Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary disease that affects the kidneys. It results in the formation of cystic kidneys.
What is autosomal dominant polycystic kidney disease?
Cystic kidneys are also known as polycystic kidneys. These are mostly serious kidney diseases in which a large number of cysts form. Cysts are cavities that contain fluid. A single cyst is usually not a health problem, so medical treatment is not necessary. However, if several cysts form in one kidney, it is called a cystic kidney or polycystic kidney. A common form of cystic kidney is autosomal dominant polycystic kidney disease (ADPKD), which is a common hereditary disease. In older age, the cystic kidney has a negative effect on kidney functions. For this reason, dialysis or even kidney transplantation is usually required. The incidence of autosomal dominant polycystic kidney disease is between 1:400 and 1:12,000, and approximately 5 million people worldwide suffer from ADPKD.
Causes
The term “autosomal” means “sex-independent.” Each person has 46 chromosomes, or 23 pairs of chromosomes, in which the genetic information is located. In addition to the paired sex chromosomes X and Y, there are 22 autosomes. For the genes located on the autosomes, autosomal inheritance takes place. A dominant hereditary disease is said to occur when one of the genes that a person inherits from his mother and father is altered. A recessive disease, on the other hand, occurs only when changes occur in both genes. Three genes are possible triggers of autosomal dominant polycystic kidney disease. In 80 percent of all affected individuals, ADPKD gene 1 is present on chromosome 16. 15 percent of all patients suffer from ADPKD gene 2 on chromosome 4. In the remaining five percent, the gene cannot be precisely assigned. Doctors assume that the number of unreported cases of autosomal-dominant polycystic kidney disease is high, making it the most common life-threatening hereditary disease. If one parent has ADPKD, the child’s risk of also developing the disease is 50 percent.
Symptoms, complaints, and signs
If an ADPKD gene is present, it will sooner or later lead to the onset of autosomal dominant polycystic kidney disease. In most cases, it manifests between the ages of 20 and 40. However, symptoms only occur when there are so many cysts in the kidneys that they have a negative effect on organ function. The extent of symptoms can vary in ADPKD. About 60 to 70 percent of all patients experience high blood pressure. The reason for this is that the cysts put pressure on the kidney vessels. Because this causes a drop in blood pressure, the affected kidney secretes the hormone-like enzyme renin in response, which in turn leads to an increase in blood pressure. It is not uncommon for those affected to suffer from chronic pain when the nerves are affected by the cysts. Pain radiating to the groin, flanks and back is typical. Another characteristic feature of autosomal dominant polycystic kidney disease is the formation of kidney stones. These occur in 20 to 30 percent of all patients. Thus, the cysts disrupt the outflow of urine, causing crystals to form more rapidly. Women also frequently suffer from urinary tract infections because harmful bacteria can accumulate in the cysts. In about one in two ADPKD patients, there is also blood in the urine, the amount of which varies from individual to individual.
Diagnosis and progression
If cystic kidney disease is suspected, the physician performs an examination of the urine. Abnormal findings include red blood cells and protein in the urine. In addition, the urine concentration is lower than normal. A further indication is provided by the deteriorating function of the kidneys, which can be seen by measuring different kidney values. The most reliable diagnostic method is sonography (ultrasound examination), which can detect autosomal dominant polycystic kidney disease.Imaging procedures such as computed tomography (CT) or magnetic resonance imaging (MRI), on the other hand, are rarely needed. The course of autosomal dominant polycystic kidney disease progresses slowly, so that in the early stages there are still no restrictions on the kidneys. Year by year, however, the kidney volume decreases, eventually leading to definitive kidney failure at a later age. In women, this occurs on average six years later than in men.
Complications
Autosomal dominant polycystic kidney disease can lead to many different complications. In general, autosomal dominant polycystic kidney disease can result in kidney failure (renal insufficiency). When failure occurs, there is initially increased excretion of urine (polyuria). However, this quickly dries up again and there is decreased excretion of urine (oliguria). As a result, urinary toxic substances are no longer sufficiently excreted. These include, for example, the neurotoxin ammonia. The concentration is thus greatly increased, and with it the likelihood that the ammonia will spread to the brain and trigger an encephalopathy. This leads to sensory disturbances, cramps and paralysis, as well as headaches. In addition, the toxins can lead to poisoning of the blood (uremia), which can end in a life-threatening coma. In the worst cases, this must be treated with dialysis or even a kidney transplant. Furthermore, not excreting enough fluid increases the risk of edema, which can be very painful and large. In addition, not enough acids are excreted anymore, so that the blood overacidifies. This results in hyperkalemia, an increase in potassium concentration, which can sometimes trigger cardiac arrhythmias. Also, insufficient potassium ions are excreted by the kidney, which also promotes the development of cardiac arrhythmias.
When should you see a doctor?
In most cases, autosomal dominant polycystic kidney disease definitely needs to be treated by a doctor. In most cases, the symptoms of this disease occur in adulthood and lead to high blood pressure. Furthermore, in addition to the high blood pressure, there is also permanent pain in the kidneys. Therefore, if these complaints occur, autosomal dominant polycystic kidney disease must be examined by a doctor. Furthermore, pain in the back, groin and flanks may also be indicative of this disease and should be examined by a physician. In addition, those affected also suffer from kidney stones and thus not infrequently from very severe and stabbing pain, which can occur especially during urination. Bloody urine may also be a sign of autosomal dominant polycystic kidney disease and should be examined by a physician. Usually, autosomal dominant polycystic kidney disease is treated and diagnosed by a urologist. However, in acute emergencies or if the pain is very severe, an ambulance should be called or the hospital should be visited directly to avoid further complications.
Treatment and therapy
The cause of autosomal dominant polycystic kidney disease cannot be treated, so only symptomatic therapy can be given. Most patients have regular monitoring of blood pressure. Thus, too high blood pressure has a negative effect on the kidneys. If necessary, the patient is given antihypertensive drugs. Avoiding tobacco, eating a healthy diet and getting enough exercise also have a positive effect on kidney function. Painkillers are administered to treat pain in the kidney area. In the case of large cysts, a puncture may be necessary to drain the fluid. If permanent kidney failure occurs, dialysis (blood washing) must be performed. In some cases, a kidney transplant is needed. To effectively treat ADPKD, coordinated collaboration among multiple specialists is needed.
Outlook and prognosis
The prognosis for autosomal dominant polycystic kidney disease is unfavorable. It has a progressive course that cannot be stopped or adequately treated with current medical options. For legal reasons, interventions in human genetics are not permitted.Therefore, in the case of the hereditary disease, the aim is to find alternative options for good treatment. These are intended to improve the patient’s health and increase well-being. As the disease progresses, it leads to kidney failure. Without medical care, the organ failure causes the patient to die. With organ failure, the affected person has a few minutes before death results. With treatment, the prospects for recovery are greatly improved. As soon as the disease is very advanced, dialysis is performed. This treatment enables the patient to continue living. At the same time, this therapy method is associated with a great many challenges and impairments in the patient’s life. In addition to the physical illness, there are often psychological disorders that have a negative impact on the overall prognosis. For a better quality of life, the patient needs a new kidney. Ultimately, only a successful kidney transplant can ensure the patient’s survival. Transplantation is associated with numerous risks and side effects, but it allows the patient to continue living.
Prevention
Preventive measures against autosomal dominant polycystic kidney disease are not known. For example, ADPKD is already congenital.
Follow-up
In most cases, the measures or options for aftercare are severely limited in this disease. Usually, the affected person first depends on early diagnosis and detection of the disease so that it can be treated properly and also to avoid further complications. For this reason, the early detection of this disease is in the foreground. In this case, it is also not possible for the disease to heal itself. In the worst case, the affected person will die from this disease if it is not treated in time. In the treatment of this disease, the affected person is dependent on regular visits and check-ups with a doctor. This involves draining the fluid. These checks should be followed by the patient. In severe cases, however, dialysis is also necessary. Many patients also need the help and support of their own family and friends. This can also alleviate psychological discomfort or upset, and a professional psychologist can also be consulted. In many cases, this disease reduces the life expectancy of the affected person. It cannot be universally predicted whether a complete cure can occur in this case.
Here’s what you can do yourself
Patients who have autosomal dominant polycystic kidney disease cannot help treat the underlying disease themselves. If the disorder runs in the family, screening is recommended to detect the disease as early as possible. Sonography can be used to determine whether organ cysts have formed in the kidneys, liver, pancreas or spleen. Autosomal dominant polycystic kidney disease is often accompanied by acute inflammation of the bladder and urethra, especially in women, because the pathogens can collect at the cysts and multiply well. In these cases, the same self-help measures that are effective for urinary tract infections induced in other ways also help. Affected patients should drink as much as possible to flush out the pathogens promptly. Still mineral water, unsweetened herbal tea or special bladder tea from the pharmacy are particularly recommended. In addition, cold feet, too tight clothing at low temperatures and sitting on cold surfaces should be avoided. In naturopathy, preparations based on pumpkin and cranberry are used against frequently recurring urinary tract infections. These remedies are available over the counter as juice, drops or in tablet form.
