Materiały źródłowe

• #1 ADPKD – Polycystic kidney disease | PKD treatment research | PKD Foundation

  https://pkdcure.org/what-is-adpkd/

  Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common and serious genetic conditions. In ADPKD, fluid-filled cysts gradually develop and grow in both kidneys, eventually leading to kidney failure. Its the fourth leading cause of kidney failure, with more than 50% of patients facing this challenge by the age of 60. […] ADPKD is a painful condition that can significantly affect quality of life. […] There are often few or no symptoms early in the disease. As it progresses, people may experience high blood pressure, kidney pain, bloody urine, urinary tract infections, and kidney stones.

• #2 ADPKD – Polycystic kidney disease | PKD treatment research | PKD Foundation

  https://pkdcure.org/about-the-disease/adpkd/

  Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common and serious genetic conditions. In ADPKD, fluid-filled cysts gradually develop and grow in both kidneys, eventually leading to kidney failure. Its the fourth leading cause of kidney failure, with more than 50% of patients facing this challenge by the age of 60. […] ADPKD is a painful condition that can significantly affect quality of life. […] As it progresses, people may experience high blood pressure, kidney pain, bloody urine, urinary tract infections, and kidney stones.

• #3 Autosomal Dominant Polycystic Kidney Disease: From Pathophysiology of Cystogenesis to Advances in the Treatment

  https://www.mdpi.com/1422-0067/23/6/3317

  Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited disorder that typically presents in adults. Both kidneys are affected by cysts, leading to end stage renal disease in adulthood. ADPKD is a progressive disease, leading to chronic kidney disease (CKD) and finally results in end-stage renal disease (ESRD). ESRD requiring renal replacement therapy (RRT) develops by the age of 70 years in up to 70% of patients with ADPKD. Cysts gradually grow due to abnormal cell proliferation, fluid secretion and production of extracellular matrix. Some patients suffer from chronic pain because of cyst enlargement, acute pain can be caused by cyst infection or colic pain by nephrolithiasis. Arterial hypertension is present in 75% of patients with normal renal function from an early age. Cyst expansion is associated with intrarenal ischemia leading to the activation of renin-angiotensin-aldosterone system. Increased left ventricle mass was reported even in young normotensive ADPKD patients which is associated with higher cardiovascular mortality. ADPKD is a systemic disease because polycystins are expressed in many tissues. The systemic and multiorgan nature of ADPKD manifests by the occurrence of cysts in extrarenal organs such as the liver, pancreas and spleen, as well as by other affected organs such as cardiovascular abnormalities and brain vessel aneurysms. Polycystic liver disease is the most common extrarenal comorbidity accompanying ADPKD.

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

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

  Autosomal dominant polycystic kidney disease (ADPKD) is characterized by clusters of fluid-filled cysts in both kidneys, associated with a gradual decline in renal function. […] ADPKD is a multisystem and progressive disease with bilateral renal cyst formation associated with kidney enlargement and other organ involvement, such as the heart, liver, pancreas, spleen, and arachnoid membranes. […] In the adult population, ADPKD occurs in all races and is responsible for 6% to 10% of all patients on dialysis in the United States. […] Clinical manifestations do not typically appear until the third or fourth decade of life. […] The most common clinical presentations are hypertension, anemia, liver cysts, hematuria, flank pain, abdominal masses, urinary tract infections, renal failure, nephrolithiasis, and renal cancers.

• #5 Autosomal Dominant Polycystic Kidney Disease: From Pathophysiology of Cystogenesis to Advances in the Treatment

  https://www.mdpi.com/1422-0067/23/6/3317

  ADPKD is caused by mutations in 2 genes: PKD1 (16p13.3) and PKD2 (4q22.1). The germline mutations in PKD1 gene are present in about 80% of the ADPKD patients, mutations in PKD2 gene in the remaining 15% of ADPKD patients. […] Strict control of hypertension is the most important therapeutical option. Hypertension often presents in children and young adults with ADPKD and later promotes decline of renal function. The goal blood pressure should be less than 110/75 mm Hg in younger people than 50 years with eGFR above 60 mL/min per 1.73 m². The HALT study confirmed that the strict control of blood pressure decreases the mass of left ventricle, renal vascular resistance, proteinuria and kidney volume. […] Tolvaptan is a selective arginine vasopressin type 2 receptor antagonist. Tolvaptan reduced the progression of kidney function decline in ADPKD in animal models. Two multicentric, randomized, placebo-controlled trials evaluated the safety and efficacy of tolvaptan in ADPDK patients. Tolvaptan reduced an increase in kidney volume a 2.8% per compared with a 5.5% per year increase in the placebo group over the 3-year study period. Tolvaptan also slowed a decline in kidney function, as measured by reciprocal of serum creatinine level, compared with placebo.

• #6 Autosomal Dominant Polycystic Kidney Disease – NIDDK

  https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/autosomal-dominant-pkd

  Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of PKD. Health care providers usually diagnose ADPKD between the ages of 30 and 50, when signs and symptoms start to appear, which is why it is sometimes called adult PKD. […] Health care providers can diagnose people with PKD1 sooner because their symptoms appear sooner. People with PKD1 also usually progress more quickly to kidney failure than people with PKD2. How quickly ADPKD progresses also differs from person to person. […] Most people with ADPKD have pain, high blood pressure, and kidney failure at some point in their lives. […] Kidney failure means your kidneys no longer work well enough to stay healthy. Untreated kidney failure can lead to coma and death. More than half of people with ADPKD progress to kidney failure by age 70.

• #7 Autosomal Dominant Polycystic Kidney Disease: Symptoms, Diagnosis, and Treatment

  https://www.webmd.com/digestive-disorders/autosomal-dominant-polycystic-kidney-disease

  Over time, cysts may grow big enough to damage your kidneys and, for some people, can cause them to fail. If that happens, you may have: Fatigue; The need to pee often; Irregular periods; Nausea; Shortness of breath; Swollen ankles, hands, and feet; Erectile dysfunction. […] Cysts often grow very slowly. They can grow even slower when you control your blood pressure and make healthy lifestyle choices. But after many years, they can get large enough to damage your kidneys. As time goes on, some people have kidney failure and need dialysis or a kidney transplant. […] How quickly the disease gets worse may depend on which of your two PKD genes is broken. People with a defect in the PKD1 gene tend to get kidney failure before those with a problem in PKD2.

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

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

  Most people do not develop symptoms until they are 30 to 40 years old. […] High blood pressure is the most common sign of PKD. Occasionally, patients may develop headaches related to high blood pressure or their doctors may detect high blood pressure during a routine physical exam. […] Symptoms usually begin between the ages of 30 and 40, but they can begin earlier, even in childhood. […] About 50% of people with PKD will have kidney failure by age 60, and about 60% will have kidney failure by age 70.

• #9 Autosomal Dominant Polycystic Kidney Disease – NIDDK

  https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/autosomal-dominant-pkd

  In many cases, ADPKD doesn’t cause signs or symptoms until cysts are a half inch or larger in size. The most common symptoms are pain in the back and sides, between the ribs and hips, and headaches. The pain can be short term or ongoing, mild or severe. […] Hematuria, or blood in the urine, may be a sign of ADPKD. If you have hematuria, see a health care provider right away. […] Although a cure doesn’t exist yet for ADPKD, treatment can help reduce your complications, which can help you live longer. […] ADPKD can eventually cause your kidneys to fail. People with kidney failure must have dialysis or a kidney transplant to replace their kidney function.

• #10

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

  Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small fluid-filled sacs called cysts to develop in the kidneys. […] Although children affected by ADPKD are born with the condition, it rarely causes any noticeable problems until the cysts grow large enough to affect the kidneys’ functions. […] In most cases, this does not occur until a person is between 30 and 40 years of age. […] Less commonly, children or older people may have noticeable symptoms as a result of ADPKD. […] When ADPKD reaches this stage, it can cause a wide range of problems, including: tummy (abdominal) pain, high blood pressure (hypertension), blood in the urine (haematuria), which may not always be noticeable to the naked eye, potentially serious upper urinary tract infections (UTIs), kidney stones.

• #11 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. The renal phenotype ranges from patients in advanced age with preserved kidney function to rare cases of enlarged kidneys that are detected in utero. Clinical symptoms, including early-onset hypertension, abdominal fullness and pain, hematuria and urinary tract infections (UTIs), are usually observed decades before the onset of renal insufficiency. Renal insufficiency is slowly progressive leading to ESKD by 60 years of age in approximately half of patients. Up to a third of adult patients have nephrolithiasis. […] Prognosis depends on the age of disease onset and the disease severity. Approximately half of affected individuals develop ESKD by 60 years of age. Presence of proteinuria and arterial hypertension in affected children correlate with much more severe disease progression.

• #12 Polycystic Kidney Disease Outcomes Consortium

  https://c-path.org/program/polycystic-kidney-disease-outcomes-consortium/

  Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a debilitating genetic disease affecting more than 600,000 Americans and 12 million people worldwide. […] The clinical course of kidney disease in ADPKD is typically marked by a long period of stable glomerular filtration rate (GFR) due to hyperfiltration despite the continuous expansion of height-adjusted total kidney volume (htTKV) due to the growth of cysts. […] Total Kidney Volume is a measurement of the size of the kidneys and has been shown to be predictive of a future decline in kidney function. […] The use of TKV as a biomarker—along with the patient’s age and baseline eGFR—can help those conducting clinical trials in finding appropriate candidates, potentially improving the accuracy and efficiency of those trials. […] Baseline Total kidney volume is predictive of kidney function decline regardless of age or baseline kidney function.

• #13 Autosomal dominant polycystic kidney disease: updated perspectives | TCRM

  https://www.dovepress.com/autosomal-dominant-polycystic-kidney-disease-updated-perspectives-peer-reviewed-fulltext-article-TCRM

  Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the progressive development and growth of numerous bilateral renal cysts, resulting in numerous abnormalities, the most important one being the loss of renal function. […] Approximately 70% of patients with ADPKD progress to end-stage renal disease (ESRD) at a median age of 58 years, making it the fourth leading cause of end-stage renal disease (ESRD) in the US and globally. […] The gradual expansion of renal cysts in ADPKD can be measured as increased total kidney volume (TKV). […] The CRISP study also emphasizes the association between large kidney volume and kidney complications and found that higher TKV is associated with several ADPKD complications, including proteinuria, microalbuminuria, hypertension, gross hematuria, and progressive loss of kidney function.

• #14

  https://link.springer.com/article/10.1007/s10157-012-0611-9

  Autosomal dominant polycystic kidney disease is a lifelong progressive disorder. […] The declining rate of eGFR was relatively constant and did not correlate with age or eGFR after adolescence. […] eGFR starts to decline in patients with normal eGFR, suggesting that the decline starts earlier than previously thought. […] Progressive deterioration of renal function and enlargement of renal cysts are two hallmarks of autosomal dominant polycystic kidney disease (ADPKD). […] The present study confirmed that renal function decreased progressively as a function of age. […] In relatively younger adult (29.9 11.4 years) patients whose renal function was retained (CKD stage 1), the eGFR slope was already negative. […] The important finding in the present study is that declining rates of eGFR and increasing rates of TKV are not significantly different between normal blood pressure and high blood pressure patients after around 20 years.

• #15

  https://link.springer.com/article/10.1007/s10157-012-0611-9

  The present study shows a negative eGFR slope and the study showed decreased renal plasma flow in similar younger adult patients who maintained apparently normal GFR. […] In conclusion, eGFR starts to decline in young adult patients with apparently normal eGFR. After adolescence, the declining rate of eGFR is relatively constant and does not relate to age or GFR.

• #16 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. […] Patients with PKD2 have a less severe phenotype than those with PKD1, but neither disorder is benign. Cysts occur later in PKD2 disease, as does end-stage kidney disease (ESKD; mean age 74.0 versus 54.3 years in PKD1). […] Risk factors for progressive kidney disease in ADPKD include the causative gene mutation within the context of family history, male sex, onset of symptoms at an early age, kidney size, presence of hypertension, proteinuria, and high urinary sodium excretion. […] Patients with ADPKD may be asymptomatic or present with hypertension, hematuria, proteinuria, or kidney function impairment, detected by routine laboratory examination. Flank pain due to kidney hemorrhage, calculi, or urinary tract infection are the most common symptoms reported by patients.

• #17 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

  Hypertension is present in the majority of patients who have normal kidney function and have reached the fourth decade of life; the prevalence of hypertension increases to almost 100 percent among patients with ESKD. […] Patients who present with symptoms at an early age are more likely to develop ESKD. In one study, patients diagnosed before the age of 30 years had a mean kidney survival that was 10 years less than those diagnosed after the age of 30 years. […] 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.

• #18 Progression

  https://pkdcharity.org.uk/adpkd/treatment/progression

  High blood pressure […] Pain […] Urinary Tract Infections […] Polycystic liver disease […] Brain aneurysms […] Blood in the urine […] Kidney stones […] Diverticular disease […] Overactive parathyroid glands (hyperparathyroidism) […] If you have ADPKD, the size and number of kidney cysts you have will gradually increase over the years. This will make your kidneys grow bigger. The cysts will start to damage some of your healthy kidney tissue, which has less room. […] Although damaged tissue cant filter as much blood as normal, the healthy parts of your kidney will make up the work for many years. […] At some point, there wont be enough healthy tissue to do all the work your kidneys are meant to do. This is known as chronic kidney disease (CKD). Until your kidney function gets very low, you probably wont have many symptoms.

• #19 Autosomal Dominant Polycystic Kidney Disease (ADPKD) – Genitourinary Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/genitourinary-disorders/cystic-kidney-disease/autosomal-dominant-polycystic-kidney-disease-adpkd

  Renal failure develops in 35 to 45% of patients with autosomal dominant polycystic kidney disease (ADPKD) by age 60. By age 75, 50 to 75% of patients require renal replacement therapy (dialysis or transplantation). On average, glomerular filtration rate (GFR) declines by about 5 mL/minute/year after the fourth decade of life. […] About half of patients have no manifestations, but in others symptoms of back or abdominal pain, hematuria and/or hypertension develop gradually, usually beginning before age 30; 35 to 45% develop renal failure by age 60.

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

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

  Polycystic kidney disease is an inherited disease that involves bilateral kidney cysts. ADPKD is the most frequent genetic cause of chronic kidney disease (CKD) in adults, accounting for 6-10 % of patients on dialysis in the United States. It is a multisystemic and progressive disorder characterized by cyst formation and enlargement in the kidney and other organs (eg, liver, pancreas, spleen). Clinical manifestations usually begin in the third to fourth decade of life, but cysts may be detectable in childhood and in utero. Up to 50% of patients with ADPKD require kidney replacement therapy (KRT) by 60 years of age. […] ADPKD is a multisystem disorder. Multiple kidney and extrarenal manifestations have been described that cause significant complications. Pain in the abdomen, flank, or back is the most common initial complaint, and it is almost universally present in patients with ADPKD. Dull aching and an uncomfortable sensation of heaviness may result from a large polycystic liver.

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

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

  Hypertension is the most universal and earliest clinical presentation in most patients with ADPKD. […] About 50% of patients with ADPKD will develop ESKD by 70 years, and possibly up to 75%. […] A Canadian study reported that 25% of patients with ADPKD had ESKD by 47 years, 50% by 59 years, and 75% by 70 years. […] Overall life expectancy for patients with ADPKD is 53 to 70 years. […] End-stage kidney disease requiring dialysis or renal transplantation is the most common complication of ADPKD.

• #22 A model to predict disease progression in patients with autosomal dominant polycystic kidney disease (ADPKD): the ADPKD Outcomes Model | BMC Nephrology | Full Text

  https://bmcnephrol.biomedcentral.com/articles/10.1186/s12882-017-0804-2

  Autosomal dominant polycystic kidney disease (ADPKD) is the leading inheritable cause of end-stage renal disease (ESRD); however, the natural course of disease progression is heterogeneous between patients. […] A cohort with baseline patient characteristics consistent with TEMPO 3:4 was predicted to reach ESRD at a mean age of 52 years. Most patients (85%) were predicted to reach ESRD by the age of 65 years, with many progressing to ESRD earlier in life (18, 36 and 56% by the age of 45, 50 and 55 years, respectively). […] The ADPKD-OM represents a robust tool to predict natural disease progression and long-term outcomes in ADPKD patients, based on readily available and/or measurable clinical characteristics. […] The social and economic burden of ADPKD on patients and healthcare systems is largely driven by the incurable deterioration of kidney function, and the provision of RRT to patients who ultimately progress to ESRD.

• #23

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

  The symptoms of autosomal dominant polycystic kidney disease (ADPKD) are caused by the growth of fluid-filled sacs (cysts) in the kidneys. […] Although ADPKD is present from birth, it may not cause any obvious problems until the cysts have reached a size where they significantly affect how well your kidneys work. […] The growth of the cysts can eventually cause your kidneys to increase in size. […] The kidneys of older adults with ADPKD can get much larger than those of adults who do not have the condition. […] Pain in the abdomen, side or lower back is often the first noticeable symptom of ADPKD. […] Blood in your urine (haematuria) is another common initial symptom of ADPKD. […] Many experts consider high blood pressure to be the first effect of ADPKD, but as it often does not cause any obvious symptoms, it’s only usually detected during routine testing.

• #24 Autosomal Dominant Polycystic Kidney Disease | AAFP

  https://www.aafp.org/pubs/afp/issues/2014/0901/p303.html

  Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of kidney disease. Enlarging cysts within the kidneys are the clinical hallmark of the disease. Renal manifestations include varying degrees of kidney injury, urinary tract infections, kidney stones, and hematuria. […] Many patients with ADPKD are asymptomatic, and only a few patients will present early with symptoms such as abdominal or flank pain, macroscopic hematuria, or urinary tract infections. […] Pain is the most common symptom in those with ADPKD and may present as back, chest, abdominal, or flank pain, or a combination. […] Nephrolithiasis is twice as common in those with ADPKD (lifetime prevalence of approximately 20%) than in the general population. […] Gross hematuria occurs in more than 40% of persons with ADPKD and is a risk factor for the rapid progression of renal dysfunction, especially if it occurs before 30 years of age. […] All patients with ADPKD develop a progressive loss of renal function, with nearly 80% of patients dying or developing end-stage renal disease by 70 years of age.

• #25 Polycystic Kidney Disease Clinical Presentation: History, Physical Examination, Complications

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

  Autosomal dominant polycystic kidney disease (ADPKD) is a multisystem disorder. Patients may present with multiple kidney and extrarenal manifestations. […] Pain in the abdomen, flank, or back is the most common initial complaint, and it is almost universally present in patients with ADPKD. The pain can be caused by any of the following: Enlargement of one or more cysts, Bleeding, which may be confined inside the cyst, or lead to gross hematuria with passage of clots or a perinephric hematoma, Urinary tract infection and cyst infection, Nephrolithiasis and renal colic, Rarely, a coincidental hypernephroma. […] In addition to pain, other physical symptoms that patients with early-stage ADPKD may report include fatigue, breathlessness, weakness, and malaise. […] Hematuria frequently is the presenting manifestation and usually is self-limited, lasting 1 week or less. Polycystic kidneys are unusually susceptible to traumatic injury, with hemorrhage occurring in approximately 60% of affected individuals.

• #26 Patient education: Polycystic kidney disease (Beyond the Basics) – UpToDate

  https://www.uptodate.com/contents/polycystic-kidney-disease-beyond-the-basics

  High blood pressure — High blood pressure is a common feature of ADPKD, occurring in 60 to 70 percent of patients with normal kidney function by the age of 29 years. Over 90 percent of patients will have high blood pressure by the time they reach end-stage kidney disease. […] Kidney infection — Approximately 30 to 50 percent of people with ADPKD will have at least one cyst infection during their lifetime. The primary symptoms of a kidney infection in people with ADPKD are fever and flank pain. […] Blood in the urine — Hematuria (blood in the urine) occurs in 35 to 50 percent of people with ADPKD and may be the first sign of the disease. […] Kidney stones — Kidney stones occur in up to 25 percent of people with ADPKD. […] Flank and abdominal pain — Pain is the most common feature of ADPKD, and patients typically underreport their discomfort. At least 30 percent of patients have some flank or abdominal discomfort all of the time. People with ADPKD often develop flank and abdominal pain that is not related to infection, bleeding into a cyst, or a kidney stone. The pain is often dull and persistent and is thought to be caused by stretching of the wall of a cyst or pressure on other organs when the kidneys and/or liver are very large. This is the most common symptom in patients with ADPKD.

• #27 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Complications-of-Polycystic-Kidney-Disease-(PKD).aspx

  Most patients with AKPKD complain of pain at some point, and it is often the presenting symptom. Possible causes of acute pain may be a hemorrhage into a cyst or renal calculi with or without obstruction. Chronic pain occurs more often due to cyst infection, urinary tract infections or cyst growth causing stretching of the renal capsule. […] While hypertension complicates ADPKD in approximately half the cases at initial presentation, kidney function is usually clinically normal at this stage. However, once renal insufficiency and failure sets in, almost all patients develop severe hypertension. This may be marked by symptoms such as dizziness, vomiting, dyspnea, diplopia and headache. […] Early occurrence of renal insufficiency may also occur due to abnormal renal architecture, inefficient countercurrent multiplication, poor solute and ammonia sequestration in the renal medulla.

• #28 ADPKD basics

  https://pkdcharity.org.uk/adpkd/what-is-adpkd/adpkd-basics

  About 6 in every 10 people with ADPKD get a bleeding cyst or blood in their urine (known as haematuria) at some point. Blood in the urine can happen for a variety of reasons, such as a cyst bleeding, a kidney stone, a cyst infection or damage to the kidney caused by a big knock. […] Six out of every 10 people with ADPKD have long-term pain (chronic pain). The first step to treating pain is to find the cause. When the cause can’t be resolved, medications, psychological approaches and manual therapies can help to manage pain. […] Most people with ADPKD find that their kidneys fail between the age of 40 and 70 years old. In advance of this happening, you and your kidney specialist will plan for you to have a kidney transplant or start dialysis. […] Although ADPKD causes damage to the kidneys, any remaining healthy tissue will continue to work well, usually for decades. People with reduced kidney function usually only get symptoms when their kidney function becomes quite poor. Your kidney specialist will keep a close eye on your kidney function using blood tests and scans.

• #29 Polycystic kidney disease – Symptoms, Causes, Types,Treatment PACE Hospitals – Best Hospitals in Hitech City, Hyderabad, India | Near Madhapur, Kukatpally, KPHB, Kondapur, Gachibowli, Jubilee Hills, Banjara HillsPACE Hospitals Contact Num

  https://www.pacehospital.com/polycystic-kidney-disease-types-symptoms-causes-prevention-treatment

  Another recognized negative consequence of ADPKD is hepatic cysts, which are more common as people age. The frequency rises with age, with a 10%–20% prevalence up to the age of 30 and up to 50%–70% in people over 60. […] Yes, polycystic kidney disease (PKD) can induce pain, which occurs in around 60% of people with autosomal dominant PKD (ADPKD). The discomfort can be dull and continuous, or it can be temporary. It frequently arises in the side or back and can be felt as pressure on other organs or stretching of the cyst wall.

• #30

  https://journals.lww.com/kidney360/fulltext/2024/08000/mental_health_and_autosomal_dominant_polycystic.21.aspx

  Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder marked by the development of cysts in the kidneys and other organs, leading to diverse clinical manifestations, including kidney failure. […] The clinical presentation of ADPKD is highly variable. While many patients remain asymptomatic and might be diagnosed incidentally during abdominal imaging for other indications, others might experience frequent back or flank pain due to cyst hemorrhage, cyst infection, nephrolithiasis, or chronic pain related to enlarged kidneys. […] Studies have reported that pain is an important but often overlooked symptom in patients with ADPKD and can contribute to a lower quality of life (QoL) and a high risk of experiencing depression and anxiety. […] As the progression of ADPKD advances, there is decline in QoL, accompanied by increases in pain, anxiety, and depression.

• #31 What Are the Stages of ADPKD?

  https://www.webmd.com/a-to-z-guides/adpkd-stages

  Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder that causes fluid-filled cysts to grow in your kidneys. […] ADPKD is progressive, which means it gets worse over time. In fact, it often results in chronic kidney disease, a gradual loss of kidney function. […] As your ADPKD gets worse, you may get chronic kidney disease, which has five stages. […] You may feel more pain and notice your belly is fuller as your kidney cysts get bigger and your eGFR gets lower. Pain can also lead to depression, which is common in people who have ADPKD. […] This is considered advanced kidney disease. You’ll likely have problems with swelling, pain, and peeing a lot that started for some people in stage 3. You may also have other health problems due to waste buildup in your blood.

• #32 Polycystic Kidney Disease Clinical Presentation: History, Physical Examination, Complications

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

  Hypertension is one of the most common early manifestations of ADPKD. Even when kidney function is normal, hypertension has been found in 50-75% of patients. […] The clinical course of hypertension in ADPKD is very unlike that of hypertension in chronic glomerulonephritis or tubulointerstitial nephropathies. In ADPKD, the hypertension is usually more severe early in the course of the disease and becomes less problematic as the kidney insufficiency progresses. […] Kidney failure is the most frequent complication of ADPKD. The prevalence of hypertension increases with age, with a rate of approximately 85% in patients starting kidney replacement therapy (KRT). […] Nephrolithiasis occurs in 20-30% of patients with ADPKD. Consider this condition in patients with acute pain and hematuria.

• #33 Autosomal Dominant Polycystic Kidney Disease Symptoms | Autosomal Dominant Polycystic Kidney Disease

  https://resources.healthgrades.com/right-care/kidney-disease/6-signs-of-autosomal-dominant-polycystic-kidney-disease

  Autosomal dominant polycystic kidney disease, or ADPKD, is a genetic disorder that affects the way your kidneys function. This condition causes numerous fluid-filled cysts to develop within your kidneys. As they grow in size and number, they can interfere with your kidneys’ ability to filter waste products from your blood, which can lead to serious problems. […] Though some people experience symptoms during childhood, most cases of ADPKD are diagnosed between ages 30 and 50. Reach out to your doctor if you experience any of the following signs of ADPKD. […] Your kidneys play a key role in keeping your blood pressure levels stable, but when ADPKD cysts get larger and more numerous, the kidneys aren’t able to perform this job. That’s why the majority of people with ADPKD will experience high blood pressure. This is often an early sign of ADPKD, even before you have any significant change in your kidney function.

• #34

  https://111.wales.nhs.uk/encyclopaedia/k/article/kidneydisease,autosomaldominantpolycystic/

  Blood in your urine (haematuria) is another common initial symptom of ADPKD. […] Many experts consider high blood pressure to be the first effect of ADPKD but as it often does not cause any obvious symptoms, it’s only usually detected during routine testing. […] Having ADPKD puts you at increased risk of developing kidney stones. […] Urinary tract infections (UTIs) are broadly classified into 1 of 2 groups: lower UTIs and upper UTIs. […] Most people with ADPKD will eventually lose a significant amount of kidney function. […] CKD does not usually cause symptoms until it’s reached an advanced stage, known as CKD stage 4, when 75% of kidney function has been lost. […] Symptoms of kidney failure include: poor appetite and weight loss; swollen ankles, feet or hands (oedema); shortness of breath; an increased need to pee, particularly at night; itchy skin; feeling sick; in men, erectile dysfunction; in women, absent periods (amenorrhoea); difficulty concentrating.

• #35 ADPKD Progression: Risks, Slowing It Down, and More

  https://www.healthline.com/health/adpkd/adpkd-disease-progression-risks-and-slowing-it-down

  Common symptoms include: […] High blood pressure is sometimes the first sign of ADPKD. Growing cysts can constrict blood vessels, making it harder for blood to flow properly. […] Cysts can also affect the flow of urine, causing urine to remain in the body for a longer period of time. […] Cysts can also block the tubes that help kidneys filter waste and urine. If the kidneys cant filter waste properly, crystals can form inside, causing a kidney stone. Symptoms of a kidney stone include severe abdominal pain and vomiting. […] Pain is another symptom of ADPKD. Cysts and enlarged kidneys can put pressure on tissues and other organs in your body. This can cause pain in your abdomen, side of your body, or back. […] Some people also see traces of blood in their urine. The blood can be red, pink, or brown. This is sometimes due to a ruptured cyst or a ruptured blood vessel around a cyst. A urinary tract infection (UTI) can also cause blood in your urine.

• #36 Autosomal Dominant Polycystic Kidney Disease Symptoms | Autosomal Dominant Polycystic Kidney Disease

  https://resources.healthgrades.com/right-care/kidney-disease/6-signs-of-autosomal-dominant-polycystic-kidney-disease

  You may notice your urine looks reddish or pinkish due to the presence of blood. This may occur as the result of cysts bursting or from small blood vessels around the cysts. It can last for a short period of time or for several days. […] The presence of cysts can affect the flow of your urine, causing infections. Pain with urination, increased frequency of urination, or ability to pass only small amounts of urine may result. If the infection travels up into your kidneys, you may experience kidney pain, fever, and chills. […] Up to 25% of people with ADPKD will develop kidney stones. They can be painful and make it difficult to urinate. Small stones may be passed with urine, but large stones require treatment to break them up or remove them. […] Pain is commonly experienced with ADPKD. It may develop due to growing cysts or as the result of urinary tract infections or kidney stones. Some people also report a feeling of heaviness or fullness in their abdomen.

• #37 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Complications-of-Polycystic-Kidney-Disease-(PKD).aspx

  The frequency of urinary tract infections is increased because of several factors, such as stagnation of urine due to obstruction of urinary flow by the cysts and infection of the renal cysts themselves. […] Renal calculi occur in 2 of every 10 people with ADPKD. The increased frequency of urate and oxalate stones may be due to reduced ammonia secretion in urine, increased protein intake, low urinary pH or low levels of urinary citrate. These can cause symptoms such as severe colicky pain in the lower back, loin or groin region, nausea, vomiting or diarrhea, hematuria, fever with chills and rigor, and inability to lie still in one position. […] Renal failure occurs when there is no longer sufficient intact renal tissue to support normal function. People with ADPKD go into renal failure around the age of 70 years, on average. […] An individual may notice the following symptoms: edema of the dependent parts of the body, such as around the ankles or feet, or around the eyes on waking from sleep, lowered urine output, nausea, feeling of malaise, pruritus, fatigue, pallor, dry skin, and respiratory difficulty.

• #38 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Signs-and-Symptoms-of-Polycystic-Kidney-Disease.aspx

  The symptoms of ADPKD are delayed to some time after 30 years in most patients because until this time, the cysts are not large enough to interfere with normal kidney function. In addition, the kidney is not noticeably enlarged. […] There may be pain in the abdomen, loins or lower back, the pain may be the first signs of ADPKD in many people. It does not last long in most cases but may persist for a few days in some individuals, though it may be severe. In most cases the cysts have become at least half an inch in size by then. […] Hematuria is often the presenting symptom of AKPKD and may cause alarm but is rarely serious and usually resolves within a week without specific treatment. […] In most individuals with AKPKD, symptoms of hypertension occur only when the blood pressure is severely elevated. They may include: headaches, diplopia or blurring of vision, nosebleeds, dyspnea.

• #39

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

  Having ADPKD puts you at an increased risk of developing kidney stones. […] Urinary tract infections (UTIs) are broadly classified into 1 of 2 groups: lower UTIs and upper UTIs. […] Most people with ADPKD will eventually lose a significant amount of kidney function. […] Loss of kidney function caused by kidney damage is known as chronic kidney disease (CKD). […] Symptoms of kidney failure include: poor appetite and weight loss, swollen ankles, feet or hands (oedema), shortness of breath, an increased need to pee, particularly at night, itchy skin, feeling sick, in men, erectile dysfunction, in women, absent periods (amenorrhoea), difficulty concentrating.

• #40 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Signs-and-Symptoms-of-Polycystic-Kidney-Disease.aspx

  Symptoms due to the presence of renal stones may include intense colicky pain usually in the back or loins, though sometimes it may be felt in the groin, rolling from side to side to find a comfortable position, nausea, frequency of urination, hematuria. […] Symptoms of a urinary infection in the lower urinary tract may include: discoloration or unpleasant odor of urine, frequency of urination, urgency, dysuria. […] Symptoms of upper urinary infection may include: high fever with chills and rigor, severe nausea, vomiting, diarrhea. […] Finally the signs of renal insufficiency or end-stage renal disease may set in: swelling of various parts of the body, especially around the ankles and the eyes, decreased urine output, nausea, shortness of breath, pruritus.

• #41 Polycystic Kidney Disease | Kidney Resource Center | Washington University in St. Louis

  https://kidney.wustl.edu/kidney-diseases/polycystic-kidney-disease/

  People with autosomal dominant PKD tend to have frequent urinary tract infections, which can be treated with antibiotics. […] Keeping blood pressure under control can slow the effects of autosomal dominant PKD. […] After many years, PKD can cause the kidneys to fail. Because kidneys are essential for life, people with ESRD must seek one of two options for replacing kidney functions: dialysis or transplantation.

• #42 Polycystic kidney disease: symptoms, treatments, causes and diagnosis

  https://www.kidneyresearchuk.org/conditions-symptoms/polycystic-kidney-disease/

  When the cysts have multiplied and enlarged they can caused a range of symptoms including: […] a swollen stomach […] pain in the abdomen, side or back […] blood in urine caused by blood vessel breakage in the cysts or possible kidney damage […] high blood pressure […] fever caused by a cyst infection […] potentially serious urinary tract infections (UTIs) caused by a possible cyst infection […] kidney stones […] cystic liver disease is a frequent finding alongside ADPKD, and may increase problems with abdominal swelling and pain. […] very rarely, ADPKD can cause abnormal blood vessels within the brain, which may cause bleeding into the brain (brain haemorrhage) […] ADPKD is now commonly treated by a drug called Tolvaptan, which has been available across the UK since early 2016. Tolvaptan slows the progression of cyst development and helps protect kidney function. In most cases this is likely to significantly delay the need for dialysis or a kidney transplant for ADPKD patients.

• #43 Autosomal dominant polycystic kidney disease (ADPKD) | Kidney Care UK

  https://kidneycareuk.org/kidney-disease-information/kidney-conditions/autosomal-dominant-polycystic-kidney-disease-adpkd/

  Most people with ADPKD live completely normal lives with very mild or no symptoms for the majority of the time. […] Cysts usually start to form in late childhood or early adulthood, although in rare cases they may not develop until a person is in their 60s or 70s. Most people with ADPKD have lots of cysts in their kidneys and liver by the time they reach old age. As the cysts grow, they cause the organs to enlarge. The larger they get, the more space they take up in the abdomen, causing it to become swollen. […] Other common ADPKD symptoms include: high blood pressure, urinary tract infections, pain in the sides and/or back, kidney stones. […] There may also be blood in the urine (haematuria). This happens when a tiny blood vessel in the wall of a cyst breaks, causing the cyst to bleed. This bleeding is usually not serious, but it is recommended that you see your doctor if you notice blood in your urine so the cause can be determined.

• #44 Autosomal Dominant Polycystic Kidney Disease Symptoms | Autosomal Dominant Polycystic Kidney Disease

  https://resources.healthgrades.com/right-care/kidney-disease/6-signs-of-autosomal-dominant-polycystic-kidney-disease

  In addition to your kidneys, cysts may grow in other organs, such as your liver, pancreas, and spleen. This causes your kidneys and other organs to increase in size and can make your whole abdomen swell. […] Let your doctor know if you experience any symptoms of ADPKD, especially if you have a family history. ADPKD is a chronic disease that tends to get worse with time and can lead to kidney failure. There’s no cure, but treatment can help you feel better and slow down the progression of the disease. […] About 50% of people with ADPKD will eventually go into kidney failure and require dialysis or a kidney transplant. But according to the PKD Foundation, there’s reason to remain hopeful. More new drugs are being studied for ADPKD than ever before, and we are continuing to learn more about the genes involved in the disease process. The future outcomes for ADPKD may be changing.

• #45 What Are the Stages of ADPKD?

  https://www.webmd.com/a-to-z-guides/adpkd-stages

  This means your kidneys are close to failing or have failed. It doesn’t happen often in people under 40 with ADPKD. But by the time you’re between 70 and 75, the likelihood of kidney failure from ADPKD is 50%-75%. […] Stage 5 symptoms include: Weakness or drowsiness, Headaches, Confusion, Nausea, vomiting, or decreased appetite, Itching, Muscle cramps, Shortness of breath, Gray or yellow skin color, Metallic taste. […] The doctor will monitor your ADPKD, but it’s always smart to be an active partner in your health. Keep them informed of all your symptoms and concerns, especially in the later stages of ADPKD.

• #46 About Autosomal Dominant Polycystic Kidney Disease

  https://www.genome.gov/Genetic-Disorders/Autosomal-Polycystic-Kidney-Disease

  About half of individuals who have ADPKD develop end-stage kidney disease by the age of 60. […] When PKD causes kidneys to fail – which usually happens after many years – the patient requires dialysis or kidney transplantation. About one-half of people with the major type of PKD progress to kidney failure, also called end-stage kidney disease. […] When kidney function starts to decline, treatment is aimed at slowing down the progression to kidney failure. This involves controlling high blood pressure, restricting protein in the diet, controlling build up of acid (acidosis) and preventing elevated levels of phosphate (hyperphosphatemia). […] When individuals with ADPKD develop renal failure, they need to have dialysis or a renal transplant. Studies have shown that individuals with ADPKD do better on dialysis than individuals with kidney failure from other causes.

• #47 Progression

  https://pkdcharity.org.uk/adpkd/treatment/progression

  As your kidney cysts grow, you’re more likely to get other problems linked to ADPKD. These include: high blood pressure, pain, polycystic liver disease, urinary tract infections, a brain aneurysm (ballooning of a blood vessel), blood in your urine, kidney stones, diverticula (pockets in your bowel). […] You should have a kidney check-up at least once a year. How often you have check-ups will depend on how much ADPKD is affecting your kidneys and your preference. […] If your kidney function drops further and you start getting symptoms, you may need to: make changes to your diet, follow your doctors advice about the amount of liquid you drink, take medicines to help keep you healthy. […] If you have mild to moderate CKD and your ADPKD is progressing rapidly, you may be eligible for a treatment called tolvaptan (Jinarc). In trials, tolvaptan slowed the speed at which some peoples kidneys grew and also slowed their kidney damage.

• #48 Autosomal dominant polycystic kidney disease – Wikipedia

  https://en.wikipedia.org/wiki/Autosomal_dominant_polycystic_kidney_disease

  ADPKD can also result in a wide array of symptoms beyond the kidneys resulting in the following symptoms: Neurological: Arachnoid cysts, intracranial hemorrhage. Cardiovascular: Pericardial effusion, mitral valve prolapse, bicuspid aortic valve. Endocrine: Pancreatic cysts. Gastrointestinal: Polycystic liver disease, diverticulosis. Pulmonary: Bronchiectasis. Reproductive: Male infertility, seminal vesicle cysts, ovarian cysts. […] Signs and symptoms of ADPKD often develop between 30 and 40 years of age. […] In ADPKD patients, gradual cyst development and expansion result in kidney enlargement, and during the course of the disease, glomerular filtration rate remains normal for decades before kidney function starts to progressively deteriorate, making early prediction of renal outcome difficult.

• #49 Autosomal dominant polycystic kidney disease – Wikipedia

  https://en.wikipedia.org/wiki/Autosomal_dominant_polycystic_kidney_disease

  The presence of ADPKD is associated with the a number of extra-renal symptoms including the development of cysts in organs outside of the kidney. Polycystic liver disease is a is often found in adults with ADPKD and can be present in greater than 90% of individuals with ADPKD over 35 years old. […] Individuals with the ADPKD are also at increased risk for the development of risk of intracranial aneurysms. The risk of intracranial aneurysms is estimated to be four times higher in people with ADPKD when compared to the general population and as a result screening with magnetic resonance angiography for high-risk populations. […] Additionally, symptoms such as a abdominal fullness, abdominal excessive urination, and reoccurring urinary tract infections (occurring more frequently in women than in men), kidney stones, bladder infection are also associated with ADPKD.

• #50

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

  Kidney function may gradually deteriorate until so much is lost that kidney failure occurs. […] The outlook for ADPKD is highly variable. Some people experience kidney failure soon after the condition is diagnosed, whereas others may live the rest of their life with their kidneys working relatively well. […] On average, around half of people with ADPKD require treatment for kidney failure by the time they’re 60. […] As well as kidney failure, ADPKD can also cause a number of other potentially serious problems, such as heart attacks and strokes caused by high blood pressure, or bleeding on the brain (subarachnoid haemorrhage) caused by a bulge in the wall of a blood vessel in the brain (brain aneurysm).

• #51

  https://journals.lww.com/kidney360/fulltext/2024/08000/mental_health_and_autosomal_dominant_polycystic.21.aspx

  Many patients with ADPKD report experiencing depression, helplessness, and anxiety about their disease progression to ESKD. […] Depression was reported in 60.5% of patients with ADPKD, yet none of the patients were prescribed antidepressants or receiving therapy for depression. […] A significant and direct relationship between extreme levels of anxiety/depression and degree of CKD severity was found (P 0.001). […] Pain, a prevalent symptom in patients with ADPKD, significantly diminishes QoL. […] The burden of symptoms in ADPKD, including pain, hypertension, and complications arising from kidney enlargement, plays a substantial role in escalating psychological distress. […] Genetic guilt, stemming from the hereditary nature of ADPKD, contributes to anxiety and resentment, particularly among younger individuals.

• #52

  https://journals.lww.com/kidney360/fulltext/2024/08000/mental_health_and_autosomal_dominant_polycystic.21.aspx

  Disease acceptance and emotional suppression vary among individuals with ADPKD, ranging from a high level of disease acceptance in asymptomatic patients to pronounced emotional suppression in later stages. […] The QoL in patients with ADPKD is intricately linked to both physical and mental health and varies significantly across different stages of CKD. […] The diagnosis of ADPKD introduces significant uncertainty for the patients and their caregivers. […] The assessment and management of anxiety and depression in patients with ADPKD require a multifaceted approach.

• #53 ADPKD basics

  https://pkdcharity.org.uk/adpkd/what-is-adpkd/adpkd-basics

  There is no cure for ADPKD, but treatments can help to reduce your symptoms and lower your risk of complications. For example, different medications can lower your blood pressure, treat infections or help to manage pain. […] A drug called tolvaptan is suitable for some adults with ADPKD this can slow the progression of ADPKD. Tolvaptan reduces the rate at which the kidneys become enlarged by cysts and can help to slow the decline of kidney function. […] Most adults with early ADPKD experience symptoms occasionally, such as back pain and feeling tired. These are often associated with a particular problem (such as an infection) and clear up with treatment. When symptoms occur, they can make it harder to work and keep active.

• #54 Autosomal dominant polycystic kidney disease: updated perspectives | TCRM

  https://www.dovepress.com/autosomal-dominant-polycystic-kidney-disease-updated-perspectives-peer-reviewed-fulltext-article-TCRM

  Several factors are associated with rapid ADPKD progression. […] The US Food and Drug Administration (FDA) approved tolvaptan as the first drug treatment to slow kidney function decline in adults at risk of rapidly progressing ADPKD. […] Tolvaptan led to a slower rate of decline in kidney function than placebo over a period of up to 12 months in patients with chronic kidney disease of stage 2 to stage 4. […] The predictive value of htTKV was confirmed by the ADPKD Outcomes Consortium and led to qualification of htTKV along with age and eGFR as prognostic markers for rapid progression of the disease.

• #55 Autosomal Dominant Polycystic Kidney Disease: Early intervention and lifestyle crucial – Mayo Clinic News Network

  https://newsnetwork.mayoclinic.org/discussion/autosomal-dominant-polycystic-kidney-disease-early-intervention-and-lifestyle-crucial/

  Hypertension affects 70-80% of people with ADPKD, and 9-14% of them develop brain aneurysms (a weakened and bulging area in the wall of a blood vessel), which have a low rupture rate. […] The review provides practical guidance on managing blood pressure, sodium intake, hydration and lifestyle changes to delay complications such as kidney failure, liver cysts and hypertension to slow disease progression. […] A key tool in managing the disease is the Mayo Imaging Classification (MIC), which predicts the severity of the disease based on a person’s kidney size and growth rate. Higher MIC classifications indicate faster growth and an earlier need for kidney replacement (dialysis or kidney transplantation). Roughly half of ADPKD patients need kidney replacement therapy by age 62. […] The review also explores the use of novel therapies, such as the drug tolvaptan, recently approved by the Food and Drug Administration to slow kidney function decline for high-risk adults at risk of rapidly progressing ADPKD.

• #56 Polycystic Kidney Disease | Nationwide Children’s Hospital

  https://www.nationwidechildrens.org/conditions/polycystic-kidney-disease

  About 50 percent of people with autosomal dominant form of PKD progress to kidney failure by age 60, and about 60 percent will have kidney failure by age 70. […] Symptoms usually develop between age 30 and 40 (but they can begin as early as childhood), and may include the following: Abdominal pain, Detectable abdominal mass, Pale color to skin, Bruise easily, High blood pressure, Kidney stones. […] Autosomal dominant PKD may occur with other conditions including: Tuberous sclerosis (a genetic syndrome involving seizures, intellectual disability, benign tumors, and skin lesions), Liver disease, Severe eye problems. […] Diagnosis of autosomal dominant PKD may include the use of imaging techniques to detect cysts on the kidney and other organs and a review of the family history of autosomal dominant PKD. […] Treatment may include: Treatment for high blood pressure, Treatment for urinary tract infections, Dialysis, Kidney transplantation.

• #57 Polycystic Kidney Disease | Kidney Resource Center | Washington University in St. Louis

  https://kidney.wustl.edu/kidney-diseases/polycystic-kidney-disease/

  Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys. When cysts form in the kidneys, they are filled with fluid. PKD cysts can profoundly enlarge the kidneys while replacing much of the normal structure, resulting in reduced kidney function and leading to kidney failure. […] About one-half of people with the most common type of PKD progress to kidney failure, also called end-stage renal disease (ESRD). […] The symptoms and signs of PKD include: Pain in the back and lower sides, Headaches, Urinary tract infections, Blood in the urine, Cysts in the kidneys and other organs. […] Autosomal dominant symptoms usually develop between the ages of 30 and 40, but they can begin earlier, even in childhood. […] For most but not all cases of severe pain due to cyst expansion, surgery to shrink cysts can relieve pain in the back and sides. However, surgery provides only temporary relief and does not slow the diseases progression toward kidney failure.

• #58 How Does Polycystic Kidney Disease Affect the Kidneys? Symptoms

  https://www.emedicinehealth.com/polycystic_kidney_disease_affect_the_kidneys/article_em.htm

  If not well-managed, polycystic kidney disease may progress more rapidly, leading to end-stage renal disease (ESRD), which requires renal replacement therapy such as: Hemodialysis, Peritoneal dialysis, or Kidney transplantation. Life expectancy depends on the severity and the progression of the disease to end-stage renal disease (ESRD). Patients who develop renal failure early in their lives will have more complications and a shorter life span. Most patients do not begin to develop problems until their 30s, and if the condition is well-managed can live a near-normal lifespan. Patients who receive kidney transplants can also increase their life expectancy. […] Since polycystic kidney disease is a genetic disorder, it cannot be prevented. Once a patient is diagnosed with the disease, symptoms and complications may be slowed if the illness is well managed.

• #59

  https://111.wales.nhs.uk/encyclopaedia/k/article/kidneydisease,autosomaldominantpolycystic/

  The outlook for ADPKD is highly variable. Some people experience kidney failure soon after the condition is diagnosed, whereas others may live the rest of their life with their kidneys working relatively well. […] On average, around half of people with ADPKD require treatment for kidney failure by the time they’re 60.

• #60 Determinants of Disease Progression in Autosomal Dominant Polycystic Kidney Disease

  https://www.mdpi.com/2075-4426/14/9/936

  Common symptoms of ADPKD include flank pain, hematuria, renal insufficiency, palpable kidneys, and hypertension. […] The most common presenting complaint among patients with ADPKD was flank pain, which was present in more than 60% of patients, followed by urinary complaints such as gross hematuria (14.0%), urinary frequency (13.2%), urgency (8.8%), and dysuria (8.8%). Hypertension was the most common physical finding. More than 80% of the patients with ADPKD had hypertension. […] The progression of renal disease in ADPKD patients significantly correlates with age at diagnosis, gender, presence of comorbidities, and higher baseline systolic blood pressure. […] Factors associated with fast progression among ADPKD patients were analyzed. The median annual decline in eGFR was 3.6 (1.8–7.0) mg/dL in the 67 patients, who had follow-up for at least 6 years.

• #61 Determinants of Disease Progression in Autosomal Dominant Polycystic Kidney Disease

  https://www.mdpi.com/2075-4426/14/9/936

  In the multivariate logistic regression, younger age at diagnosis was significantly associated with fast progression of renal disease in ADPKD (adjusted Odds Ratio (aOR) of 0.92, 95% CI, 0.87–0.98, p-value: 0.007). […] In the multivariate logistic regression, the presence of comorbidity was significant with fast progression of renal disease in ADPKD (aOR: 3.95, p-value: 0.037). […] Higher baseline SBP was associated with increased odds of progression of renal disease in ADPKD patients in this study, (aOR: 1.05, 95% CI, 1.01–1.10, p-value: 0.026).

• #62 Genotype, Kidney Size Predict Rapid Progression of ADPKD – Renal and Urology News

  https://www.renalandurologynews.com/news/genotype-kidney-size-predict-adpkd-rapid-progression/

  The combination of ADPKD genotype and baseline kidney size can predict rapid kidney function decline in routine clinical practice. […] Combining genotype and kidney length can identify nearly 9 out of 10 patients with rapid progression of autosomal dominant polycystic kidney disease (ADPKD), investigators report. […] In a multivariate logistic regression model, the PKD1-truncating genotype and a height-adjusted mean kidney length (htMKL) of more than 9.5 cm/m emerged as independent predictors for rapid disease progression. Rapid eGFR decline was defined as more than 2.5 mL/min/year. […] The combination also had a positive predictive value of 100% and a negative predictive value of 63% for kidney failure by age 60 years. […] These study findings indicate that the combination of genotype and mean kidney length or kidney volume is able to capture the process of cyst initiation and expansion in an individual patient providing predictive value for subsequent kidney function decline.

• #63 ADPKD Progression: Risks, Slowing It Down, and More

  https://www.healthline.com/health/adpkd/adpkd-disease-progression-risks-and-slowing-it-down

  Some people diagnosed with ADPKD eventually lose all or some kidney function due to chronic kidney disease (CKD). This occurs when the kidneys can no longer filter waste from the blood. […] Kidney failure refers to having less than 15 percent of kidney function left, notes the Polycystic Kidney Disease Charity. Treatment for kidney failure is dialysis or a kidney transplant. […] ADPKD is a chronic condition that affects kidney function and can eventually cause kidney failure. While you cant always prevent disease progression, you can take steps to protect your kidneys and slow the disease.

• #64 Which therapies are the most effective for preventing the progression of autosomal dominant polycystic kidney disease? | Cochrane

  https://www.cochrane.org/CD010294/RENAL_which-therapies-are-most-effective-preventing-progression-autosomal-dominant-polycystic-kidney

  Although many interventions have been investigated in patients with ADPKD, at present, there is little evidence that they improve patient outcomes. Tolvaptan is the only therapeutic intervention that has demonstrated the ability to slow disease progression, as assessed by eGFR and TKV change. However, it has not demonstrated benefits for death or kidney failure. […] Improved understanding of the molecular and cellular mechanisms involved in kidney cyst growth and disease progression has resulted in new pharmaceutical agents targeting disease pathogenesis and preventing disease progression.

• #65 Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts | npj Genomic Medicine

  https://www.nature.com/articles/s41525-024-00452-6

  Autosomal Dominant Polycystic Kidney Disease (ADPKD) results in progressive cysts that lead to kidney failure, and is caused by heterozygous germline variants in PKD1 or PKD2. The disease is characterised by progressive development of kidney cysts that eventually destroy the kidney tissue, leading to kidney failure. ADPKD patients with end-stage disease typically have markedly enlarged kidneys, often double or more in size, that are overwhelmed with cysts throughout the kidney, leaving little to no normal kidney tissue remaining. […] Understanding the basis of cyst formation and progression is key to understanding disease initiation and progression, and developing effective treatments for ADPKD. […] Our study, which utilised methodologies well-established in the oncology somatic variant-detection field, identified somatic, pathogenic PKD1 variants in 58% of consecutive cysts studied. […] Our data shows that somatic mutation has a role in a significant proportion of ADPKD cystic tissue and therapies that can reduce this mutation burden may allow clinically meaningful reduction in disease progression.

• #66 Autosomal Dominant Polycystic Kidney Disease: Early intervention and lifestyle crucial – Mayo Clinic News Network

  https://newsnetwork.mayoclinic.org/discussion/autosomal-dominant-polycystic-kidney-disease-early-intervention-and-lifestyle-crucial/

  The review recommends that a kidney specialist who manages patients with ADPKD should share decision-making with the patient regarding genetic testing, treatments, monitoring and aneurysm screening. This collaborative approach recognizes the importance of the physician’s medical expertise and the patient’s values, preferences, and goals. It also says patients with ADPKD should be aware of the symptoms of ruptured aneurysms (sudden, severe headache) and the need for immediate medical attention should they experience those symptoms.

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