Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany

Neumann, Hartmut P. H.; Jilg, Cordula A.; Bacher, Janina; Nabulsi, Zinaida; Malinoc, Angelica; Hummel, Barbara; Hoffmann, Michael M.; Ortiz-Bruechle, Nadina; Gläsker, Sven; Pisarski, Przemyslaw; Neeff, Hannes; Krämer-Guth, Annette; Cybulla, Markus; Hornberger, Martin; Wilpert, Jochen; Funk, Ludwig; Baumert, J.; Paatz, Dietrich; Baumann, Dieter; Lahl, Markus; Felten, H; Hausberg, Martin; Zerres, Klaus; Eng, Charis

doi:10.1093/ndt/gfs551

Cited by 85 publications

(88 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…This approach yielded an ADPKD diagnosed point prevalence on December 31, 2012, of 3.96 per 10,000. Other recently published European studies [17, 36, 37] have yielded similar prevalence estimates ranging from 3.3 to 4.6 per 10,000. Also consistent with these results, a recent European meta-analysis of 8 epidemiologic studies yielded an average prevalence of 2.7 per 10,000 (95% CI = 0.73–4.67) and a point prevalence of 3.63 per 10,000 in the province of Modena (Italy) [38].…”

Section: Discussionsupporting

confidence: 57%

Analysis of Nationwide Data to Determine the Incidence and Diagnosed Prevalence of Autosomal Dominant Polycystic Kidney Disease in the USA: 2013–2015

et al. 2019

View full text Add to dashboard Cite

Background: This study addresses an important gap, as it is the first US nationwide, epidemiologic study of ADPKD incidence and prevalence. Summary: This 3-year, observational study utilized data from Truven Health MarketScan® administrative claims, as well as cross-sectional data from the National Ambulatory Medical Care Survey (NAMCS). We estimated the annual incidence and diagnosed prevalence using population-based data on over 170 million de-identified patients to provide the most current epidemiologic estimates available. The ADPKD-diagnosed prevalence was 4.3 per 10,000 in the NAMCS, which closely corresponded with age-adjusted rates from patients with either commercial insurance or employer-sponsored Medicare supplemental insurance. The annual incidence was 0.62 per 10,000. Both nationwide data sets indicate that approximately 140,000 patients are currently diagnosed in the USA. We also found significant differences by gender and age. Females are nearly twice as likely as males to be diagnosed in early adulthood, while the incidence in males was highest in those aged 65 years or older. ADPKD appears more likely to be diagnosed in men after disease progression or the development of chronic kidney disease. Key Messages: Our results revealed striking age and gender differences in the incidence of ADPKD. Young women are diagnosed with ADPKD at nearly twice the rate of young men, perhaps due to the use of ultrasound in women during child-bearing years. This points to a need for increased recognition of ADPKD, with an emphasis on younger men in particular. ADPKD has been inaccurately perceived as a common condition based on misinterpretation of early epidemiologic data (1957) confirmed by our data and recent European data. ADPKD affects approximately 140,000 patients in the USA and meets the criterion for a rare disease. Our results indicate a need for further study of gender and ADPKD diagnosis, progression, management, and outcomes.

show abstract

Section: Discussionsupporting

confidence: 57%

Analysis of Nationwide Data to Determine the Incidence and Diagnosed Prevalence of Autosomal Dominant Polycystic Kidney Disease in the USA: 2013–2015

et al. 2019

View full text Add to dashboard Cite

show abstract

“…Definite pathogenic mutations accounted for 69.9% of all identified mutations in the present study, which was comparable to the results from the previously reported 45.1–66.6% in Caucasian populations [8, 17, 31], but higher than the 27.7–52.2% reported in Asian populations [25, 32]. Among the definite pathogenic mutations, the large deletion mutation was a special one that was detected by MLPA analysis [15].…”

Section: Discussionsupporting

confidence: 92%

“…Among these 93 mutations, 59.1% were reported for the first time, and the remaining 40.9% were recurrent mutations. The recurrence rate was higher than in previous reports, ranging from 16.7% to 30% in Caucasian populations [8, 17, 31]. …”

Section: Discussioncontrasting

confidence: 66%

Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease

Xu¹,

Ma²,

Gu³

et al. 2018

Kidney Blood Press Res

View full text Add to dashboard Cite

Background/Aims: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder with mutations in PKD1 or PKD2. This study aimed to identify novel PKD1 and PKD2 mutations in Chinese patients with ADPKD. Methods: Mutational analyses of both PKD genes were performed in 120 Chinese families with inherited ADPKD using long-range PCR and targeted next-generation sequencing approaches. Sanger sequencing was performed to check the positive mutations, while multiplex ligation-dependent probe amplification was adopted to examine those without mutations for the presence of large deletions. Results: A total of 93 mutations in PKD1 and PKD2 were identified in 98 Chinese families with ADPKD inheritance and the detection rate was 81.7% (98/120). The mutation rates of PKD1 and PKD2 were 91.4% (85/93) and 8.6% (85/93), respectively. Among the 93 mutations, 59.1% (55/93) were reported for the first time. A total of 65 mutations (26 nonsense, 33 frameshift, 2 large deletion, and 4 typical splicing mutations) were identified as definite pathogenic mutations. The remaining 28 mutations (21 missense, 3 in-frame deletion, and 4 atypical splicing mutations) were determined as probable pathogenic mutations. In addition, 9 de novo mutations were found by pedigree analysis. Correlation analysis between genotype and phenotype revealed that patients with PKD1 mutations or truncating mutations exhibited the most severe clinical outcome. Conclusion: The newly identified sites for known mutations will facilitate the early diagnosis and prediction of prognosis in patients with ADPKD, and provide fundamental genetic information for clinical intervention to prevent the inheritance of this disease in affected families.

show abstract

“…Population-based studies in a European population determined prevalence rates between 2.41 and 3.89/10,000 [12,13]. The European Renal Association and European Dialysis and Transplantation Association (ERA-EDTA) registry data provided prevalence data of 3.29/10,000 [14].…”

Section: Prevalencementioning

confidence: 99%

Clinical Manifestation and Management of ADPKD in Western Countries

Sommerer

Zeier²

2016

Kidney Dis

View full text Add to dashboard Cite

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease in Western countries. The prevalence is between 2.4/10,000 and 3.9/10,000. ADPKD represents a systemic disease resulting in deterioration in renal function. Until now, mutations in two genes (PKD1 and PKD2) have been identified. Recently, the European Medicines Agency (EMA) approved the use of the vasopressin V2 receptor antagonist tolvaptan to slow the progression of cyst development and renal insufficiency connected with ADPKD in adult patients with chronic kidney disease stages 1-3 at initiation of treatment with evidence of rapidly progressing disease. Whereas the EMA approved the release of tolvaptan, the US Food and Drug Administration (FDA) requested further data on side effects and the selection of patient cohorts who may benefit from treatment. Summary: This review focused on advances in the management and treatment of ADPKD in Western countries. Key Message: ADPKD represents the fourth most common cause of end-stage renal disease (ESRD) in Western countries. ADPKD is a multisystemic disease characterized by the progressive development of bilateral renal cysts, resulting in enlargement of the kidney volume due to cystic formations, hypertension, hematuria, and loss of renal function. ADPKD is associated with high inter- and intrafamilial variability in disease appearance and progression. Patients with PKD1 mutations typically have a more severe phenotype than those with PKD2 mutations. ADPKD is under intensive investigation. Vasopressin and the associated cyclic adenosine monophosphate-related signaling pathways have been demonstrated to be important contributors to cyst growth in ADPKD. Supportive treatments are recommended with the aim of reducing morbidity and mortality associated with disease manifestations. In the past years, several agents have been investigated in ADPKD patients, including mTOR inhibitors, somatostatin analogs, statins, and vasopressin V2 receptor antagonists. Facts from East and West: (1) ADPKD is diagnosed globally by ultrasound detection of kidney enlargement and presence of cysts. Recent analyses of variants of the PKD1 and PKD2 genes by next-generation sequencing in Chinese and Western ADPKD patients might lead to the development of reliable genetic tests. (2) Besides lifestyle changes (low-salt diet, sufficient fluid intake, and no smoking), blood pressure control is the primary nonspecific treatment recommended by Kidney Disease - Improving Global Outcomes (KDIGO) for ADPKD patients. How low the blood pressure target should be and what the means of achieving it are remain open questions depending on the severity of chronic kidney disease and the age of the patients. In a recent Chinese study, diagnostic needle aspiration and laparoscopic unroofing surgery successfully improved infection, pain, and hypertension. Peritoneal dialysis was found to be a feasible treatment for most Chinese ADPKD patients with ESRD. In most Western centers, patients without contraindicatio...

show abstract

Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany

Abstract: Prevalence of ADPKD is overestimated by 2- to 5-fold and close to the limit of RDs which may be of broad clinical, logistic and policy implications.

Cited by 85 publications

References 28 publications

Analysis of Nationwide Data to Determine the Incidence and Diagnosed Prevalence of Autosomal Dominant Polycystic Kidney Disease in the USA: 2013–2015

Analysis of Nationwide Data to Determine the Incidence and Diagnosed Prevalence of Autosomal Dominant Polycystic Kidney Disease in the USA: 2013–2015

Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease

Clinical Manifestation and Management of ADPKD in Western Countries

Contact Info

Product

Resources

About