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Autosomal Dominant Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic condition characterized by bilateral renal cysts and fibrosis, which leads to a progressive loss of renal function and various associated symptoms.

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Presentation

Most individuals who are affected by ADPKD are diagnosed after a complication has occurred [15] [16]. With reference to complications affecting the urinary system, two of the most commonly observed manifestations are recurrent urinary tract infections or episodes of pyelonephritis. Hematuria is a frequent complication, caused by traumatization of the kidneys due to clots or stones, and is usually self-limited to a microscopic degree. The stones that develop are more commonly uric acid stones. Due to the progressive enlargement of the renal cystic lesions, the kidneys themselves also continue to expand, in terms of their dimensional space. They may be palpable if the size augmentation is considerable; if the cysts affect other organs as well, palpable viscera may be detected (splenomegaly, hepatomegaly). Hypertension is another common complication of ADPKD and is associated only with renal failure, but also with left ventricular hypertrophy (LVH). Patients often report pain felt at the lower part of the back, between the lower ribs and pelvis: hematuria, urinary tract infections or renal stones can be held accountable for such a symptom when it arises acutely and subsidies. Chronicity of the painful sensation is usually a result of the presence of the cysts or other, yet unidentified factors.

The autosomal dominant polycystic renal disease is not a condition that is limited to the kidneys. Multiple complications affect organs other than the kidneys and may, eventually, constitute the cause of death. Aneurysms are a common manifestation related to ADPKD and can be found in the cerebral vascular network, but also in the aorta or coronary artery, with dissections being a possible complication. Cardiovascular defects are frequent co-existent pathologies and include mitral valve prolapse and aortic insufficiency. The liver can also be affected, with cystic lesions developing in the hepatic parenchyma as well, but this type of complication usually causes no symptomatology; possible sequelae, however, include haemorrhage, rupture, and torsion. The pancreas is also sensitive to cystic development, with pancreatitis being a rare, but possible manifestation. Lastly, cysts located in the seminal vesicles can lead to infertility in male patients.

Splenomegaly
  • They may be palpable if the size augmentation is considerable; if the cysts affect other organs as well, palpable viscera may be detected (splenomegaly, hepatomegaly).[symptoma.com]
  • (If other organs are cystic there may be palpable hepatomegaly and even splenomegaly.) Gross haematuria following trauma is a classic presenting feature of ADPKD. It occurs in 30-50%. Renal colic due to clots in the collecting system can be severe.[patient.info]
Fever
  • Thus, if a patient exhibits fever after a colon EMR, for patients with ADPKD, then a liver cyst infection should also be considered in the differential diagnosis.[ncbi.nlm.nih.gov]
  • The fever subsided temporarily, but multiple infected liver cysts were observed on follow-up imaging examination; 4 months later, hepatectomy and LDLTA were performed.[ncbi.nlm.nih.gov]
  • The patient was hospitalized for fever, abdominal pain, and diarrhea. The blood culture identified Salmonella sp., but the source of infection was not detected by computed tomography or echography.[ncbi.nlm.nih.gov]
  • A 70-year-old man with a history of autosomal dominant polycystic kidney disease was referred for F-FDG PET/CT scans twice at 6-month intervals due to repeated fever with negative conventional imaging studies.[ncbi.nlm.nih.gov]
  • A 62-yr-old woman with an autosomal dominant polycystic kidney disease (ADPKD) was admitted to our hospital for further evaluation of intermittent fever, nausea and left flank discomfort.[ncbi.nlm.nih.gov]
Anemia
  • Renal function and anemia, which had been resistant to darbepoetin treatment, also improved after the procedure.[ncbi.nlm.nih.gov]
  • By means of intensive HD and optimal management of anemia, pregnancy was successfully maintained until vaginal delivery at 34.5 weeks of gestation.[ncbi.nlm.nih.gov]
  • For the ADPKD patient undergoing kidney transplantation, we highlight issues of anemia management and aneurysm screening pretransplant, the indications for nephrectomy of the native ADPKD kidneys, the potential benefits of select immunosuppressive agents[ncbi.nlm.nih.gov]
  • Health problems that may result from PKD include: Anemia Bleeding or rupture of cysts Long-term (chronic) kidney disease End-stage kidney disease High blood pressure Infection of liver cysts Kidney stones Liver failure (mild to severe) Repeated urinary[medlineplus.gov]
Fatigue
  • 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 Getting a Diagnosis If your doctor thinks there’s a problem with your kidneys, she may want[webmd.com]
  • One study investigated the pain associated with ADPKD in 22 patients using semistructured patient interviews. 11 Early-stage kidney disease was associated with less intense and durable pain; however, all levels of pain and fatigue had a negative impact[ajpb.com]
Infertility
  • Lastly, cysts located in the seminal vesicles can lead to infertility in male patients. Even though cystic lesions can independently arise as the age progresses, criteria have been determined for the diagnosis of ADPKD, depending on the age.[symptoma.com]
  • Male infertility is rare but can be due to cysts in the seminal vesicles and defective sperm motility. Pancreatic cysts can, rarely, cause recurrent pancreatitis.[patient.info]
Flank Mass
  • Clinical presentation is variable and includes 1 : dull flank pain of variable severity and time course: most common abdominal or flank masses hematuria hypertension: usually develops at the same time as renal failure renal functional impairment to renal[radiopaedia.org]
  • PATIENTS AND METHODS Seventeen patients presenting with suspected symptomatic simple renal cysts were referred for trial aspiration; 16 presented with loin pain and one with a flank mass.[doi.org]
Severe Clinical Course
  • On the other hand, her grandson had a severe clinical course (end stage renal disease at the age of 45) in spite of the early treatment of mild hypertension.[ncbi.nlm.nih.gov]
Abdominal Pain
  • Post kidney transplant recipients with ADPKD presenting with abdominal pain should prompt a search for possible perforated colonic diverticulitis in order to diagnose and treat this life-threatening condition early.[ncbi.nlm.nih.gov]
  • We report a case of 64-year-old male with ADPKD, who required renal transplantation some years before, with recent recurrent episodes of fever and abdominal pain, who underwent 18F-FDG PET/CT twice at 18 months intervals, after not conclusive conventional[ncbi.nlm.nih.gov]
  • We present a 65-year-old woman with autosomal dominant polycystic kidney disease on regularly hemodialysis who recently experienced intermittent right upper quadrant abdominal pain and elevated intact parathyroid hormone for more than a year.[ncbi.nlm.nih.gov]
  • The patient was a 67-year-old Japanese man who developed fever and right-side abdominal pain, and liver cyst infection was suspected. Treatment with multiple antibiotics was ineffective.[ncbi.nlm.nih.gov]
  • The patient was hospitalized for fever, abdominal pain, and diarrhea. The blood culture identified Salmonella sp., but the source of infection was not detected by computed tomography or echography.[ncbi.nlm.nih.gov]
Nausea
  • A 62-yr-old woman with an autosomal dominant polycystic kidney disease (ADPKD) was admitted to our hospital for further evaluation of intermittent fever, nausea and left flank discomfort.[ncbi.nlm.nih.gov]
  • We report a case of an ADPKD patient post kidney transplantation presenting with nausea, vomiting, and abdominal pain without signs of peritonitis. Chest x-ray revealed free air under the diaphragm consistent with intestinal perforation.[ncbi.nlm.nih.gov]
  • 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 Getting a Diagnosis If your doctor thinks there’s a problem with your kidneys, she may want[webmd.com]
  • ., early satiety, nausea and vomiting, and abdominal discomfort), from their enlarged kidneys.[en.wikipedia.org]
  • Symptoms and signs of unruptured cerebral aneurysm can be absent or may include headache, nausea and vomiting, and cranial nerve deficits; these manifestations warrant immediate intervention (see Vascular Lesions in the Brain ).[merckmanuals.com]
Vomiting
  • We report a case of an ADPKD patient post kidney transplantation presenting with nausea, vomiting, and abdominal pain without signs of peritonitis. Chest x-ray revealed free air under the diaphragm consistent with intestinal perforation.[ncbi.nlm.nih.gov]
  • As the condition progresses, you may also have one or more of the following symptoms: severe headaches vision problems, such as blurred vision, or seeing flashing lights before your eyes pain in your upper abdomen (just below your ribs) vomiting excessive[hse.ie]
  • ., early satiety, nausea and vomiting, and abdominal discomfort), from their enlarged kidneys.[en.wikipedia.org]
  • Symptoms and signs of unruptured cerebral aneurysm can be absent or may include headache, nausea and vomiting, and cranial nerve deficits; these manifestations warrant immediate intervention (see Vascular Lesions in the Brain ).[merckmanuals.com]
  • ., nausea and vomiting, lethargy, photophobia, focal signs, seizure, transient ischemic attack, loss of consciousness) Family history of intracranial aneurysm or intracranial hemorrhage High-risk occupation (e.g., airline pilot) New-onset severe headache[aafp.org]
Abdominal Mass
  • A 46-year-old Japanese woman was referred with a large abdominal mass causing severe abdominal distension. A large uterine cyst as an extrarenal manifestation of ADPKD was strongly suspected.[ncbi.nlm.nih.gov]
  • We investigated the relationship of intra-abdominal mass with nutritional status. METHODS: This cross-sectional study was performed at a tertiary hospital outpatient clinic.[ncbi.nlm.nih.gov]
  • masses, urinary tract infection, renal failure, renal stones, and cerebrovascular accidents. 2 Extrarenal complications are common and include hepatic cysts, hypertension, left ventricular hypertrophy, valvular heart disease, intracranial and extracranial[mdedge.com]
  • The most common abnormalities related to the kidneys are arterial hypertension, abdominal mass, urinary tract infection (UTI), lumbar or abdominal pain, hematuria, nephrolithiasis, and renal failure.[sjkdt.org]
Left Upper Quadrant Pain
  • A 42-year-old man known to have autosomal dominant polycystic kidney disease presented with sudden left-upper-quadrant pain and hypotension. Sonography performed in the emergency department showed echogenic fluid in the left upper quadrant.[emedicine.com]
Hypertension
  • The predictor was parental sex, and outcomes were diagnosis of hypertension, progression to ESRD, and death.[ncbi.nlm.nih.gov]
  • Occlusion of the renal artery is uncommon in ADPKD and can be associated with hypertension.[ncbi.nlm.nih.gov]
  • The development of hypertension is related to an increase in renal volume.[ncbi.nlm.nih.gov]
  • This article gives an overview of hypertension, cardiac complications, and intracranial aneurysms in ADPKD, their pathophysiology, and recent developments in their management. Copyright 2017 Cleveland Clinic. [Indexed for MEDLINE] Free full text[ncbi.nlm.nih.gov]
  • Hypertension is another common complication of ADPKD and is associated only with renal failure, but also with left ventricular hypertrophy (LVH).[symptoma.com]
Hepatomegaly
  • These findings suggest that performance of PD may be limited by renomegaly and hepatomegaly in patients with PKD.[ncbi.nlm.nih.gov]
  • However, in rare cases the condition may be complicated with massive hepatomegaly leading to compression of the surrounding organs, or acute complications [ 2 ].[omicsonline.org]
  • They may be palpable if the size augmentation is considerable; if the cysts affect other organs as well, palpable viscera may be detected (splenomegaly, hepatomegaly).[symptoma.com]
  • (If other organs are cystic there may be palpable hepatomegaly and even splenomegaly.) Gross haematuria following trauma is a classic presenting feature of ADPKD. It occurs in 30-50%. Renal colic due to clots in the collecting system can be severe.[patient.info]
Hepatosplenomegaly
  • Sequelae affecting other organs are multiple, such as hepatosplenomegaly, cerebral aneurysms that are susceptible to rupturing, heart valvular defects and others.[symptoma.com]
Back Pain
  • A 64-year-old Japanese man with renal dysfunction caused by autosomal dominant polycystic kidney disease (ADPKD) was admitted to our hospital for evaluation of right back pain, fever, inflammation, and pleural effusion.[ncbi.nlm.nih.gov]
  • AD should be always ruled out in ADPKD subjects with chest and back pain symptoms, despite them being young and at lower risk.[ncbi.nlm.nih.gov]
  • A 48-year-old man with autosomal dominant polycystic kidney disease (ADPKD) was admitted to our hospital with a 5-day history of lower right back pain, high-grade fever, and arthralgia.[ncbi.nlm.nih.gov]
  • Possible complications are urinary tract infections and kidney infections that recur, kidney stones, hypertension even when the kidneys function properly, blood in the urine, enlarged kidneys that may be palpable, back pain and, ultimately, kidney failure[symptoma.com]
  • In those who go on to become symptomatic, this occurs by the end of the second decade in life, where flank pain, abdominal and lower back pain due to cystic enlargement and symptoms of infection are the most common complaints.[almostadoctor.co.uk]
Low Back Pain
  • Symptoms tend to result from mass effect (eg, dyspnoea, early satiety, gastro-oesophageal reflux, low back pain, ascites, oesophageal varices, obstructive jaundice) or from cyst complications (eg, haemorrhage, infection, torsion or rupture).[patient.info]
  • However, symptoms resulting from significant liver enlargement can include shortness of breath, early satiety or loss of appetite, abdominal discomfort, esophageal reflux, lower extremity edema, low back pain, and rarely inferior vena cava compression[aafp.org]
Headache
  • Evaluating Headaches See your doctor if you have severe or recurring headaches — especially if they feel different from other headaches you've had. They could be caused by an aneurysm in the brain, which could be extremely dangerous if it ruptures.[ucsfhealth.org]
  • You have a very bad headache, or you have frequent headaches. You have swelling in any part of your body. You have pain in your abdomen. You have yellowing of your eyes or skin. You see blood in your urine.[drugs.com]
  • Subarachnoid haemorrhage Symptoms of a subarachnoid haemorrhage include: a sudden and severe headache, which has been described as a 'thunderclap headache' - it is similar to a sudden hit on the head and causes a blinding pain that is unlike anything[hse.ie]
  • Although there is no cure for ADPKD, treatment can ease symptoms and prolong life. [1] Last updated: 11/7/2016 The most common symptoms of ADPKD are pain in the back and the sides—between the ribs and hips—and headaches.[rarediseases.info.nih.gov]
  • Headaches that are severe or that seem to feel different from other headaches might be caused by aneurysms—blood vessels that balloon out in spots—in the brain. These aneurysms could rupture, which can have severe consequences.[web.archive.org]
Kidney Failure
  • When kidney function starts to decline, treatment is aimed at slowing down the progression to kidney failure.[genome.gov]
  • Abstract Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most prevalent monogenic kidney disorder leading to kidney failure.[ncbi.nlm.nih.gov]
  • Abstract Autosomal dominant polycystic kidney disease is the most common inherited kidney disease in the United States, causing hypertension, cerebral aneurysms, nephrolithiasis, and kidney failure.[ncbi.nlm.nih.gov]
  • In this condition, the kidneys are grossly enlarged with multiple cysts that result in kidney failure in a majority of individuals. This condition is also associated with cysts in other organs.[ncbi.nlm.nih.gov]
  • On average, around half of people with ADPKD require treatment for kidney failure by the time they're 60.[nhs.uk]
Hematuria
  • […] persistent gross hematuria. 2017 The Author(s)Published by S.[ncbi.nlm.nih.gov]
  • The pain subsides in 2 days with analgesics, rest, and fluids; the gross hematuria resolves in 4 days, although microscopic hematuria persists. Funding and Disclosures Supported by NIDDK/NIH 5U01DK056943-08. Dr.[doi.org]
  • A 60-year-old Japanese woman (case 1) and a 54-year-old Japanese woman (case 2) presented with RPGN featuring severe proteinuria and microscopic hematuria.[ncbi.nlm.nih.gov]
  • A 44-year-old woman visited our hospital for a fever, appetite loss, and gross hematuria. Because the patient was suffering from end-stage renal disease (ESRD), she was immediately hospitalized for hemodialysis.[ncbi.nlm.nih.gov]
  • Urine study showed proteinuria (21 g/d) and hematuria. Kidney biopsy report was compatible with focal and segmental sclerosis. The patient received prednisolone and cyclosporine. After 4 months, proteinuria decreased to 600 mg/d.[ncbi.nlm.nih.gov]
Flank Pain
  • We present a case of a 23-year-old man presenting with bilateral flank pain. On evaluation he was diagnosed to have ADPKD with bilateral renal calculi and left-sided PUJ obstruction.[ncbi.nlm.nih.gov]
  • Treatment of Autosomal Dominant Polycystic Kidney Disease Medical Treatment: Treatment of arterial hypertension Antibiotic treatment of urinary tract infections Management of Flank Pain: Bleeding of infection of cysts may be responsible for flank pain[urology-textbook.com]
  • Flank pain was reported in 38.9%; macroscopic hematuria, in 31.1%; and cyst infections, in 15.3% of patients.[ncbi.nlm.nih.gov]
  • In those who go on to become symptomatic, this occurs by the end of the second decade in life, where flank pain, abdominal and lower back pain due to cystic enlargement and symptoms of infection are the most common complaints.[almostadoctor.co.uk]
  • Clinical presentation is variable and includes 1 : dull flank pain of variable severity and time course: most common abdominal or flank masses hematuria hypertension: usually develops at the same time as renal failure renal functional impairment to renal[radiopaedia.org]
Renal Stone
  • The incidence of renal stones is higher in hypertensive than in normotensive ADPKD patients, although evidence has to be established whether nephrolithiasis is a risk factor for hypertension or the other way around. 25 Figure 1.[mdedge.com]
  • KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Management of Renal Stone Disease, 603-606, Copyright Elsevier (2015).[cari.org.au]
  • Renal stones are managed with the same strategies as in the general population. Renal pain [ 5 ] Treat the cause where possible - eg, renal stones, infection.[patient.info]
  • Renal stones and hepatic cysts were present in 24% and 40%, respectively. The majority of the ADPKD patients (61%) were diagnosed either incidentally or by screening. Positive family history was recorded in 86 patients.[ncbi.nlm.nih.gov]
  • STONES Nephrolithiasis is twice as common in those with ADPKD (lifetime prevalence of approximately 20%) than in the general population. 1, 21 Renal stones should be suspected in patients who have flank pain with or without hematuria.[aafp.org]
Nocturia
  • Higher concentrations of tolvaptan were less well tolerated, resulting in adverse events of pollakiuria, thirst, polyuria, nocturia, and a higher number of times out of bed to urinate.[ncbi.nlm.nih.gov]
  • The prevalence of nocturia, hypertension, and renal dysfunction showed a significant increase with age ( P 0.001).[sjkdt.org]
  • More patients in the tolvaptan group (7.7%) permanently discontinued treatment in the first 28 days because of polyuria, nocturia, pollakiuria, and polydipsia compared with those in the placebo group (1.0%).[medscape.com]
  • Complications associated with renal disease Impaired urine concentrating capacity is a common early presentation with problems associated with excessive water and salt loss such as nocturia.[patient.info]
  • In fact, a substantial number of patients in the placebo group reported polyuria (17.2%) and nocturia (13.0%).[doi.org]

Workup

Even though cystic lesions can independently arise as the age progresses, criteria have been determined for the diagnosis of ADPKD, depending on the age. Ultrasonography or magnetic resonance imaging are useful tools for the detection of cysts, whether renal, hepatic or pancreatic, and can be employed to detect the condition in individuals at risk who have not surpassed the age of 40 years old. Patients who possess two or more risk factors for ADPKD and are younger than 40 years old are considered disease-free when the number of cysts in the kidneys does not exceed 5 [17].

Genetic testing for both PKD1 and PKD2 genetic mutations is currently available. Tests aiming at the detection of a PKD1 mutation, however, are hardly cost-effective due to the extreme complexity and large size of the gene [18] [19].

Nephrolithiasis
  • Abstract Autosomal dominant polycystic kidney disease is the most common inherited kidney disease in the United States, causing hypertension, cerebral aneurysms, nephrolithiasis, and kidney failure.[ncbi.nlm.nih.gov]
  • […] of nephrolithiasis compared to females (0.044).[sjkdt.org]
  • Autosomal dominant polycystic kidney disease (ADPKD) is a monogenetic disorder that features bilateral renal cysts, nephrolithiasis, hypertension and gradually developing renal failure, induced by the expansion of the cysts and fibrosis.[symptoma.com]
  • Overall prognosis: Overall prognosis has become better due to better treatment options of complications like urinary tract infection, nephrolithiasis, hypertension or renal insufficiency.[urology-textbook.com]
  • The incidence of renal stones is higher in hypertensive than in normotensive ADPKD patients, although evidence has to be established whether nephrolithiasis is a risk factor for hypertension or the other way around. 25 Figure 1.[mdedge.com]
Multiple Renal Cysts
  • Both were found to have multiple renal cysts on pretreatment imaging done for staging. The proband, his brother, and their mother, were all found to have a novel splice variant in intron 8 of the PKD1 gene by clinical exome sequencing.[ncbi.nlm.nih.gov]
  • Abdominal sonography, multiphase CT and MRI were performed in order to localise and resect the primary tumour, but its identification was severely hampered owing to multiple renal cysts.[ncbi.nlm.nih.gov]
  • Penetrance: Age-dependent; nearly all older adults develop multiple renal cysts. The average age of onset for ESRD in individuals with PKD1 and PKD2 mutations is 54 and 74 years, respectively. Cause: Pathogenic PKD1 or PKD2 gene mutations.[ltd.aruplab.com]
  • Although laparoscopic unroofing of simple renal cysts has proved to be an effective form of therapy, its use for treatment of multiple renal cysts or symptomatic autosomal dominant polycystic kidney disease only recently has been investigated.[ncbi.nlm.nih.gov]
  • ADPKD ACCOUNTS FOR 10% OF END-STAGE RENAL DISEASE ADPKD is a genetic condition characterized by multiple renal cysts. 1 Progressive enlargement of these cysts leads to a gradual decline in kidney function and eventually end-stage renal disease by the[mdedge.com]
Right Pleural Effusion
  • This is the first report of an infected hepatic cyst in an ADPKD patient presenting with and diagnosed by right pleural effusion.[ncbi.nlm.nih.gov]
Pyuria
  • Pyuria is common even without bacterial infection; thus diagnosis of infection should be based on culture results and clinical findings (eg, dysuria, fever, flank pain) as well as urinalysis.[merckmanuals.com]

Treatment

Autosomal dominant polycystic kidney disease cannot be cured, but can be symptomatically managed, depending on the complications:

In general, patients are carefully monitored with frequent follow-ups, due to the need to slow the progression to end-stage renal disease down. Management of the elevated blood pressure, hyperlipidemia, control of acidosis and restricted protein intake are paramount towards this cause. Further complications, such as ruptured cerebral aneurysms or cardiac abnormalities, are also managed symptomatically.

Patients who have reached ESRD require renal transplantation [20] [21] [22] [23] [24], with living kidney donation viewed as the best option [25]. Should there not be a transplantation option, hemodialysis or peritoneal dialysis can also be useful, although with poorer long-term effects.

Prognosis

ADPKD is a condition with a generally poor prognosis, as the majority of the patients are ultimately lead to end-stage renal disease if they reach the age of 65. Kidney failure has been diagnosed even in pediatric patients, whereas a minority may be affected by the disease and be unaware of it. In general, renal cysts continue to grow in size and eventually lead to renal insufficiency and failure; the size of the kidneys is inversely proportional to the level of GFR [8] [9].

Furthermore, the genotype of the affected individual plays an important role in a prognostic sense, as patients who are diagnosed with ADPKD 1 exhibit severer symptomatology and usually reach end-stage renal disease (ESRD) at the age of 53 [10] [11]. On the other hand, ADPKD2 individuals are diagnosed with renal failure at an average age of 68, even though the symptoms grossly remain the same. Various other risk factors have been incriminated for severer ADPKD, with the complete list being the following:

Most patients affected by autosomal dominant polycystic kidney disease succumb due to cardiovascular events. Another frequent cause of death is infections, usually systemic, cerebral aneurysms or uremia [14].

Etiology

The vast majority of the patients affected by ADPKD exhibit mutations in a single gene, the PKD1 found on chromosome 16, with its exact location being 16p13.3. Variations of the PKD2 gene (4q22.1) have also been observed, although in a minority of the patients. The type of mutation that is present varies between missense, truncating, nontruncating mutations, deletions and atypical splicing [3].

Epidemiology

Nearly 10% of all individuals requiring renal replacement therapy are ADPKD patients; the disorder is believed to affect approximately 5.5 million on a worldwide scale [4]. It is thought that 1 out of 1000 people carry an ADPKD-associated mutation, with most patients being affected by an abnormal PKD1 gene, at a rate of 85% [5]. The condition does lead to more profound symptomatology and complications in male patients when compared to females, but the discrepancy is not significant.

Sex distribution
Age distribution

Pathophysiology

ADPKD is primarily characterized by cystic lesions that are found on both kidneys and follow an expanding course; other features may include cerebral aneurysms and defective cardiac valves [6] [7].

With regard to the kidneys, the cysts are initially formed on the wall of the tubule and contain liquid material that reaches the location from glomerular filtrate that enters via the afferent segment. The cysts increase their dimensions continually, a fact which leads to their ultimately being detached from the tubule; upon their separation, a sac is left behind that continues to fill with transepithelial secretions, which also grows at a continuous rate. This change in the structure and architecture of the renal parenchyma causes fibrosis and lamination of the basement membranes of the tubules, neovascularization and a secondary infiltration by white blood cells, particularly macrophages.

The condition is a consequence of abnormalities in the PKD1 or PKD2 genes, which produce polycystin 1 and 2 respectively. The two genes are expressed in almost every organ of the body. Cyclic adenosine monophosphate (cAMP) as well as growth factors such as EGF definitely influence cellular growth and fluid production in a positive manner.

Prevention

Given that each offspring of an affected individual has 50% chance of inheriting the PKD1 or PKD2 mutation, prenatal testing should be encouraged. [26] [27].

Summary

Autosomal dominant polycystic kidney disease (ADPKD) is a monogenetic disorder that features bilateral renal cysts, nephrolithiasis, hypertension and gradually developing renal failure, induced by the expansion of the cysts and fibrosis [1] [2].

It affects approximately 5 million people internationally and occurs as a result of modifications of a single gene, PKD1 or PKD2. Although the clinical picture of the patients encompasses the same characteristics irrespective of the type of mutation, it is known that the PKD1 genotype entails severer symptomatology and a poorer prognosis. Most patients with such a mutation are expected to be in need of renal replacement therapy at an age of 10 years prior to those affected by the PKD2 mutation.

It has been estimated that nearly 10% of all individuals requiring renal replacement therapy do so because of complications of this particular disorder. The kidneys are the main target of ADPKD; cystic lesions follow a continually expanding course, altering the architecture of the parenchyma and interfering with the organ's functions: complications of ADPKD include nephrolithiasis, hematuria, recurrent urinary tract infections or pyelonephritis, hypertension and osphyalgia. The liver, spleen, brain and heart may also be affected, as the disease is not necessarily limited to the kidneys. Sequelae affecting other organs are multiple, such as hepatosplenomegaly, cerebral aneurysms that are susceptible to rupturing, heart valvular defects and others.

Autosomal dominant polycystic kidney disease is a condition that can only be symptomatically treated and is expected, in the majority of the cases, to lead to end-stage renal disease and renal replacement therapy. Kidney transplantation is the optimum choice, if this stage has been reached.

Patient Information

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic condition, which causes cysts to form in the kidneys and in other organs such as the liver or pancreas. It is caused by mutations in one of the two genes, PKD1 or PKD2, which are expressed in almost every organ. ADPKD is inherited through the autosomal pattern, which means, that every individual who possesses even one defective gene will be affected by the condition.

ADPKD is a genetic condition; therefore the cause is a genetic mutation. However, those affected with a PKD1 mutation experience severer symptoms. Other risk factors for severer manifestations of ADPKD include hypertension, multiple pregnancies, African descent, the PKD1 mutation, excessively enlarged kidneys, many episodes of pyelonephritis and others.

The condition is usually diagnosed when complications arise. Possible complications are urinary tract infections and kidney infections that recur, kidney stones, hypertension even when the kidneys function properly, blood in the urine, enlarged kidneys that may be palpable, back pain and, ultimately, kidney failure. Other complications can affect the liver (cysts), the brain (aneurysms) or the heart (valve abnormalities). The condition is diagnosed usually based on the number of cysts present, in combination with the risk factors each individual possesses. Ultrasonographic scans or magnetic resonance imaging scans are used to detect cysts. Genetic testing is also available if parents with ADPKD are planning to have offspring.

ADPKD cannot be cured, as it is a genetic disease. However, its symptoms can be managed and its progression can, in many cases, be delayed. Patients receive antihypertensive medication for hypertension, pain-relievers for the loin pain, antibiotics for the infections and various treatments for the cysts themselves. Brain aneurysms and heart defects are treated primarily surgically. At the final stages of the disease, if renal failure is diagnosed, the patient will require transplantation; if it is not an option, they may be treated with hemodialysis.

References

Article

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  2. Romão EA, Moysés Neto M, Teixeira SR, et al. Renal and extrarenal manifestations of autosomal dominant polycystic kidney disease open link. Braz J Med Biol Res. 2006;39:533–538.
  3. Rossetti S, Consugar MB, Chapman AB,et al. Consortium C. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2007;18: 2143–2160.
  4. Akoh JA. Current management of autosomal dominant polycystic kidney disease. World J Nephrol. 2015 Sep 6; 4 (4):468-79.
  5. Fary Ka E, Seck SM, Niang A, et al. Patterns of autosomal dominant polycystic kidney diseases in black Africans. Saudi J Kidney Dis Transpl. 2010 Jan; 21(1):81-6.
  6. Pirson Y. Extrarenal Manifestations of Autosomal Dominant Polycystic Kidney Disease. Adv Chronic Kidney Dis. 2010 Mar; 17(2):173-180.
  7. Tufan F, Uslu B, Cekrezi B, et al. Assessment of Adrenal Functions in Patients with Autosomal Dominant Polycystic Kidney Disease. Exp Clin Endocrinol Diabetes. 2011;118(10):741-6. doi: 10.1055/s-0029-1237698.
  8. Grantham JJ, Chapman AB, Torres VE. Volume progression in autosomal dominant polycystic kidney disease: the major factor determining clinical outcomes. Clin J Am Soc Nephrol. 2006 Jan; 1(1):148-57.
  9. Grantham JJ, Torres VE, Chapman AB, et al. Volume progression in polycystic kidney disease. N Engl J Med. 2006 May 18; 354(20):2122-30.
  10. Hateboer N, v Dijk MA, Bogdanova N, et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet. 1999 Jan 9; 353(9147):103-7.
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Last updated: 2019-07-11 19:55