Materiały źródłowe

• #1 Autosomal Dominant Polycystic Kidney Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK532934/

  Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of end-stage kidney disease (ESKD) worldwide, affecting approximately 500,000 people in the United States alone. […] ADPKD is a worldwide condition affecting all races, with a prevalence rate of diagnosed cases ranging from 1:400 to 1:1,000. […] About half and possibly as many as three-quarters of all patients affected develop end-stage kidney disease by the time they reach 70 years of age, constituting up to 10% of all patients with ESKD. […] End-stage kidney disease caused by ADPKD in African Americans is less common than in White Americans. […] The worldwide incidence is about 12.5 million individuals. […] Due to increased awareness, early detection, and hypertension treatment, the age of onset of ESKD has increased, and all-cause mortality has decreased.

• #2 Polycystic kidney disease (PKD) – Symptoms, causes, treatment | National Kidney Foundation

  https://www.kidney.org/kidney-topics/polycystic-kidney-disease

  Polycystic kidney disease (PKD) causes fluid-filled cysts in the kidneys, leading to kidney damage and failure. […] In the United States about 600,000 people have PKD, which is the fourth leading cause of kidney failure. […] It causes about 5% of all kidney failure. […] About 50% of people with PKD will have kidney failure by age 60, and about 60% will have kidney failure by age 70. […] Certain people have an increased risk of kidney failure including: Men, Patients with high blood pressure, Patients with protein or blood in their urine, Women with high blood pressure who have had 3 or more pregnancies.

• #3 Autosomal dominant polycystic kidney disease: genetics, epidemiology, | AGG

  https://www.dovepress.com/autosomal-dominant-polycystic-kidney-disease-genetics-epidemiology-and-peer-reviewed-fulltext-article-AGG

  ADPKD affects an estimated 600,000 individuals in the USA, with an incidence rate of approximately 1/500 to 1/1,000 individuals. The disease affects both sexes equally and all races and ethnicities. […] Up to 50% of patients with ADPKD require renal replacement therapy by the age of 60 years. Based on the 2013 US Renal Data System report, cystic kidney disease was the fourth most common cause for patients initiating renal replacement therapy in the USA between 2009-2011. […] A recent study based on the UK Renal Registry reported an incidence rate of 6.8% for adult ADPKD patients commencing renal replacement therapy between 2000 and 2011. […] A report from the European Renal Association European Dialyses and Transplant Registry based on data collected between 1991 and 2010 demonstrated little apparent improvement in postponing age at onset of end-stage renal disease over the past two decades. […] However, a slight improvement in ADPKD patient mortality was indicated by a UK General Practice Research Database study that showed a trend toward decreased mortality associated with increasing coverage and intensity of antihypertensive therapy.

• #4 Polycystic kidney disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/polycystic-kidney-disease/

  Polycystic kidney disease is a fairly common genetic disorder. It affects about 500,000 people in the United States. The autosomal dominant form of the disease is much more common than the autosomal recessive form. Autosomal dominant polycystic kidney disease affects 1 in 500 to 1,000 people, while the autosomal recessive type occurs in an estimated 1 in 20,000 to 40,000 people. […] Most cases of polycystic kidney disease have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the PKD1 or PKD2 gene in each cell. In about 90 percent of these cases, an affected person inherits the mutation from one affected parent. The other 10 percent of cases result from a new mutation in one of the genes and occur in people with no history of the disorder in their family.

• #5 Polycystic Kidney Disease (PKD) Market Size, Report 2034

  https://www.imarcgroup.com/polycystic-kidney-disease-market

  The polycystic kidney disease market has been comprehensively analyzed in IMARC’s new report titled „Polycystic Kidney Disease Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2025-2035”. […] According to the report, the United States has the largest patient pool for polycystic kidney disease and also represents the largest market for its treatment. […] Approximately 500,000 people in the United States suffer from PKD. […] ADPKD accounts for approximately 90% of all PKD cases. […] There is a 1:1000 reported frequency of ADPKD, which affects all races. […] The condition is more prevalent in men than in women. […] PKD is responsible for almost 10% of all end-stage renal disease. […] What is the number of prevalent cases (2019-2035) of polycystic kidney disease across the seven major markets?

• #6 Epidemiology of Autosomal Dominant Polycystic Kidney Disease: Implications for Genetic Counseling | SpringerLink

  https://link.springer.com/chapter/10.1007/978-1-4613-1603-9_12

  Among all hereditary renal diseases, autosomal dominant polycystic kidney disease (ADPKD) stands as the most common. […] The frequency of ADPKD is between 1 in 200 and 1 in 1000, and thus, it is estimated that between 250,000 to 1,000,000 people in the United States are afflicted with the disorder. […] Although the disorder is not confined to any specific ethnic or racial group and appears to be world-wide in distribution, there is a lower reported frequency in blacks. […] The disorder is of importance to the clinician not only because of its frequent occurrence, but also because of its myriad manifestations. […] Clinically, ADPKD is characterized by the development of renal cysts and extrarenal manifestations including gastrointestinal, cardiovascular and musculoskeletal abnormalities.

• #7 Autosomal dominant polycystic kidney disease (ADPKD) in adults: Epidemiology, clinical presentation, and diagnosis – UpToDate

  https://www.uptodate.com/contents/autosomal-dominant-polycystic-kidney-disease-adpkd-in-adults-epidemiology-clinical-presentation-and-diagnosis

  Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder, occurring in approximately 1 in 1000 live births. It is estimated that less than one-half of these cases will be diagnosed during the patient’s lifetime, as the disease is often clinically silent. […] ADPKD occurs in all races and has a reported prevalence of 1:1000. ADPKD is the underlying cause of kidney disease in approximately 5 percent of patients who initiate dialysis annually in the United States. […] Risk factors that have been identified for progressive kidney disease in ADPKD include genetic factors, kidney size, hypertension, early onset of symptoms, male sex, proteinuria, and high urinary sodium excretion. […] The epidemiology, clinical presentation, and diagnosis of ADPKD in adults will be reviewed here. The treatment of adults with this disease is discussed separately.

• #8 Orphanet: Autosomal dominant polycystic kidney disease

  https://www.orpha.net/en/disease/detail/730

  Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease, with estimated prevalence of 1/2,500 in Europe. […] Symptoms typically manifests in adulthood; however, approximately 2-5% of cases present before 15 years of age. […] Renal insufficiency is slowly progressive leading to ESKD by 60 years of age in approximately half of patients. […] Prognosis depends on the age of disease onset and the disease severity. Approximately half of affected individuals develop ESKD by 60 years of age.

• #9 Autosomal dominant polycystic kidney disease (ADPKD) in adults: Epidemiology, clinical presentation, and diagnosis – UpToDate

  https://www.uptodate.com/contents/autosomal-dominant-polycystic-kidney-disease-adpkd-in-adults-epidemiology-clinical-presentation-and-diagnosis/print

  Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder, occurring in approximately 1 in 1000 live births. It is estimated that less than one-half of these cases will be diagnosed during the patient’s lifetime, as the disease is often clinically silent. […] ADPKD occurs in all races and has a reported prevalence of 1:1000. ADPKD is the underlying cause of kidney disease in approximately 5 percent of patients who initiate dialysis annually in the United States. […] Risk factors that have been identified for progressive kidney disease in ADPKD include genetic factors, kidney size, hypertension, early onset of symptoms, male sex, proteinuria, and high urinary sodium excretion. […] The Mayo imaging classification is a simple tool that uses height-adjusted total kidney volume (htTKV) and age to identify patients at the highest risk for progression independent of kidney function.

• #10

  https://journals.lww.com/kidney360/fulltext/2021/12000/autosomal_dominant_polycystic_kidney_disease.18.aspx

  Among a large racially and ethnically diverse US population, the prevalence of diagnosed ADPKD between 2002 and 2018 was 42.6 per 100,000 persons. […] ADPKD prevalence (per 100,000) was higher in (non-Hispanic) White (63.2) and Black (73.0) patients compared with Hispanic (39.9) and Asian (48.9) patients. […] Given the variable penetrance of ADPKD, our findings suggest race may be a factor in the clinical presentation and diagnosis of ADPKD. […] The crude prevalence of ADPKD was 42.6 per 100,000 persons. Differences in prevalence were evident by race and ethnicity: 63.2, 73.0, 39.9, 48.9, and 9.4 per 100,000 persons for non-Hispanic White, Black, Hispanic, Asian/Pacific Islander, and other/unknown members, respectively; P<0.001. [...] Prevalence of ADPKD trended higher over the study period among all race and ethnicities from 19.5 in 2002 to 50.8 per 100,000 persons in 2018.

• #11

  https://journals.lww.com/kidney360/fulltext/2021/12000/autosomal_dominant_polycystic_kidney_disease.18.aspx

  Our study was performed within a real-world clinical environment of a large, racially and ethnically diverse population, and observed a crude ADPKD prevalence of 42.6 per 100,000 people. […] We observed differences in prevalence by race and ethnicity with ADPKD prevalence higher among Black members (73.0 per 100,000) and non-Hispanic White members (63.2), and lower among Asian/Pacific Islander (48.9) and Hispanic members (39.9). […] Our prevalence estimates are similar to other population-based estimates from Europe and the US. […] Our study is also one of the first evaluating ADPKD prevalence among different race and ethnicities, including Hispanic and Asian patients.

• #12

  https://journals.lww.com/cjasn/fulltext/2020/01000/epidemiology_of_autosomal_dominant_polycystic.12.aspx

  The prevalence of autosomal dominant polycystic kidney disease (ADPKD) remains controversial. […] The age- and sex-adjusted annual incidence of definite and likely ADPKD diagnosis during 1980-2016 was 3.06 (95% CI, 2.52 to 3.60) per 100,000 person-years, which is 2.2 times higher than that previously reported for 1935-1980 (1.38 per 100,000 person-years). […] The point prevalence of definite and likely ADPKD on January 1, 2010 was 68 (95% CI, 53.90 to 82.13) per 100,000 population. […] The point prevalence of definite and likely ADPKD observed in this study is higher than those reported in the literature, but lower than genetic prevalence based on estimates of disease expectancy or on analysis of large population-sequencing databases.

• #13 Polycystic kidney disease epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Polycystic_kidney_disease_epidemiology_and_demographics

  The prevalence of autosomal dominant polycystic kidney disease (ADPKD) is approximately 100 – 250 per 100,000 individuals in the United States. The prevalence of ADPKD varies in different countries. The prevalence of autosomal recessive polycystic kidney disease (ARPKD) is approximately 5 per 100,000 children in the United States. The incidence increases with age for ADPKD. ARPKD commonly affects infants and children. Males and females are equally affected by ADPKD. […] The prevalence of autosomal dominant polycystic kidney disease (ADPKD) is approximately 100 – 250 per 100,000 individuals in the United States. […] In 2013, the prevalence of autosomal dominant polycystic kidney disease was estimated to be 33 cases per 100,000 individuals in Germany. […] In 1998, the prevalence of autosomal dominant polycystic kidney disease was estimated to be 25 cases per 100,000 individuals in Japan.

• #14 Polycystic kidney disease epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Polycystic_kidney_disease_epidemiology_and_demographics

  In 1996, the prevalence of autosomal dominant polycystic kidney disease was estimated to be 90 cases per 100,000 individuals in France. […] In 1991, the prevalence of autosomal dominant polycystic kidney disease was estimated to be 41 cases per 100,000 individuals in United Kingdom. […] In 1957, the prevalence of autosomal dominant polycystic kidney disease was estimated to be 100 cases per 100,000 individuals in Denmark. […] The prevalence of autosomal recessive polycystic kidney disease (ARPKD) is approximately 5 per 100,000 children in the United States. […] The incidence of ADPKD increases with age; the average age at diagnosis is 30 – 50 years. […] ARPKD commonly affects infants and children. […] There is no racial predilection to autosomal dominant polycystic kidney disease. […] Autosomal dominant polycystic kidney disease affects men and women equally.

• #15 Polycystic Kidney Disease: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/244907-overview

  ADPKD affects approximately 4 to 7 million individuals and accounts for 7-15% of patients on kidney replacement therapy (KRT). In North America and Europe, ADPKD is responsible for 6-10% of KRT cases. Approximately one per 800-1000 population carries a pathogenic variant for this condition. Approximately 85-90% of those individuals have PKD1 pathogenic variants; most of the remainder have PKD2 disease-causing variants. […] ADPKD is slightly more severe in males than in females. Symptoms generally increase with age. Children very rarely present with advanced chronic kidney disease from ADPKD.

• #16 Autosomal Dominant Polycystic Kidney: Epidemiology

  https://www.webpathology.com/images/genitourinary/non-neoplastic-kidney/cystic-diseases-of-kidney/58262

  Epidemiology: Autosomal dominant polycystic kidney disease (ADPKD) is a common cystic kidney disease and the most common hereditary kidney disease. It occurs in 1 to 2 per 1000 live births. It is one of the leading causes of renal failure and accounts for 5% to 10% of patients on dialysis or renal transplantation list. Most patients are between 40-50 yrs. of age at presentation. It is inherited as an autosomal dominant disorder with complete penetrance (by age 80 years). About 25% of patients have no family history and represent new mutations. There is no sex or racial predilection.

• #17 Polycystic Kidney Disease: What’s Your ADPKD IQ?

  https://www.patientcareonline.com/view/polycystic-kidney-disease-whats-your-adpkd-iq

  Autosomal dominant polycystic kidney disease is the most common form of polycystic renal disease. Polycystic kidney disease is a common genetic disorder, affecting approximately 500 000 individuals in the US. The most common form is autosomal dominant polycystic kidney disease (ADPKD), which is characterized by progressive loss of kidney function, and often, end-stage renal disease (ESRD) later in life. ADPKD affects 1 in every 400 to 1000 people worldwide, by various estimates. The ADPKD mutation database now includes 1500 mutations of PKD1, followed by 250 mutations of PKD2. Ultrasound is the preferred initial approach to ADPKD diagnosis because it is non-invasive, low cost, and widely available. One of the main extrarenal manifestations of ADPKD is liver cysts, which can be found in 90% of patients aged 35 years. Patients with PKD1 mutations that are predicted to truncate the protein have the least favorable renal prognosis with a median age of 55.6 years at ESKD vs 67.9 years for patients with non-truncating mutations. Progression to kidney failure is not inevitable, especially in certain patients (eg, those with more favorable PKD2 genotype or with atypical polycystic kidney disease). […] In clinical practice, approved therapies should be used according to clinical trial enrollment criteria or restricted to those at risk of rapid renal progression.

• #18 Pediatric Polycystic Kidney Disease: Background, Etiology, Epidemiology

  https://emedicine.medscape.com/article/983281-overview

  Autosomal recessive polycystic kidney disease (ARPKD) occurs in about 1 in 20,000 live births, with a carrier rate of 1 in 70 individuals. The age at which symptoms appear can vary: roughly one third of patients show signs before the age of 1 year, another third between the ages of 1 and 20 years, and the remaining third after 20 years of age. […] The estimated prevalence of autosomal dominant polycystic kidney disease (ADPKD) is 1 case per 200-1000 population. ADPKD is responsible for 6-10% of cases of end-stage renal disease in North America. […] Both forms of polycystic kidney disease affect all racial and ethnic groups, and both equally affect males and females.

• #19 Polycystic Kidney Disease | 5-Minute Pediatric Consult

  https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617392/all/Polycystic_Kidney_Disease?q=Jaundice

  Polycystic kidney disease (PKD) is a heritable disorder with diffuse cystic involvement of both kidneys without other dysplastic elements. The term PKD is generally used to describe two genetically distinct syndromes: […] ADPKD is one of the most common human genetic disorders; the most common renal inherited disease. […] ADPKD is the 3rd leading cause of end-stage renal disease (ESRD) in adults (5% of all cases). […] The frequency of ADPKD is estimated to be 1 in 400 to 1,000. […] ARPKD has an incidence of 1 in 20,000 to 40,000 live births.

• #20 Autosomal Recessive Polycystic Kidney Disease | Doctor

  https://patient.info/doctor/autosomal-recessive-polycystic-kidney-disease

  Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common ciliopathies with kidney (nephromegaly, hypertension, renal dysfunction) and liver involvement (congenital hepatic fibrosis, dilated bile ducts). […] ARPKD is the most common genetic cystic renal disease occurring in infancy and childhood. However, it is nonetheless a rare disorder and is much less common than ADPKD. […] Studies suggest a prevalence of between 5-10 in 100,000 births (with carrier frequency of between 1 in 50-70).

• #21

  https://nccd.cdc.gov/ckd/TopicHome/AwarenessArchive.aspx?topic=25

  Prevalence of Polycystic Kidney Disease Among Medicare Beneficiaries Polycystic kidney disease (PKD) is a genetic condition that causes fluid-filled cysts to grow in the kidneys. […] Although rare, PKD is still the fourth leading cause of end stage kidney disease (ESKD) behind diabetes, hypertension, and glomerulonephritis, and accounts for 5% of all ESKD in the United States. […] Whether these older adults represent survivors of autosomal dominant PKD or represent milder forms of PKD, or both, requires further investigation.

• #22 Polycystic kidney disease (Causes, Symptoms and Treatment)

  https://patient.info/doctor/autosomal-dominant-polycystic-kidney-disease

  Clinical registry data show prevalence rates of diagnosed cases ranging from 1 in 543 to 1 in 4,000. Approximately 4-7 million individuals are affected in the world and account for 7% to 15% of patients on renal replacement therapy. […] It accounts for about 10% of people on dialysis. Annual incidence rates of end-stage kidney disease (ESKD) caused by ADPKD are between 6-8 per million per year in Europe. […] Sex incidence is equal although males may be slightly more seriously affected. […] There is no racial predilection.

• #23 Polycystic kidney disease – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/polycystic-kidney-disease/

  Polycystic kidney disease (PKD) is an inherited disorder characterized by the development of multiple cysts in the kidneys. There are two forms of PKD: autosomal dominant (ADPKD) and autosomal recessive (ARPKD). […] ADPKD: 1/1,000 […] The most common inherited cause of chronic kidney disease […] Responsible for 510% of end-stage renal disease (ESRD) […] ARPKD: 1/20,000 […] Prevalence: 140,000 patients with polycystic kidney disease in the US […] Epidemiological data refers to the US, unless otherwise specified. […] Hypertension, hematuria, and UTIs often precede kidney function decline. […] ESRD occurs in 60% of patients with ARPKD by 20 years of age and in 50% of patients with ADPKD by 60 years of age.

• #24 Overview of autosomal dominant polycystic kidney disease in the south of Spain | Nefrología

  https://www.revistanefrologia.com/en-overview-autosomal-dominant-polycystic-kidney-disease-in-south-spain-articulo-S201325141830035X

  Overview of autosomal dominant polycystic kidney disease in the south of Spain […] Although autosomal dominant polycystic kidney disease is the most common hereditary kidney disease, available data tend to be limited to after initiation of renal replacement therapy. […] To ascertain an overview of autosomal dominant polycystic kidney disease within the health area of Granada in southern Spain. […] 50.6% of the 1107 diagnosed patients were men. 99.1% were Caucasian and 46 generations/family were studied. The geographical distribution was heterogeneous. […] The mean age of diagnosis was 34.017.80 years and the diagnosis was made after having offspring in 57.7% of cases. […] The main reason for diagnosis was family history (46.4%). […] The mean age of initiation of renal replacement therapy was 54.211.05 years.

• #25 Autosomal dominant polycystic kidney disease | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/autosomal-dominant-polycystic-kidney-disease-1?lang=us

  Autosomal dominant polycystic kidney disease is one of the most common serious hereditary diseases, found in 1:400 to 1:1000 individuals, and is by far the most common inherited cause of end-stage renal failure (ESRF). It accounts for 4-10% of all cases of ESRF. […] Diagnosis is usually made by imaging at-risk individuals. […] The height-adjusted total kidney volume for both kidneys and the quantity of remaining normal renal tissue are the best indicators of future renal function and the need for vasopressin receptor antagonists.

• #26 Overview of autosomal dominant polycystic kidney disease in the south of Spain | Nefrología

  https://www.revistanefrologia.com/en-overview-autosomal-dominant-polycystic-kidney-disease-in-south-spain-articulo-S201325141830035X

  The main objective of our work is to analyze the epidemiology of ADPKD in our region to identify and design innovative health prevention strategies. […] The distribution by sex is homogeneous, 50.6% were males. […] A great majority of Caucasians (99.1%), blacks (0.5%) and gypsy (0.4%). […] The age of diagnosis of the disease was 3417.8 years (n=641). […] The main reason for diagnosis is family history in 46.4% of cases, followed by HTN (8.9%), chronic kidney disease (8.6%), abdominal-lumbar pain (7.4%), kidney stones (6.8%) and hematuria (4.6%). […] The mortality rate of polycystic patients is almost 3 times higher than that of the general population being cardiovascular death a frequent cause of death, thus early diagnosis is important. […] Early diagnosis along with a greater control of cardiovascular risk factors should improve life expectancy.

• #27 Overview of autosomal dominant polycystic kidney disease in the south of Spain | Nefrología

  https://revistanefrologia.com/en-overview-autosomal-dominant-polycystic-kidney-disease-in-south-spain-articulo-S201325141830035X

  96.3% of the deceased had some degree of renal failure at the time of death. […] The mean age of death was 60.914.10 years, the main cause of death being unknown in 33.5% of cases, followed by cardiovascular (27.8%). […] Cases and families were concentrated in certain geographical areas and a significant number of individuals were undiagnosed prior to cardiovascular death or diagnosed late after reproduction. […] Given that there is currently no curative treatment, the primary prevention strategy of preimplantation genetic diagnosis should play a leading role. […] The estimated prevalence is 1/80010,001. […] According to the Spanish Registry4 ADPKD is the sixth cause of renal replacement therapy (RRT). […] It is also the sixth cause of RRT in the Andalusia Region according to the information collected in the Information System of the Autonomous Transplant Coordination (SICATA).

• #28 Mortality risk in patients with autosomal dominant polycystic kidney disease | BMC Nephrology | Full Text

  https://bmcnephrol.biomedcentral.com/articles/10.1186/s12882-024-03484-3

  We also found racial differences in mortality in both non-ESRD CKD and ESRD cohorts, and in mortality risk in the ESRD cohort, among patients aged 65 years with ADPKD. […] The results of this study suggest a lower risk of death for communities of color with ADPKD and ESRD than for White patients, based on comparison of mortality rates in ESRD and non-ESRD cohorts. These data also suggest potential racial differences in mortality among patients aged 65 years with ADPKD in both non-ESRD CKD and ESRD cohorts, and a possible survivorship effect among Black patients aged 65 years with ADPKD.

• #29 Autosomal dominant polycystic kidney disease (ADPKD) in adults: Epidemiology, clinical presentation, and diagnosis – UpToDate

  https://www.uptodate.com/contents/autosomal-dominant-polycystic-kidney-disease-adpkd-in-adults-epidemiology-clinical-presentation-and-diagnosis

  The diagnosis is most commonly made in the settings of routine evaluation in an asymptomatic patient with a positive family history of ADPKD, initial work-up for new-onset hypertension, as an incidental finding during an imaging study performed for an unrelated reason, and during evaluation of ADPKD-specific symptoms. […] The initial step toward diagnosis of ADPKD is to obtain a detailed family history from the patient. The diagnosis of ADPKD is confirmed primarily by imaging. Genetic testing is generally reserved for atypical cases or to rule out ADPKD in a young potential kidney donor. […] Diagnostic counseling by experienced staff is essential for all patients with suspected ADPKD prior to diagnostic testing.

• #30 Autosomal dominant polycystic kidney disease (ADPKD) in adults: Epidemiology, clinical presentation, and diagnosis – UpToDate

  https://www.uptodate.com/contents/autosomal-dominant-polycystic-kidney-disease-adpkd-in-adults-epidemiology-clinical-presentation-and-diagnosis/print

  The diagnosis is most commonly made in the settings of routine evaluation in an asymptomatic patient with a positive family history of ADPKD, initial work-up for new-onset hypertension, as an incidental finding during an imaging study performed for an unrelated reason, and during evaluation of ADPKD-specific symptoms.

• #31 Polycystic kidney disease

  https://australianprescriber.tg.org.au/podcast/episode-141-polycystic-kidney-disease.html

  Recently genetic testing for polycystic kidney disease has become available through Medicare and can be requested by a clinical geneticist or a nephrologist to verify the diagnosis. […] The diagnosis of polycystic kidney disease can only be excluded in someone who has a negative ultrasound under the age of 40. […] The first-line treatment that’s used is either an angiotensin-converting enzyme inhibitor or an angiotensin receptor blocker. […] There was a very large randomised controlled trial that was undertaken in the United States where there was over 1000 patients studied for eight years. […] The recommended blood pressure target was found to be between 120 to 130 [mmHg] systolic and 70 to 80 diastolic. […] Tolvaptan became available for patients who’ve got rapidly progressing polycystic kidney disease on the 1 January 2019.

• #32

  https://www.nhs.uk/conditions/autosomal-dominant-polycystic-kidney-disease-adpkd/diagnosis/

  Autosomal dominant polycystic kidney disease (ADPKD) tends to be diagnosed in adults over 30 years of age because symptoms do not usually start before then. […] Screening people known to be at risk of developing ADPKD because they have a family history of the condition is a controversial issue in the medical community. […] Some argue that screening achieves little because there’s currently no treatment to stop ADPKD developing. […] Others argue that although you cannot prevent ADPKD, screening can help identify cysts, and it’s possible to treat the high blood pressure (hypertension) associated with ADPKD, which may reduce the person’s risk of developing cardiovascular disease. […] If the diagnosis is known, complications will not come as a surprise and can be treated promptly and appropriately. […] It’s important to be aware that neither test is entirely accurate and may not always detect ADPKD, even if you have the condition. […] Genetic testing is more sensitive and accurate in diagnosing ADPKD, but may be negative in 10% of people with ADPKD.

• #33 Polycystic kidney disease

  https://australianprescriber.tg.org.au/podcast/episode-141-polycystic-kidney-disease.html

  Each pregnancy has a one in two risk of a person developing polycystic kidney disease and it occurs in every generation. […] There’s a recommendation to perform a screening kidney ultrasound at the age of 18. […] The most common presentation is a young person who presents or is referred to a nephrologist with the presence of kidney cysts, early stage of disease, and is being assessed for what treatments are available or what to do. […] But the current clinical practice guidelines recommend screening in adulthood primarily because there’s not often an intervention that’s going to be introduced during childhood at this stage. […] One of the main things is that the diagnosis can be easily made with a screening kidney ultrasound, and the sensitiveness and specificity of making that diagnosis in an at-risk person with polycystic kidney disease almost approaches 100%.

• #34 Atypical Polycystic Kidney Disease as defined by Imaging | Scientific Reports

  https://www.nature.com/articles/s41598-022-24104-w

  In this large cohort study from a single geographic region, we documented a prevalence of atypical polycystic kidney disease by imaging of 8.8% (46/543) which is very similar to that reported in the discovery cohort used for the Mayo Clinic Imaging Classification. […] Compared to patients with typical imaging patterns, our patients with atypical imaging patterns were older, and less likely to have a family history of ADPKD, a detectable PKD1 or PKD2 mutation, or progression to CKD stage 3 or stage 5. Thus, patients with atypical polycystic kidney disease by imaging have an excellent prognosis with a very low risk for ESKD. […] Failure to appropriately identify patients with atypical patterns and incorrect Mayo Clinic Imaging Classification can lead to erroneous stratification of CKD risk.

• #35 Overview of clinical status, treatment, and long-term outcomes of pediatric autosomal-dominant polycystic kidney disease: a nationwide survey in Taiwan | Scientific Reports

  https://www.nature.com/articles/s41598-024-67250-z

  This retrospective study investigated the incidence, medication use, and outcomes in pediatric autosomal-dominant polycystic kidney disease (ADPKD) using Taiwan’s National Health Insurance Research Database (NHIRD). […] A total of 621 pediatric patients were identified from 2009 to 2019 (mean age, 9.516.43 years), and ADPKD incidence ranged from 2.32 to 4.45 per 100,000 individuals (cumulative incidence, 1.261.57%). […] Our study offers valuable insights into the epidemiology of pediatric ADPKD in Taiwan and could help in formulating guidelines for its appropriate management. […] The incidence of ADPKD and associated complications vary geographically, ethnically, and methodologically. […] However, there are no reports on the epidemiology and current characteristics of the pediatric ADPKD population in Taiwan.

• #36 Overview of clinical status, treatment, and long-term outcomes of pediatric autosomal-dominant polycystic kidney disease: a nationwide survey in Taiwan | Scientific Reports

  https://www.nature.com/articles/s41598-024-67250-z

  The prevalence of ADPKD in the pediatric population between 2008 and 2019 was 2.32 to 4.45 per 100,000 persons. […] The cumulative incidence rate of pediatric ADPKD from 2009 to 2019 was 1.261.57%. […] The incidence of newly developed hypertension was significantly higher among children with ADPKD from 2009 to 2018 than that among children without ADPKD (0.7 versus 0.04 per 100 person-years). […] The cumulative incidence of hypertension was significantly higher among children with ADPKD than in those without ADPKD. […] The incidence of nephrolithiasis among children with ADPKD was 0.4 per 100 person-years, which was significantly higher than that among children without ADPKD in (0.02 per 100 person-years). […] The incidence of proteinuria/albuminuria and hematuria were also significantly higher in children with ADPKD compared to those without ADPKD.

• #37

  https://link.springer.com/article/10.1007/s00467-024-06281-0

  The incidence of rare diseases is expected to be comparatively higher in the Middle East and North Africa (MENA) region than in other parts of the world, attributed to the high prevalence of consanguinity. […] Polycystic kidney diseases (PKDs) are the most common genetic causes of kidney failure, accounting for nearly 8.0% of dialysis cases. […] Autosomal recessive PKD (ARPKD) is the less common yet aggressive form of PKD. ARPKD has an estimated incidence between 1:10,000 and 1:40,000. […] Although limited data are available, the published literature suggests that the incidence of ARPKD may be higher in the MENA region due to consanguineous marriages. […] Patients with ARPKD from the MENA region usually present at a later disease stage and have a relatively short time to progress to kidney failure. […] Limited data are available regarding the management practice in the region, which warrants further investigations.

• #38 RAPID-ADPKD (Retrospective epidemiological study of Asia-Pacific patients with rapId Disease progression of Autosomal Dominant Polycystic Kidney Disease): study protocol for a multinational, retrospective cohort study | BMJ Open

  https://bmjopen.bmj.com/content/10/2/e034103

  Patients with autosomal dominant polycystic kidney disease (ADPKD) reach end-stage renal disease in their fifth decade on average. […] However, there are no epidemiological data on the clinical manifestations and disease progression of patients with ADPKD from the Asia-Pacific region. […] The RAPID-ADPKD (Retrospective epidemiological study of Asia-Pacific patients with rapId Disease progression of Autosomal Dominant Polycystic Kidney Disease) study is a multinational, retrospective, observational cohort study of patients with ADPKD in the Asia-Pacific region (Australia, China, Hong Kong, South Korea, Taipei and Turkey). […] The aim of this multinational, multicentre, retrospective cohort study was to determine the clinical characteristics of rapidly progressing patients with ADPKD in the Asia-Pacific region using the current recommendation for identification of rapid progression.

• #39 RAPID-ADPKD (Retrospective epidemiological study of Asia-Pacific patients with rapId Disease progression of Autosomal Dominant Polycystic Kidney Disease): study protocol for a multinational, retrospective cohort study | BMJ Open

  https://bmjopen.bmj.com/content/10/2/e034103

  This study will include patients with ADPKD from six different countries in the Asia-Pacific regionAustralia, China, Hong Kong, South Korea, Taiwan and Turkeyand hence will have heterogeneous ADPKD population consisting of different races, such as Han Chinese, Korean, Turks, Kurds, Taiwanese aborigines, Caucasians and so on. […] We expect to analyse the current status of patients with ADPKD in the Asia-Pacific region, such as the pattern of extrarenal complication, diagnosis, treatment and medical resource utilisation. […] The results will be presented in conferences and published in a journal, presenting data on the clinical characteristics, risk factors for disease progression and patterns of complications of ADPKD in Asian populations.

• #40 Polycystic kidney disease

  https://australianprescriber.tg.org.au/podcast/episode-141-polycystic-kidney-disease.html

  We’re seeing a lot more people who are progressing to kidney failure at a later stage of their life than their parents. […] There was a study that was done a few years ago which interrogated the genetic database of the general population and identified that the variants or the mutations that cause polycystic kidney disease occur in about one in every thousand people. […] In Australia, we don’t know exactly what the prevalence is because we don’t have a similar database or a registry, but we estimate that the same frequency of disease would apply here in Australia as well. […] So that would be about 25,000 Australians and about half will have disease or will develop disease that will lead to complications during their life and the other half will have a fairly benign course and may not even come to medical attention.

• #41 Overview of autosomal dominant polycystic kidney disease in the south of Spain | Nefrología

  https://www.revistanefrologia.com/en-overview-autosomal-dominant-polycystic-kidney-disease-in-south-spain-articulo-S201325141830035X

  Our group defends the strategy of primary prevention based on establishing the diagnosis of the disease before having offspring, genetic counseling and promoting the use of reproductive techniques that prevent the transmission of the disease such as Preimplantation Genetic Diagnosis already available in the public health system.

• #42 Polycystic kidney disease

  https://australianprescriber.tg.org.au/podcast/episode-141-polycystic-kidney-disease.html

  Studies over the last three decades identified that vasopressin also mediates the growth of cysts and this has been shown conclusively in cell culture models, animal models, and more recently in two clinical trials. […] The most common thing is after we’ve talked about the condition, what they can do about it for the future because there is obviously a lot of anxiety. […] It’s likely to have altered the natural history of polycystic kidney disease. […] All of these things have been shown in the last decade to slow down kidney cyst growth and when applied in the early stages of life, particularly in someone in their 20s, that can really alter the natural history of polycystic kidney disease. […] And it’s true to say that some patients may even avoid dialysis by instituting these interventions early in life.

• #43 UptoDate Treatments – Polycystic kidney disease | PKD treatment research | PKD Foundation

  https://pkdcure.org/research/research-medical-professionals/

  Epidemiology, clinical presentation, and diagnosis […] The Polycystic Kidney Disease Research Resource Consortium (PKD RRC), funded by The National Institutes of Diabetes, Digestive and Kidney Diseases (NIDDK), consists of three national Research and Translation Core Centers (RTCC) and a Central Coordinating Site. Their goal is to support a collaborative, diverse community of investigators who are working to advance discovery in the area of polycystic kidney disease.

• #44 Metformin Versus Standard of Care in Patients with Autosomal Dominant Polycystic Kidney Disease – A Randomized Control Trial – Indian Journal of Nephrology

  https://indianjnephrol.org/metformin-versus-standard-of-care-in-patients-with-autosomal-dominant-polycystic-kidney-disease-a-randomized-control-trial/

  Autosomal dominant kidney disease (ADPKD) is the most common monogenic disorder leading to renal failure with limited therapeutic options. […] Metformin appears to be safe and well tolerated in nondiabetic patients with ADPKD. […] The trial of administration of metformin to tame ADPKD (TAME PKD) was a multicenter phase 2 randomized double-blind trial that showed that metformin is safe, effective, and tolerable with slight reduction in eGFR decline at 2 years which was not statistically significant. […] Our study provides early data on the safety and tolerability of metformin amongst patients with ADPKD with few risk factors of rapid progression, for which few therapeutic options have been tested. […] Metformin appears to be safe and tolerable in nondiabetic Asian ADPKD population. The htTKV increase and eGFR decline were less in the metformin arm; however, it was not significantly different between the metformin and control groups. If proved effective in prolonged follow-up studies, metformin can be a useful cost-effective addition to the armamentarium of therapies for this condition.

• #45 Polycystic Kidney Disease Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2024-2034

  https://www.researchandmarkets.com/reports/5969793/polycystic-kidney-disease-market-epidemiology?srsltid=AfmBOoqIqmpPf3Wu4AxRAJsLno-MPJP4kBosYpVnwud1fcNKxkxL4KGX

  The 7 major polycystic kidney disease markets reached a value of US$ 358.2 Million in 2023. Looking forward, the publisher expects the 7MM to reach US$ 622.1 Million by 2034, exhibiting a growth rate (CAGR) of 6.33% during 2023-2034. […] This report provides an exhaustive analysis of the polycystic kidney disease market in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. […] According to the report the United States has the largest patient pool for polycystic kidney disease and also represents the largest market for its treatment. […] The report also provides the current and future patient pool across the seven major markets. […] What is the number of prevalent cases (2018-2034) of polycystic kidney disease across the seven major markets? […] What is the size of the polycystic kidney disease patient pool (2018-2023) across the seven major markets? […] What would be the forecasted patient pool (2024-2034) across the seven major markets? […] What are the key factors driving the epidemiological trend of polycystic kidney disease? […] What will be the growth rate of patients across the seven major markets?

• #46 Autosomal Dominant Polycystic Kidney Disease – Epidemiology Forecast – 2032

  https://www.researchandmarkets.com/reports/5524938/autosomal-dominant-polycystic-kidney-disease?srsltid=AfmBOorVFkXsG_cfB88_j0DQoc2B_PKQ01SzOaEkrrm02OY6q0FkiDB3

  Total diagnosed prevalent cases of Autosomal Dominant Polycystic Kidney Disease in the 7MM were found to be approximately 367,042 cases in the year 2021. The diagnosed prevalent cases of Autosomal Dominant Polycystic Kidney Disease are likely to change by 2032 in the forecast period 2022-2032. […] The United States accounted for approximately 142,709 diagnosed prevalent cases of Autosomal Dominant Polycystic Kidney Disease in the year 2021. […] In 2021, the total reported diagnosed prevalent cases of Autosomal Dominant Polycystic Kidney Disease in EU-5 countries were approximately 193,161 cases which are expected to rise by 2032. […] In 2021, the UK accounted for the highest number of Autosomal Dominant Polycystic Kidney Disease diagnosed prevalent cases (67,419), followed by France (61,282) among EU-5 countries. In contrast, Italy accounts for the lowest number of cases of Autosomal Dominant Polycystic Kidney Disease diagnosed prevalent population in EU-5. […] As per the analysis, in Japan, Autosomal Dominant Polycystic Kidney Disease cases in the age groups 5, 5-14, 15-24, 25-44, 45-64, and 65 years were observed to be approximately 62, 62, 125, 3,429, 19,576, and 7,918, respectively in 2021. The age-specific cases are expected to change by 2032.

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