enhances Receptor-activated Ca2+ Entry via Association with TRPC3 and TRPC7

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