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]

• Asymptomatic

  Do not routinely screen asymptomatic patients for ADPKD or asymptomatic patients who have ADPKD for cerebral aneurysms. Arrange genetic counseling for 1st-degree relatives of patients with ADPKD. [merckmanuals.com]

  We describe a father and daughter who each has a posterior fossa arachnoid cyst and asymptomatic ADPKD. [pediatrics.aappublications.org]

  Blood pressure values and asymptomatic organ damage were used to assess the cardiovascular risk according to renal volume tertiles.Even though in the normotensive range, ADPKD patients show higher blood pressure and major asymptomatic organ damage than [ncbi.nlm.nih.gov]

• Fever

  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]

  Fever is common with acute pyelonephritis, and rupture of cysts into the retroperitoneal space may cause a fever that can last for weeks. Hepatic cysts may cause right upper quadrant pain if they enlarge or become infected. [merckmanuals.com]

• Anemia

  Renal function and anemia, which had been resistant to darbepoetin treatment, also improved after the procedure. [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 [nlm.nih.gov]

• Infertility

  Our team includes specialists in nephrology, hepatology, cardiology, radiology, reproductive endocrinology and infertility, maternal-fetal medicine, nutrition and genetics. [ucsfhealth.org]

  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]

  Rarely, hepatic cyst infection can develop and requires antibiotic treatment or drainage. 16 Seminal vesicle cysts may cause male infertility. 16 Hypertension Many patients with ADPKD have hypertension that typically occurs early in the disease and is [journals.lww.com]

  Cysts affecting the seminal vesicles can potentially cause infertility. ADPKD can also potentially affect the heart and blood vessels (cardiovascular system). Involvement of the valves of the heart can cause mitral valve prolapse. [rarediseases.org]

• 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]

  Signs and symptoms Pain—in the abdomen, flank, or back—is the most common initial complaint, and it is almost universally present in patients with ADPKD. [emedicine.medscape.com]

• 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]

  Symptoms usually appear at middle age and include abdominal pain, hematuria and high blood pressure. Patients may develop brain aneurysms and liver cysts ICD-9-CM Volume 2 Index entries containing back-references to 753.13 : [icd9data.com]

  Symptoms include low-grade flank, abdominal, and lower back pain due to cystic enlargement and symptoms of infection. Acute pain, when it occurs, is usually due to hemorrhage into cysts or passage of a calculus. [merckmanuals.com]

• 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]

  Symptoms include pain, nausea, early satiety, constipation, hypertension, recurrent pyelonephritis, and gross hematuria which can all markedly affect quality of life. [aclr.com.es]

  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]

  Indications to Screen for Intracranial Aneurysm in Patients with ADPKD Before major elective surgery Central nervous system signs or symptoms (e.g., nausea and vomiting, lethargy, photophobia, focal signs, seizure, transient ischemic attack, loss of consciousness [aafp.org]

• 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]

  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]

  Indications to Screen for Intracranial Aneurysm in Patients with ADPKD Before major elective surgery Central nervous system signs or symptoms (e.g., nausea and vomiting, lethargy, photophobia, focal signs, seizure, transient ischemic attack, loss of consciousness [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]

  The most common abnormalities related to the kidneys are: arterial hypertension, abdominal mass, urinary tract infection, lumbar or abdominal pain, hematuria, nephrolithiasis, and renal failure. [scielo.br]

  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

  Hypertension is another common complication of ADPKD and is associated only with renal failure, but also with left ventricular hypertrophy (LVH). [symptoma.com]

  Control of complications (eg, hypertension, infection, renal failure) Supportive measures Strict control of hypertension is essential. Typically an ACE inhibitor or angiotensin receptor blocker is used. [merckmanuals.com]

  Hypertension was the most common manifestation of ADPKD patients with 69.7% being hypertensive. There was a significant increase of hypertension with age and CKD stage ( P = 0.001). [sjkdt.org]

  Pathogenesis and treatment of hypertension and left ventricular hypertrophy in ADPKD. Hypertension in ADPKD is multifactorial ( Figure 1 ). [mdedge.com]

  The prognosis is worse in individuals with ADPKD if symptoms of renal enlargement and hematuria start before the age of 30 or if hypertension is diagnosed before age 35. [news-medical.net]

• 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]

  Liver transplantation: In cases of portal hypertension due to polycystic liver or hepatomegaly with nonresectable areas Patients with ADPKD who progress to end-stage renal disease may require the following procedures: Hemodialysis Peritoneal dialysis [emedicine.medscape.com]

• 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]

  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. [symptoma.com]

  Back and/or flank pain with hematuria are the usual presenting symptoms, but long-term hypertension is the key objective finding. [mdedge.com]

• 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]

  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]

  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. [drugs.com]

  The most common symptoms are kidney cysts, pain in the back and the sides and headaches. Other symptoms include liver and pancreatic cysts, urinary tract infections, abnormal heart valves, high blood pressure, kidney stones, and brain aneurysms. [rarediseases.info.nih.gov]

• Difficulty Concentrating

  A wide variety of symptoms may be associated with end stage renal disease including fatigue, weakness, weight loss, difficulty breathing, nausea, vomiting, and cognitive problems such as difficulties concentrating or thinking clearly. [rarediseases.org]

• Kidney Failure

  When kidney function starts to decline, treatment is aimed at slowing down the progression to kidney failure. [genome.gov]

  As compared to a normal size kidney, which is about the size of a human fist, polycystic kidneys can grow as a large as a football and weigh up to 38 pounds each. This can lead to kidney failure and the need for dialysis or kidney transplantation. [palladiobio.com]

  Symptoms usually start when patients are in their 30s and the disease often progresses more rapidly to kidney failure. [ucsfhealth.org]

  […] stones Kidney function will gradually deteriorate until so much is lost that kidney failure occurs. [nhs.uk]

• Hematuria

  Urinalysis detects mild proteinuria and microscopic or macroscopic hematuria. Gross hematuria may be due to a dislodged calculus or to hemorrhage from a ruptured cyst. [merckmanuals.com]

  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. [symptoma.com]

  Patients with recurrent episodes of gross hematuria have the largest kidneys and progress more quickly to kidney failure. [16] Gross or microscopic hematuria was reported in 21.6% patients in our study. [sjkdt.org]

  Cystic hemorrhages usually resolve within one week, although microscopic hematuria may still be present. [aafp.org]

  […] persistent gross hematuria. © 2017 The Author(s)Published by S. [ncbi.nlm.nih.gov]

• Flank Pain

  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]

  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]

  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]

  Pain is the most common symptom in those with ADPKD and may present as back, chest, abdominal, or flank pain, or a combination. 1, 14 Although pain may be secondary to cyst rupture or the enlarged kidney compressing surrounding structures, it can also [aafp.org]

• Nephrolithiasis

  […] 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]

  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]

  Indications for nephrectomy include recurrent and/or severe infection, symptomatic nephrolithiasis, recurrent and/or severe bleeding, intractable pain, suspicion of renal cancer, and space restrictions prior to transplantation. [hindawi.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]

• Polyuria

  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]

  Tolvaptan appears to slow increase in renal volume and decline in renal function, but it can cause adverse effects via free water diuresis (eg, thirst, polydipsia, polyuria) that can make adherence difficult. [merckmanuals.com]

  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]

  Common side effects include: thirst passing more than 3 litres (just over 5 pints) of urine a day (polyuria) the need to pee frequently, more than 4 or 5 times during the day and more than once at night (pollakiuria) the need to pass urine at night (nocturia [nhs.uk]

  The main side effects of tolvaptan are polyuria and nocturia, which are caused by inhibition of the effect of ADH. [aerzteblatt.de]

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

  […] 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]

  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]

  Indications for nephrectomy include recurrent and/or severe infection, symptomatic nephrolithiasis, recurrent and/or severe bleeding, intractable pain, suspicion of renal cancer, and space restrictions prior to transplantation. [hindawi.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]

• 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]

  Renal findings include: bilateral renal cysts, renal insufficiency, renal pain, hypertension, dilated renal tubules, enlarged kidneys, and end-stage renal disease (ESRD). [ltd.aruplab.com]

  […] hypoplasia, unspecified Q60.6 Potter's syndrome Q61 Cystic kidney disease Q61.0 Congenital renal cyst Q61.01 Congenital single renal cyst Q61.02 Congenital multiple renal cysts Q61.1 Polycystic kidney, infantile type Q61.11 Cystic dilatation of collecting [icd10data.com]

• 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]

• Creatinine Increased

  He had worsening renal function with serum creatinine increasing from 5 mg/dL to 8.8 mg/dL. Patient was started on hemodialysis. [aclr.com.es]

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

• Hypertension: Dietary adaptations and antihypertensive agents, such as ACE inhibitors or angiotensin receptor blockers
• Back pain: Pain-relievers (nonopioid), narcotic analgesics or nerve blockade
• Urinary tract infections: Depending on the pathogen, possible antibiotic treatments encompass trimethoprim-sulfamethoxazole, fluoroquinolones, clindamycin and metronidazole
• Cystic lesions: Sclerosis, aspiration or fenestration

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.

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:

• Hypertension
• PKD1 genotype
• Large, hyperplastic kidneys
• Episodes of gross hematuria [12]
• African descent [13]
• Multiple occurrences of pyelonephritis
• Multiple pregnancies
• Men

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].

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].

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.

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.

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].

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.

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.

1. Dell KM. The spectrum of polycystic kidney disease in children. Adv Chronic Kidney Dis. 2011;18:339–347.
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.
11. Torra R, Badenas C, Darnell A, et al. Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2. J Am Soc Nephrol. 1996 Oct; 7(10):2142-51.
12. Idrizi A, Barbullushi M, Petrela E, et al. The influence of renal manifestations to the progression of autosomal dominant polycystic kidney disease. Hippokratia. 2009 Jul; 13(3):161-4.
13. 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
14. Chauveau D, Pirson Y, Verellen-Dumoulin C, et al. Intracranial aneurysms in autosomal dominant polycystic kidney disease. Kidney Int. 1994 Apr;45(4):1140-6.
15. Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet. 2007 Apr 14;369(9569):1287-301.
16. Grantham JJ. Clinical practice. Autosomal dominant polycystic kidney disease. N Engl J Med. 2008 Oct 2;359(14):1477-85.
17. Pei Y, Hwang YH, Conklin J, et al. Imaging-based diagnosis of autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2015;26(3):746-53.
18. Rossetti S, Consugar MB, Chapman AB, et al. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2007;18:2143–2160.
19. Audrézet MP, Cornec-Le Gall E, Chen JM, et al. Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. Hum Mutat. 2012;33:1239–50.
20. Perrone RD, Ruthazer R, Terrin NC. Survival after end-stage renal disease in autosomal dominant polycystic kidney disease: contribution of extrarenal complications to mortality. Am J Kidney Dis. 2001;38:777–784.
21. Mosconi G, Persici E, Cuna V, et al. Renal transplant in patients with polycystic disease: the Italian experience. Transplant Proc. 2013;45:2635–2640.
22. Martinez V, Comas J, Arcos E, et al. Renal replacement therapy in ADPKD patients: a 25-year survey based on the Catalan registry. Brit Med J Nephrol. 2013;14:186.
23. Wolfe RA, Ashby VB, Milford EL, et al. Comparison of mortality in all patients on dialysis, patients on dialysis awaiting transplantation, and recipients of a first cadaveric transplant. N Engl J Med. 1999;341:1725–1730.
24. Orskov B, Romming SV, Feldt-Rasmussen B, et al. Improved prognosis in patients with autosomal dominant polycystic kidney disease in Denmark. Clin J Am Soc Nephrol. 2010;5:2034–2039.
25. Meier-Kriesche HU, Port FK, Ojo AO, et al. Effect of waiting time on renal transplant outcome. Kidney Int. 2000;58:1311–1317.
26. De Rycke M, Georgiou I, Sermon K,et al. PGD for autosomal dominant polycystic kidney disease type 1. Mol Hum Reprod. 2005;11:65–71.
27. Zeevi DA, Renbaum P, Ron-El R, et al. Preimplantation genetic diagnosis in genomic regions with duplications and pseudogenes: long-range PCR in the single-cell assay. Hum Mutat. 2013;34:792–9.