Autosomal dominant polycystic kidney disease (ADPKD): Extrarenal manifestations

Authors:: William M Bennett, MD; Vicente E Torres, MD
Section Editor:: Ronald D Perrone, MD
Deputy Editor:: Eric N Taylor, MD, MSc, FASN

Literature review current through: Jan 2024.

This topic last updated: Dec 16, 2022.

INTRODUCTION — Autosomal dominant polycystic kidney disease (ADPKD) is characterized by cysts in the kidneys and, in many cases, is associated with cysts in the liver and pancreas that can be helpful in confirming the diagnosis. In addition, patients may have a variety of other abnormalities, many of which are consistent with a generalized defect in epithelial cell differentiation and/or extracellular matrix function as a primary expression of the genetic abnormality in this disorder [1-5]. (See "Autosomal dominant polycystic kidney disease (ADPKD): Genetics of the disease and mechanisms of cyst growth".)

This topic reviews the major extrarenal manifestations of ADPKD. The diagnosis, screening, and treatment of ADPKD are discussed elsewhere. (See "Autosomal dominant polycystic kidney disease (ADPKD) in adults: Epidemiology, clinical presentation, and diagnosis" and "Autosomal dominant polycystic kidney disease (ADPKD): Treatment".)

MAJOR EXTRARENAL COMPLICATIONS — The major extrarenal complications of ADPKD are:

●Cerebral aneurysms

●Hepatic and pancreatic cysts

●Cardiac valve disease

●Colonic diverticula

●Abdominal wall and inguinal hernia

●Seminal vesicle cysts

Dissections and aneurysms of the ascending thoracic aorta [6,7], cervicocephalic artery dissections, dolichoectasias [8,9], and central retinal vascular occlusions [10] have also been associated with ADPKD.

The mechanism of cyst formation is discussed elsewhere (see "Autosomal dominant polycystic kidney disease (ADPKD): Genetics of the disease and mechanisms of cyst growth", section on 'Mechanism of cyst formation and growth'). Malformations of selected vasculature, including intracranial aneurysms and aortic root dilatation (normal diameter ≤35 mm), may be due to altered expression and/or function of the PKD gene in arterial smooth muscle cells [11].

CEREBRAL ANEURYSM — A ruptured cerebral aneurysm, resulting in a subarachnoid or intracerebral hemorrhage, is the most serious complication of PKD [7,12]. The prevalence of intracranial aneurysms is four times higher in patients with ADPKD compared with the general population (8 to 12 percent versus 2 to 3 percent) [7,12,13].

Risk factors — The development and rupture of an intracranial cerebral aneurysm is associated with certain nonmodifiable and modifiable risk factors [14,15]. These include:

●Nonmodifiable risk factors:

•Personal history of cerebral aneurysm or subarachnoid hemorrhage

•Family history of cerebral aneurysm or subarachnoid hemorrhage

•Female sex

•Older age

•Finnish or Japanese descent

●Modifiable risk factors:

•Smoking

•Hypertension

•Excess alcohol intake

Of the listed risk factors, having a family history of intracranial aneurysm, particularly if complicated by subarachnoid hemorrhage, is associated with the greatest risk [8,13,16-19]. The risk of subarachnoid hemorrhage is three to seven times higher among first-degree relatives of patients who have had subarachnoid hemorrhage compared with the general population [16,17,20-23].

Clinical manifestations — The clinical presentation and diagnosis of aneurysmal subarachnoid hemorrhage is presented separately. (See "Aneurysmal subarachnoid hemorrhage: Clinical manifestations and diagnosis".)

Aneurysm rupture in ADPKD most often occurs with larger aneurysms, often before the age of 50 years and/or in patients with poorly controlled hypertension [23]. However, both hypertensive stroke and intracerebral hemorrhage are more common than aneurysm rupture in ADPKD.

In a review of 77 patients with intracranial aneurysm (71 with previous aneurysm rupture), the following additional characteristics were noted [18]:

●One-half of patients had normal kidney function.

●The middle cerebral artery was usually involved, but 31 percent had multiple aneurysms.

●Death or severe disability occurred in 48 percent in the 71 patients with a ruptured aneurysm.

The most common complaint with a subarachnoid hemorrhage is the acute onset of severe headache, frequently associated with nausea and vomiting. As an example, in one prospective study of 148 patients (not with ADPKD), subarachnoid hemorrhage was identified as a cause in 25 percent of patients presenting with sudden and severe headache [24]. Immediate evaluation is essential in this setting to preserve neurologic function. The evaluation of patients with suspected subarachnoid hemorrhage is discussed elsewhere. (See "Aneurysmal subarachnoid hemorrhage: Clinical manifestations and diagnosis", section on 'Evaluation and diagnosis' and "Clinical diagnosis of stroke subtypes".)

In view of the poor prognosis associated with a major subarachnoid hemorrhage, early diagnosis of symptoms related to growth or change of an intracranial aneurysm is important. As an example, some patients with subarachnoid hemorrhage have warning symptoms of severe headache from a small bleed (also called a warning leak or sentinel bleed), usually occurring within the previous 30 days. However, most first hemorrhages appear to be serious [24]. (See "Aneurysmal subarachnoid hemorrhage: Clinical manifestations and diagnosis", section on 'Clinical presentation'.)

Natural history — An important issue is the natural history of intracerebral aneurysms in patients with ADPKD [25,26].

Information on the natural history of unruptured intracranial aneurysms is derived mainly from studies in the general population without ADPKD. Aneurysm size, aneurysm location, and previous subarachnoid hemorrhage are among the strongest predictors of rupture. (See "Unruptured intracranial aneurysms", section on 'Risk factors for aneurysm rupture'.)

Data on the risk of aneurysm rupture in the ADPKD population are limited. In one study, magnetic resonance angiography (MRA) performed in patients with no prior history of intracranial aneurysm (ie, a presymptomatic MRA) revealed aneurysms in 75 of 812 (approximately 9 percent) [13]. Most aneurysms detected were small, with a median diameter of 4 mm (range, 2 to 12 mm) and 88 percent of them occurred in the anterior circulation. Seven patients underwent surgical clipping or coil embolization. No aneurysms ruptured among the remaining 68 patients. Among those who did not have an aneurysms detected on MRA, two patients developed a ruptured aneurysm during follow up. The rate of a ruptured aneurysm for the entire cohort of 812 patients was 0.04 per 100 patient-years. This rupture rate is approximately five times higher than the incidence of subarachnoid hemorrhage in the general population of [27].

In another study of 185 patients with ADPKD who underwent a presymptomatic MRA, an intracranial aneurysm was detected in 19 (10 percent) patients [28]. At a median follow-up of approximately six years, six patients underwent prophylactic treatment (surgical clipping or coil embolization) and one of the 13 remaining patients had a ruptured aneurysm. Of the 166 patients with no aneurysm detected on the MRA, one patient had a ruptured aneurysm. This study also reported outcomes among 310 patients with ADPKD who did not undergo a presymptomatic MRA. Of these 310 patients, three had a ruptured aneurysm. The overall rate of a ruptured aneurysm was 0.2 percent per 100 person-years, which is substantially higher than that reported in other studies.

The information on growth of preexisting and on de novo formation of intracranial aneurysms in ADPKD is also limited. Over a mean follow-up of 15 years, among 75 patients with ADPKD who had unruptured intracranial aneurysms, a follow-up MRA showed aneurysm growth in eight (13 percent) patients [13]. The average increase in diameter was 2 mm (range, 1.0 to 3.0 mm). Among these 75 patients, the rate of de novo intracranial aneurysm formation was 1.07 per 100 patient-years. In a cohort of another 135 patients with ADPKD but without prior intracranial aneurysms, the rate of de novo intracranial aneurysms was 0.32 per 100 patient-years. The risk factors for growth of an existing aneurysm or for development of a de novo aneurysm are unknown.

Screening

Indications for screening — The effectiveness of presymptomatic screening and preemptive intervention to prevent aneurysmal rupture depends on the prevalence of intracranial aneurysms, yield of the screening procedure, risk of rupture with medical therapy alone, and morbidity and mortality associated with clipping or embolization of the aneurysm, technical success of these interventions, and risk of de novo aneurysm development and rupture [29-33].

Based upon available data, it is unclear if either widespread or targeted screening for intracranial aneurysms is beneficial for patients with ADPKD. We discuss the risks and benefits of screening, finding, and treating an aneurysm and the risk of rupture of an undetected aneurysm with all of our ADPKD patients. We perform a presymptomatic MRA or computed tomographic angiography (CTA) among the following patients with ADPKD:

●Patients with a family history of an intracranial aneurysm or subarachnoid hemorrhage, particularly in a first degree relative.

●Patients about to undergo major elective surgery with potential hemodynamic instability.

●Patients who work in high-risk occupations (eg, bus drivers) in whom loss of consciousness from a ruptured aneurysm would place the lives of others at risk.

●Patients who require chronic anticoagulation (eg, those with atrial fibrillation).

It is not known whether anticoagulation increases the risk of intracranial bleeding. However, if a rupture occurs, anticoagulation increases the severity of bleeding [2,16,18]. (See "Anticoagulant and antiplatelet therapy in patients with an unruptured intracranial aneurysm".)

Some, but not all, centers test all ADPKD patients who are being evaluated for potential kidney transplantation. Other centers only test ADPKD patients awaiting kidney transplantation if they have a history of headaches or a family history of aneurysm. (See "Kidney transplantation in adults: Evaluation of the potential kidney transplant recipient", section on 'Cerebrovascular disease'.)

We do not test patients with ADPKD who are <18 years of age because aneurysmal rupture in childhood is rare.

We perform repeat imaging (MRA or CTA) every five years among patients who do not have an aneurysm detected on initial imaging and who have a family history of intracranial aneurysms [34]. The role of repeat imaging among those with negative imaging but without a family history is less clear.

The effectiveness of presymptomatic screening for an aneurysm and that for a preemptive intervention to prevent rupture depends upon [29-33]:

●Prevalence of intracranial aneurysms

●Risk of de novo aneurysm development and rupture

●Yield of the screening procedure

●Risk of rupture with medical therapy alone (eg, antihypertensive therapy)

●Success rate of therapeutic interventions (eg, clipping or coil embolization)

●Morbidity and mortality associated with the therapeutic interventions

Monitoring of patients who have aneurysms that do not require immediate surgical intervention is discussed below. (See 'Monitoring patients with small aneurysms' below.)

Methods of screening — The preferred methods of screening for aneurysm include time-of-flight MRA without gadolinium and high-resolution computed tomography angiography (CTA) [12,17,22,35,36]. We generally prefer to use MRA for screening and use CTA only if there are contraindications to MRA (such as prior surgical clipping of aneurysm with a magnetic resonance noncompatible clip).

Both imaging modalities have been shown to have a high sensitivity for detection of aneurysms 3 to 5 mm or larger (see "Screening for intracranial aneurysm", section on 'Choice of screening test'). Cerebral angiography is invasive and may be associated with an increased risk of cerebral bleeding or stroke [22]. Time-of-flight MRA does not require gadolinium contrast and can be performed safely at any level of glomerular filtration rate (GFR).

Indications for intervention — The indications for surgical intervention for unruptured cerebral aneurysm are the same for patients with ADPKD as for the non-ADPKD population and are discussed elsewhere. (See "Unruptured intracranial aneurysms", section on 'Indications for intervention'.)

Patients with known, unruptured aneurysms who are managed conservatively should be instructed to avoid uncontrolled hypertension, smoking, heavy alcohol consumption, stimulant medications, illicit drugs, and excessive straining and Valsalva maneuvers.

Monitoring patients with small aneurysms — Among patients who have aneurysms that do not require immediate surgical intervention, we suggest follow-up monitoring with MRA or CTA annually for two to three years and every two to three years thereafter if the aneurysm is clinically and radiographically stable. However, it is not unreasonable to reimage newly detected, small aneurysms at six months, since there is evidence that newly formed, small aneurysms may be at higher risk of rupture than older, more stable aneurysms (see "Unruptured intracranial aneurysms", section on 'Aneurysm growth and rupture'). Longer reimaging intervals are certainly appropriate if the six-month study shows no significant change.

Safety of anticoagulation — Patients with ADPKD may require chronic anticoagulation with warfarin or direct oral anticoagulants for disorders such as deep vein thrombosis or atrial fibrillation. As noted above, such patients should be screened for the presence of an aneurysm. (See 'Screening' above.)

Patients with an aneurysm should be told about the relative risks and benefits of anticoagulation and be evaluated for possible nonpharmacologic therapies (eg, inferior vena cava filter for deep vein thrombosis and radiofrequency ablation for atrial fibrillation). Although data are limited, studies in patients with unruptured intracranial aneurysms (most often not related to ADPKD) have concluded that it is not known if warfarin increases the risk of intracranial bleeding, but, if rupture occurs, anticoagulation increases the severity of bleeding. (See "Anticoagulant and antiplatelet therapy in patients with an unruptured intracranial aneurysm".)

Those without an aneurysm probably have a risk of cerebral hemorrhage from anticoagulation that is similar to hypertensive patients who do not have ADPKD. (See "Risks and prevention of bleeding with oral anticoagulants", section on 'Intracranial'.)

HEPATIC CYSTS — As with kidney cysts, the prevalence of hepatic cysts increases with age. Earlier studies that utilized ultrasound for screening reported a prevalence of approximately 10 to 20 percent below the age of 30 years and 50 to 70 percent over the age of 60 years [37-39]. However, in a study of 230 patients with ADPKD between the ages of 15 and 46 years, magnetic resonance imaging (MRI), which is much more sensitive than ultrasound for the detection of small cysts, identified hepatic cysts in 83 percent [40]. The extent of the cystic disease in the kidney and the liver is only weakly correlated, suggesting that modifiers beyond the ADPKD genotype significantly influence the liver phenotype [41,42].

Patients with ADPLD may have no or only few kidney cysts [43] (see "Diagnosis and management of cystic lesions of the liver", section on 'Polycystic liver disease'). Several additional genes associated with PLD with or without kidney cysts have been identified [44,45].

Although the overall prevalence of a polycystic liver in patients with ADPKD is similar in males and females, females may develop cysts at an earlier age. In addition, compared with males, females are far more likely to have large hepatic cysts, particularly those who have had multiple pregnancies [37,38,40]. Such acceleration of hepatic cyst growth may be due to an underlying sensitivity of the cysts to female steroid hormones. Consistent with this hypothesis is the observation that postmenopausal estrogen may be associated with selective enlargement of hepatic cysts, as well as the hepatic parenchyma [46]. Further supporting the role of female hormones in the progression of PLD is that 58 percent of females >48 years of age with severe PLD (height-adjusted liver volume >1800 mL/m) had a significant regression in liver volume on follow-up imaging, whereas the liver continued to enlarge in males [42].

Liver cysts remain asymptomatic in most patients with ADPKD and rarely lead to hepatic function impairment. However, patients can develop pain (which may require decompression of the cyst if it is persistent and severe) and/or cyst infection (which requires therapy with an antimicrobial, such as a fluoroquinolone, that can penetrate the cyst and, in some cases, percutaneous drainage) [16,39,47]. Acute pain usually results from cyst infection or hemorrhage and rarely from rupture or torsion [39]. Radionuclide imaging and, more recently, ¹⁸F-fluorodeoxyglucose positron emission tomography scanning have been used for diagnosis of hepatic cyst infection [48,49].

Symptoms (eg, pain, mass effects) caused by cysts can be treated with percutaneous cyst drainage, sclerotherapy using foam (sotradecol, polidocanol) or other sclerosing agents [50,51], or by laparoscopic or open surgical wide fenestration. Partial hepatic resection has been attempted with some success in patients with massive symptomatic cysts [39,52,53]; however, this procedure should be limited to refractory patients and performed only in centers with experience in hepatic surgery. Liver transplantation and combined liver/kidney transplantation have been performed in patients with severe, symptomatic disease [54]. Rarely, invasive management is undertaken for the management of refractory pain. In patients who are not surgical candidates, percutaneous transcatheter hepatic artery embolization may be a treatment option [55].

The immunosuppressive agent, sirolimus, appears to decrease polycystic liver volume, possibly via an antiproliferative effect [56]. In a retrospective study, liver volume was assessed in seven kidney transplant patients administered sirolimus-mycophenolate-prednisone and nine recipients given tacrolimus-mycophenolate-prednisone [56]. At 19 months, the sirolimus-based regimen resulted in a decrease in mean liver volume of 12 percent, while the mean liver volume increased by 14 percent in those individuals using a tacrolimus-based regimen. Further data are required to understand the role, if any, of sirolimus in this setting. A randomized, controlled trial has shown that adding everolimus to octreotide in PLD does not increase the liver volume-reducing effect of octreotide [57].

Somatostatin may reduce kidney and liver cyst fluid accumulation among patients with PKD or isolated PLD [58-62]. Long-acting somatostatin analogs (lanreotide) and pansomatostatin analogs (pasireotide) can be effective in reducing, and in some cases, reversing the growth of polycystic livers [58-64]. However, they can be associated with severe side effects, especially pasireotide. Thus, we generally only use octreotide and lanreotide among patients with severe PLD when no better options are available. We generally avoid the use of pasireotide due to the high incidence of hyperglycemia and diabetes mellitus. (See "Autosomal dominant polycystic kidney disease (ADPKD): Treatment", section on 'Somatostatin and somatostatin analogs'.)

PANCREATIC CYSTS — Pancreatic cyst(s) occur in approximately 7 to 36 percent of patients with ADPKD [65]. They have also been demonstrated in a mouse model of ADPKD due to both PKD1 and PKD2 gene mutations, which are responsible for almost all cases of ADPKD [66,67]. Associations with intraductal papillary mucinous neoplasm has also been reported [68]. (See "Classification of pancreatic cysts" and "Autosomal dominant polycystic kidney disease (ADPKD): Genetics of the disease and mechanisms of cyst growth", section on 'Genetics'.)

CARDIAC DISEASE — We do not routinely perform surveillance echocardiography among patients with ADPKD, unless they have indications for such a study (eg, heart murmur or signs or symptoms of cardiac dysfunction). (See "Determining the etiology and severity of heart failure or cardiomyopathy", section on 'Echocardiography' and "Approach to diagnosis of asymptomatic left ventricular systolic dysfunction", section on 'Approach to patients with suspected ALVSD'.)

Valvular abnormalities of unclear clinical significance can be detected by echocardiography in 25 to 30 percent of patients with ADPKD [16,69-72]. The most common abnormalities include mild mitral valve prolapse and aortic regurgitation; less frequent lesions include mitral and/or tricuspid regurgitation [16,69-72]. In more recent studies, mitral valve prolapse has been observed less often than initially reported [73]. Generalized abnormalities in collagen and/or extracellular matrix may be responsible for the valve disease in ADPKD; aortic regurgitation, for example, may result from dilatation of the aortic root and annulus [16,69,70]. (See "Mitral valve prolapse: Clinical manifestations and diagnosis" and "Clinical manifestations and diagnosis of chronic aortic regurgitation in adults".)

Most patients with valvular disease are asymptomatic and many will not have an audible murmur [16,70]. Nevertheless, the lesions may progress over time and become severe enough to require valve replacement [69]. Following kidney transplantation, patients with ADPKD had a greater increase in valvular heart dysfunction compared with other kidney transplant recipients [74]. The use of antimicrobial prophylaxis among patients with valvular lesions is discussed elsewhere. (See "Prevention of endocarditis: Antibiotic prophylaxis and other measures".)

Preliminary evidence suggests that PKD may also be associated with an increased incidence of coronary aneurysms and coronary artery dissection [75,76]. In one study, for example, the prevalence of coronary aneurysms (defined as an increased diameter of ≥50 percent or pathologic ectasia) was evaluated in 30 patients with ADPKD and 30 matched controls without ADPKD [77]. Both groups underwent coronary angiography for conventional clinical indications. Aneurysms were present in four ADPKD and two control patients, while ectatic lesions were detected in five ADPKD but no control individuals. Coronary artery dissection has been described in isolated case reports.

Asymptomatic pericardial effusions appear to occur at increased frequency in patients with ADPKD. This was best shown in a retrospective analysis, in which the presence and severity of pericardial effusions was analyzed by computed tomography (CT) among 60 patients with ADPKD (mean serum creatinine concentration 1.8 mg/dL [160 micromol/L]), 100 patients with chronic kidney disease (CKD) not due to ADPKD (mean serum creatinine concentration 1.8 mg/dL [160 micromol/L]), and 100 healthy kidney donors [78]. A pericardial effusion was found in 35, 9, and 4 percent of ADPKD patients, patients with CKD, and healthy donors, respectively. Nearly 50 percent of effusions detected among patients with ADPKD were moderate to severe compared with none among those without ADPKD. Despite the large size, these effusions appear to be generally well tolerated and clinically inconsequential [77,79].

Other cardiac disorders, such as congenital heart malformations, primary cardiomyopathies (dilated, hypertrophic, and left ventricular noncompaction), and atrial fibrillation, also may be more common among patients with ADPKD compared with the general population [80-82].

DIVERTICULA AND HERNIAS — Colonic diverticula and abdominal wall and inguinal hernias are seen with increased frequency in patients with ADPKD [16,83-87]. As examples:

●Colonic diverticula are found in many ADPKD patients on maintenance dialysis [83] but may not occur with increased frequency in those without end-stage kidney disease (ESKD) [85]. Symptoms that may occur include abdominal pain (which may be difficult to distinguish from the pain induced by the kidney cysts), diarrhea, and heme-positive stools. The incidence of complications, such as colonic perforation, appears to be higher than seen with diverticular disease in patients without PKD and may be increased following transplant [16,83]. (See "Clinical manifestations and diagnosis of acute colonic diverticulitis in adults".)

●Diverticular disease of the duodenum, presenting with nausea, vomiting, abdominal pain, malabsorption, bile or pancreatic duct obstruction, may also be associated with ADPKD [88].

●Abdominal wall hernias were, in one series, found in 45 percent of patients with ADPKD; the incidence was much higher than in patients with other causes of chronic kidney disease (CKD) or general surgery patients (8 and 4 percent, respectively) [86]. Patients with ADPKD treated with continuous ambulatory peritoneal dialysis are also at increased risk for an indirect inguinal hernia, probably due to a high frequency of a patent processus vaginalis [87]. (See "Abdominal wall hernia and dialysate leak in peritoneal dialysis patients".)

OTHER — An association between abdominal aortic aneurysms and ADPKD has been proposed. However, a study that compared 139 patients with ADPKD and 149 controls was unable to demonstrate by ultrasonography an increase in either aortic diameter or the incidence of aneurysm formation in the patients with ADPKD [89]. Although aortic aneurysms do not appear to be an intrinsic feature of ADPKD, there may be some increase in risk in patients with uncontrolled hypertension.

Seminal vesicle cysts are present in 40 percent of male ADPKD patients [90-92]. Seminal vesicle cysts rarely result in infertility [93]. Defective sperm motility is another cause of male infertility in ADPKD [94,95]. Arachnoid membrane cysts occur in 8 percent and are usually an asymptomatic, incidental finding [96,97]. They may increase the risk for subdural hematomas [98,99]. Spinal meningeal diverticula may occur with increased frequency and rarely present with intracranial hypotension due to cerebrospinal fluid leak [100]. A review of computed tomography (CT) scans revealed a threefold-increased prevalence of bronchiectasis in ADPKD patients compared with a control population (37 versus 13 percent) [101].

There does not appear to be an enhanced risk of ovarian cysts among females with ADPKD [102,103].

MALIGNANCY — The overall risk of cancer may be increased among patients with ADPKD. This was suggested by a nationwide cohort study from Taiwan that compared cancer incidence among 8692 individuals with and without ADPKD [104]. After adjusting for multiple variables (age, sex, frequency of medical visits, comorbidities), compared with controls, ADPKD patients had a higher overall risk of cancer (hazard ratio 1.83, 95% CI 1.57-2.15). In contrast, another registry study of posttransplant ADPKD patients, when appropriately adjusted, showed a lower overall incidence of cancer [105].

The risk of renal cell cancer does not appear to be substantially higher among patients with ADPKD. This issue is discussed elsewhere. (See "Hereditary kidney cancer syndromes", section on 'Polycystic kidney disease'.)

SOCIETY GUIDELINE LINKS — Links to society and government-sponsored guidelines from selected countries and regions around the world are provided separately. (See "Society guideline links: Chronic kidney disease in adults".)

INFORMATION FOR PATIENTS — UpToDate offers two types of patient education materials, "The Basics" and "Beyond the Basics." The Basics patient education pieces are written in plain language, at the 5^th to 6^th grade reading level, and they answer the four or five key questions a patient might have about a given condition. These articles are best for patients who want a general overview and who prefer short, easy-to-read materials. Beyond the Basics patient education pieces are longer, more sophisticated, and more detailed. These articles are written at the 10^th to 12^th grade reading level and are best for patients who want in-depth information and are comfortable with some medical jargon.

Here are the patient education articles that are relevant to this topic. We encourage you to print or e-mail these topics to your patients. (You can also locate patient education articles on a variety of subjects by searching on "patient info" and the keyword(s) of interest.)

●Basics topic (see "Patient education: Polycystic kidney disease (The Basics)")

●Beyond the Basics topic (see "Patient education: Polycystic kidney disease (Beyond the Basics)")

SUMMARY AND RECOMMENDATIONS

●Extrarenal complications of ADPKD – The major extrarenal complications of autosomal dominant polycystic kidney disease (ADPKD) include cerebral aneurysms, hepatic and pancreatic cysts, cardiac valve disease, colonic diverticula, abdominal wall hernias, and seminal vesicle cysts. (See 'Introduction' above.)

●Risk of cerebral aneurysms and rupture – A ruptured cerebral aneurysm, resulting in a subarachnoid or intracerebral hemorrhage, is the most serious complication of PKD. Intracranial aneurysms occur in approximately 8 to 12 percent of patients with ADPKD. Patients with a family history of intracranial aneurysm or subarachnoid hemorrhage appear to be at greatest risk. Aneurysm rupture in ADPKD most often occurs with larger aneurysms, often before the age of 50 years and/or in patients with poorly controlled hypertension. (See 'Cerebral aneurysm' above.)

●Screening for cerebral aneurysms – We offer, although do not necessarily recommend, screening for cerebral aneurysm to all adult patients with ADPKD and discuss potential risks of preemptive treatment compared with risks of rupture of an undetected aneurysm. (See 'Screening' above.)

•Indications for screening – We screen patients with ADPKD who (see 'Indications for screening' above):

-Have a family history of an intracranial aneurysm or subarachnoid hemorrhage, particularly in a first degree relative

-Are scheduled to undergo major elective surgery

-Work in high-risk occupations in whom loss of consciousness would place the lives of others at risk

-Require chronic anticoagulation

•Rescreening – Among patients with initially negative radiographic studies, we rescreen every five years those who have a family history of intracerebral bleeding or cerebrovascular accident (CVA). (See 'Indications for screening' above.)

•Screening modalities – Screening modalities for cerebral aneurysm include high-resolution computed tomography angiography (CTA) or time-of-flight magnetic resonance angiography (MRA). Time-of-flight MRA does not require gadolinium contrast and can be performed safely at any level of glomerular filtration rate (GFR). (See 'Methods of screening' above.)

●Monitoring patients with small aneurysms – Among patients who have aneurysms that do not require surgical intervention, we suggest follow-up monitoring with CTA or MRA annually for two to three years and every two to three years thereafter if the aneurysm is clinically and radiographically stable. However, it is not unreasonable to reimage newly detected, small aneurysms at six months, since there is evidence that newly formed, small aneurysms may be at higher risk of rupture than older, more stable aneurysms. (See 'Monitoring patients with small aneurysms' above.)

●Hepatic cysts and cardiac disease – Although most patients with liver cysts remain asymptomatic with preserved hepatic function, some develop pain (which may require decompression or sclerotherapy of cysts if it is persistent and severe) and/or cyst infection. Cardiac manifestations of ADPKD include valvular abnormalities, coronary aneurysms, and asymptomatic pericardial effusions. (See 'Hepatic cysts' above and 'Cardiac disease' above.)

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Topic 1679 Version 34.0

خرید پکیج

Autosomal dominant polycystic kidney disease (ADPKD): Extrarenal manifestations

References