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Up to 27 percent of individuals greater than 50 years of age may have simple renal cysts that cause no symptoms.
Signs and symptoms include high blood pressure, headaches, abdominal pain, blood in the urine, and excessive urination. Other symptoms include pain in the back, and cyst formation (renal and other organs).
Parapelvic cysts originate from around the kidney at the adjacent renal parenchyma, and plunge into the renal sinus. Peripelvic cysts are contained entirely within the renal sinus, possibly related to dilated lymphatic channels. When viewed on CT in absence of contrast, they can mimic hydronephrosis. If symptomatic, they can be laparoscopically decorticated - removal of the outer layer or cortex.
Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the kidney. These cysts may begin to develop before birth or in infancy, in childhood, or in adulthood. Cysts are non-functioning tubules filled with fluid pumped into them, which range in size from microscopic to enormous, crushing adjacent normal tubules and eventually rendering them non-functional also.
PKD is caused by abnormal genes which produce a specific abnormal protein which has an adverse affect on tubule development. PKD is a general term for two types, each having their own pathology and genetic cause: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). The abnormal gene exists in all cells in the body: as a result, cysts may occur in the liver, seminal vesicles, and pancreas. This genetic defect can also cause aortic root aneurysms, and aneurysms in the circle of Willis cerebral arteries, which if they rupture, can cause a subarachnoid hemorrhage.
Diagnosis may be suspected from one, some, or all of the following: new onset flank pain or red urine; a positive family history; palpation of enlarged kidneys on physical exam; an incidental finding on abdominal sonogram; or an incidental finding of abnormal kidney function on routine lab work (BUN, serum creatinine, or eGFR). Definitive diagnosis is made by abdominal CT exam.
Complications include hypertension due to the activation of the renin–angiotensin–aldosterone system (RAAS), frequent cyst infections, urinary bleeding, and declining renal function. Hypertension is treated with angiotensin converting enzyme inhibitors (ACEIs) or angiotensin receptor blockers (ARBs). Infections are treated with antibiotics. Declining renal function is treated with renal replacement therapy (RRT): dialysis and/or transplantation. Management from the time of the suspected or definitive diagnosis is by a board-certified nephrologist.
Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent, potentially lethal, monogenic human disorder. It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes. It is also the most common of the inherited cystic kidney diseases — a group of disorders with related but distinct pathogenesis, characterized by the development of renal cysts and various extrarenal manifestations, which in case of ADPKD include cysts in other organs, such as the liver, seminal vesicles, pancreas, and arachnoid membrane, as well as other abnormalities, such as intracranial aneurysms and dolichoectasias, aortic root dilatation and aneurysms, mitral valve prolapse, and abdominal wall hernias. Over 50% of patients with ADPKD eventually develop end stage kidney disease and require dialysis or kidney transplantation. ADPKD is estimated to affect at least 1 in every 1000 individuals worldwide, making this disease the most common inherited kidney disorder with a diagnosed prevalence of 1:2000 and incidence of 1:3000-1:8000 in a global scale.
Usually, the diagnosis of ADPKD is initially performed by renal imaging using ultrasound, CT scan, or MRI. However, molecular diagnostics can be necessary in the following situations: 1- when a definite diagnosis is required in young individuals, such as a potential living related donor in an affected family with equivocal imaging data; 2- in patients with a negative family history of ADPKD, because of potential phenotypic overlap with several other kidney cystic diseases; 3- in families affected by early-onset polycystic kidney disease, since in this cases hypomorphic alleles and/or oligogenic inheritance can be involved; and 4- in patients requesting genetic counseling, especially in couples wishing a pre-implantation genetic diagnosis.
The findings of large echogenic kidneys without distinct macroscopic cysts in an infant/child at 50% risk for ADPKD are diagnostic. In the absence of a family history of ADPKD, the presence of bilateral renal enlargement and cysts, with or without the presence of hepatic cysts, and the absence of other manifestations suggestive of a different renal cystic disease provide presumptive, but not definite, evidence for the diagnosis. In some cases, intracranial aneurysms can be an associated sign of ADPKD, and screening can be recommended for patients with a family history of intracranial aneurysm.
Molecular genetic testing by linkage analysis or direct mutation screening is clinically available; however, genetic heterogeneity is a significant complication to molecular genetic testing. Sometimes a relatively large number of affected family members need to be tested in order to establish which one of the two possible genes is responsible within each family. The large size and complexity of PKD1 and PKD2 genes, as well as marked allelic heterogeneity, present obstacles to molecular testing by direct DNA analysis. The sensitivity of testing is nearly 100% for all patients with ADPKD who are age 30 years or older and for younger patients with PKD1 mutations; these criteria are only 67% sensitive for patients with PKD2 mutations who are younger than age 30 years.
Alveolar hydatid disease (AHD), also known as alveolar echinococcosis, alveolar colloid of the liver, alveolococcosis, multilocular echinococcosis, and small fox tapeworm is a form of echinococcosis, and is a disease that originates from a parasite. Although alveolar echinococcosis is rarely diagnosed in humans and is not as widespread as cystic echinococcosis, it is also still a serious disease that not only has a significantly high fatality rate but also has the potential to become an emerging disease in many countries.
In the human manifestation of the disease, "E. granulosus", "E. multilocularis", "E. oligarthrus" and "E. vogeli" are localized in the liver (in 75% of cases), the lungs (in 5–15% of cases) and other organs in the body such as the spleen, brain, heart, and kidneys (in 10–20% of cases). In the patients who are infected with "E. granulosus" and therefore have cystic echinococcosis, the disease develops as a slow-growing mass in the body. These slow-growing masses, often called cysts, are also found in patients that are infected with alveolar and polycystic echinococcosis. The cysts found in those with cystic echinococcosis are usually filled with a clear fluid called hydatid fluid, are spherical, and typically consist of one compartment and are usually only found in one area of the body. While the cysts found in those with alveolar and polycystic echinococcosis are similar to those found in those with cystic echinococcosis, the alveolar and polycystic echinococcosis cysts usually have multiple compartments and have infiltrative as opposed to expansive growth.
Depending on the location of the cyst in the body, the patient could be asymptomatic even though the cysts have grown to be very large, or be symptomatic even if the cysts are absolutely tiny. If the patient is symptomatic, the symptoms will depend largely on where the cysts are located. For instance, if the patient has cysts in the lungs and is symptomatic, they will have a cough, shortness of breath and/or pain in the chest. On the other hand, if the patient has cysts in the liver and is symptomatic, they will suffer from abdominal pain, abnormal abdominal tenderness, hepatomegaly with an abdominal mass, jaundice, fever and/or anaphylactic reaction. In addition, if the cysts were to rupture while in the body, whether during surgical extraction of the cysts or by trauma to the body, the patient would most likely go into anaphylactic shock and suffer from high fever, pruritus (itching), edema (swelling) of the lips and eyelids, dyspnea, stridor and rhinorrhea.
Unlike intermediate hosts, definitive hosts are usually not hurt very much by the infection. Sometimes, a lack of certain vitamins and minerals can be caused in the host by the very high demand of the parasite.
The incubation period for all species of "Echinococcus" can be months to years, or even decades. It largely depends on the location of the cyst in the body and how fast the cyst is growing.
The first symptoms typically include fever, intermittent abdominal pain, and hepatomegaly. Occasionally, jaundice occurs.
Morbidity is common and is caused by complications of cholangitis, sepsis, choledocholithiasis, and cholangiocarcinoma. These morbid conditions often prompt the diagnosis. Portal hypertension may be present, resulting in other conditions including splenomegaly, hematemesis, and melena. These problems can severely affect the patient's quality of life. In a 10-year period between 1995 and 2005, only 10 patients were surgically treated for Caroli disease, with an average patient age of 45.8 years.
After reviewing 46 cases of Caroli disease before 1990, 21.7% of the cases were the result of an intraheptic cyst or nonobstructive biliary tree dilation, 34.7% were linked with congenital hepatic fibrosis, 13% were isolated choledochal cystic dilation, and the remaining 24.6% had a combination of all three.
Kidney tumours may be discovered on medical imaging incidentally (i.e. an incidentaloma), or may be present in patients as an abdominal mass or kidney cyst, hematuria, abdominal pain, or manifest first in a paraneoplastic syndrome that seems unrelated to the kidney.
A small cyst that requires magnification to be seen, may be called a microcyst. Similarly, a cyst that is larger than usual or compared to others, may be called a macrocyst.
Due to its classification, a dermoid cyst can occur wherever a teratoma can occur.
Caroli disease (communicating cavernous ectasia, or congenital cystic dilatation of the intrahepatic biliary tree) is a rare inherited disorder characterized by cystic dilatation (or ectasia) of the bile ducts within the liver. There are two patterns of Caroli disease: focal or simple Caroli disease consists of abnormally widened bile ducts affecting an isolated portion of liver. The second form is more diffuse, and when associated with portal hypertension and congenital hepatic fibrosis, is often referred to as "Caroli syndrome." The underlying differences between the two types are not well understood. Caroli disease is also associated with liver failure and polycystic kidney disease. The disease affects about one in 1,000,000 people, with more reported cases of Caroli syndrome than of Caroli disease.
Caroli disease is distinct from other diseases that cause ductal dilatation caused by obstruction, in that it is not one of the many choledochal cyst derivatives.
Echinococcosis is a parasitic disease of tapeworms of the "Echinococcus" type. The two main types of the disease are "cystic echinococcosis" and "alveolar echinococcosis". Less common forms include "polycystic echinococcosis" and "unicystic echinococcosis". The disease often starts without symptoms and this may last for years. The symptoms and signs that occur depend on the cyst's location and size. Alveolar disease usually begins in the liver but can spread to other parts of the body, such as the lungs or brain. When the liver is affected the person may have abdominal pain, weight loss, and turn slightly yellow from jaundice. Lung disease may cause pain in the chest, shortness of breath and coughing.
The disease is spread when food or water that contains the eggs of the parasite is eaten or by close contact with an infected animal. The eggs are released in the stool of meat-eating animals that are infected by the parasite. Commonly infected animals include dogs, foxes and wolves. For these animals to become infected they must eat the organs of an animal that contains the cysts such as sheep or rodents. The type of disease that occurs in people depends on the type of "Echinococcus" causing the infection. Diagnosis is usually by ultrasound though computer tomography (CT) or magnetic resonance imaging (MRI) may also be used. Blood tests looking for antibodies against the parasite may be helpful as may biopsy.
Prevention of cystic disease is by treating dogs that may carry the disease and vaccination of sheep. Treatment is often difficult. The cystic disease may be drained through the skin, followed by medication. Sometimes this type of disease is just watched. The alveolar type often needs surgery followed by medications. The medication used is albendazole, which may be needed for years. The alveolar disease may result in death.
The disease occurs in most areas of the world and currently affects about one million people. In some areas of South America, Africa, and Asia up to 10% of the certain populations are affected. In 2015, the cystic form caused about 1200 deaths down from 2000 in 1990. The economic cost of the disease is estimated to be around 3 billion USD a year. It is classified as a neglected tropical disease and belongs to the group of diseases known as helminthiasis (worm infections). It can affect other animals such as pigs, cows and horses.
A cyst is a closed sac, having a distinct membrane and division compared with the nearby tissue. Hence, it is a cluster of cells that has grouped together to form a sac (not unlike the manner in which water molecules group together, forming a bubble); however, the distinguishing aspect of a cyst is that the cells forming the "shell" of such a sac are distinctly abnormal (in both appearance and behaviour) when compared with all surrounding cells for that given location. It may contain air, fluids, or semi-solid material. A collection of pus is called an abscess, not a cyst. Once formed, sometimes a cyst may resolve on its own. When a cyst fails to resolve, it may need to be removed surgically, but that would depend upon its type and location.
Cancer-related cysts are formed as a defense mechanism for the body, following the development of mutations that lead to an uncontrolled cellular division. Once that mutation has occurred, the affected cells divide incessantly (and become known as cancerous), forming a tumour. The body encapsulates those cells to try to prevent them from continuing their division and to try to contain the tumour, which becomes known as a cyst. That said, the cancerous cells still may mutate further and gain the ability to form their own blood vessels, from which they received nourishment before being contained. Once that happens, the capsule becomes useless and the tumour may advance from benign to a cancer.
Some cysts are neoplastic and thus, are called cystic tumors; many types are not neoplastic. Some are dysplastic or metaplastic. Pseudocysts are similar to cysts (having a sac filled with fluid), but lack an epithelial lining.
Theca lutein cyst is a type of bilateral functional ovarian cyst filled with clear, straw-colored fluid. To be classified a functional cyst, the mass must reach a diameter of at least three centimeters.
These cysts result from exaggerated physiological stimulation (hyperreactio luteinalis) and are usually associated with markedly elevated levels of beta-human chorionic gonadotropin (beta-hCG). They are thus associated with gestational trophoblastic disease (molar pregnancy), diabetes mellitus, alloimmunisation to Rh-D, and multiple gestations. They have rarely been associated with chronic kidney disease (secondary to reduced hCG clearance) and hyperthyroidism (given the structural homology with TSH). These cysts resolve after pregnancy. Rarely, when the theca-lutein cysts are stimulated by gonadotropins, massive ascites can result. In most cases however, abdominal symptoms are minimal and restricted to peritoneal irritation from cyst hemorrhage. Surgical intervention may be required to remove ruptured or infarcted tissue.
Women who smoke have a twofold increase for functional cysts.
A dermoid cyst is a teratoma of a cystic nature that contains an array of developmentally mature, solid tissues. It frequently consists of skin, hair follicles, and sweat glands, while other commonly found components include clumps of long hair, pockets of sebum, blood, fat, bone, nails, teeth, eyes, cartilage, and thyroid tissue.
As dermoid cysts grow slowly and contain mature tissue, this type of cystic teratoma is nearly always benign. In those rare cases wherein the dermoid cyst is malignant, a squamous cell carcinoma usually develops in adults, while infants and children usually present with an endodermal sinus tumor.
Thyroglossal duct cysts most often present with a palpable asymptomatic midline neck mass above the level of the hyoid bone. The mass on the neck moves during swallowing or on protrusion of the tongue because of its attachment to the tongue via the tract of thyroid descent. Some patients will have neck or throat pain, or dysphagia.
The persistent duct or sinus can promote oral secretions, which may cause cysts to become infected. Up to half of thyroglossal cysts are not diagnosed until adult life. The tract can lie dormant for years or even decades, until some kind of stimulus leads to cystic dilation. Infection can sometimes cause the transient appearance of a mass or enlargement of the cyst, at times with periodic recurrences. Spontaneous drainage may also occur. Differential diagnosis are ectopic thyroid, enlarged lymph nodes, dermoid cysts and goiter.
Thyroglossal cyst usually presents as a midline neck lump (in the region of the hyoid bone) that is usually painless, smooth and cystic, though if infected, pain can occur. There may be difficulty breathing, dysphagia (difficulty swallowing), or dyspepsia (discomfort in the upper abdomen), especially if the cyst becomes large.
The most common location for a thyroglossal cyst is midline or slightly off midline, between the isthmus of the thyroid and the hyoid bone or just above the hyoid bone. A thyroglossal cyst can develop anywhere along a thyroglossal duct, though cysts within the tongue or in the floor of the mouth are rare.A thyroglossal cyst will move upwards with protrusion of the tongue.Thyroglossal cysts are associated with an increased incidence of ectopic thyroid tissue. Occasionally, a lingual thyroid can be seen as a flattened strawberry-like lump at the base of the tongue.
A central nervous system cyst is a type of cyst that presents and affects part of the central nervous system (CNS). They are usually benign and filled with either cerebrospinal fluid, blood, or tumor cells. CNS cysts are classified into two categories: cysts that originate from non-central nervous system tissue, migrate to, and form on a portion of the CNS, and cysts that originate within central nervous system tissue itself. Within these two categories, there are many types of CNS cysts that have been identified from previous studies.
Kidney tumours (or kidney tumors), also known as renal tumours, are tumours, or growths, on or in the kidney. These growths can be benign or malignant (kidney cancer).
Symptoms are assessed on a case by case basis. Some cysts in the CNS can be asymptomatic (producing or showing no symptoms), depending on their location in the brain or spinal cord. If the cysts develop in critical areas of the central nervous system, they can present one or more of the following symptoms:
- Pressure in the spinal cord or brain
- Rupture of nerves around the cyst
- Weakness in specific parts of the body controlled by the cyst-infected brain region
- Inflammation
- Hydrocephalus
- Brainstem hemorrhage
- Seizures
- Visual disturbances and hearing Loss
- Headache
- Difficulty with balance or walking
In general, symptoms vary depending on the type of cyst and its location within the CNS.
An infected thyroglossal duct cyst can occur when it is left untreated for a certain amount of time or simply when a thyroglossal duct cyst hasn't been suspected. The degree of infection can be examined as major rim enhancement has occurred, located inferior to the hyoid bone. Soft tissue swelling occurs, along with airway obstruction and trouble swallowing, due to the rapid enlargement of the cyst.
With infections, there can be rare cases where an expression of fluid is projected into the pharynx causing other problems within the neck.
Cystic nephromas are often asymptomatic. They are typically discovered on medical imaging incidentally (i.e. an incidentaloma).
The scalp, ears, back, face, and upper arm, are common sites of sebaceous cysts, though they may occur anywhere on the body except the palms of the hands and soles of the feet. In males a common place for them to develop is the scrotum and chest. They are more common in hairier areas, where in cases of long duration they could result in hair loss on the skin surface immediately above the cyst. They are smooth to the touch, vary in size, and are generally round in shape.
They are generally mobile masses that can consist of:
- Fibrous tissues and fluids,
- A fatty (keratinous) substance that resembles cottage cheese, in which case the cyst may be called "keratin cyst". This material has a characteristic "cheesy" or foot odor smell,
- A somewhat viscous, serosanguineous fluid (containing purulent and bloody material).
The nature of the contents of a sebaceous cyst, and of its surrounding capsule, differs depending on whether the cyst has ever been infected.
With surgery, a cyst can usually be excised in its entirety. Poor surgical technique, or previous infection leading to scarring and tethering of the cyst to the surrounding tissue, may lead to rupture during excision and removal. A completely removed cyst will not recur, though if the patient has a predisposition to cyst formation, further cysts may develop in the same general area.
A cyst of Montgomery is a benign breast mass, usually found in adolescent girls. Typically, it resolves spontaneously by itself.