As autosomal dominant polycystic kidney disease (or ADPKD according to AbbreviationFinder), a hereditary disease is referred to concerning the kidneys. This leads to the formation of cyst kidneys.
What is Autosomal Dominant Polycystic Kidney Disease?
Polycystic kidney disease 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 a medical treatmentis not necessary. However, if multiple cysts form in a kidney, it is referred to as a cyst kidney or polycystic kidney.
A common type of cyst kidney is autosomal dominant polycystic kidney disease (ADPKD), which is a common hereditary disease. In old age, the cyst kidney has a negative effect on kidney functions.
For this reason, dialysis or even a kidney transplant is usually required. The frequency of autosomal dominant polycystic kidney disease is between 1: 400 and 1: 12,000. Around 5 million people worldwide have ADPKD.
Causes
The term “autosomal” means “gender-independent”. Every 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. An autosomal inheritance takes place in the genes that are located on the autosomes.
A dominant hereditary disease is when one of the genes that humans inherit from their mother and father changes. A recessive disease, on the other hand, only occurs when there are changes in both genes.
There are three possible triggers for autosomal dominant polycystic kidney disease. The ADPKD gene 1 is found on chromosome 16 in 80 percent of all affected people. 15 percent of all patients suffer from the ADPKD gene 2 on chromosome 4. The gene cannot be precisely assigned to the remaining five percent.
Doctors assume that there is a high number of unreported cases of autosomal dominant polycystic kidney disease, making it the most common life-threatening hereditary disease. If one of the parents has ADPKD, the child’s risk of developing it is 50 percent.
Symptoms, ailments & signs
If an ADPKD gene is present, sooner or later this leads to the onset of autosomal dominant polycystic kidney disease. In most cases, it shows up between the ages of 20 and 40. However, symptoms only arise when there are so many cysts in the kidneys that they have a negative effect on organ function.
The extent of the symptoms can vary with ADPKD. About 60 to 70 percent of all patients develop high blood pressure. The reason for this is that pressure is exerted on the kidney vessels by the cysts. Because blood pressure drops as a result, 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. Typical are pain radiating to the groin, flanks and back.
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. The cysts interfere with the outflow of urine, which means that crystals form more quickly.
Women also often suffer from urinary tract infections because harmful bacteria can build up in the cysts. About every second ADPKD patient also has blood in the urine, the amount of which varies from person to person.
Diagnosis & course
If a cyst kidney is suspected, the doctor will examine the urine. Red blood cells and protein in the urine are conspicuous findings. In addition, the urine concentration is lower than normal.
Another indication is the deteriorating function of the kidneys, which is noticeable by measuring different kidney values. The safest diagnostic method is sonography (ultrasound examination), with which an autosomal dominant polycystic kidney disease can be detected. Imaging procedures such as computed tomography (CT) or magnetic resonance tomography (MRT) are rarely required.
The course of autosomal dominant polycystic kidney disease progresses slowly so that there are no kidney restrictions in the early stages. However, year after year there is a decrease in kidney volume, eventually leading to ultimate kidney failure at a later age. In women, this is the case 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). Failure will initially lead to increased urine excretion (polyuria).
However, this quickly dries up again and there is a reduced excretion of urine (oliguria). As a result, poisonous substances that are subject to urine are no longer adequately excreted. This includes, for example, the nerve toxin ammonia. This greatly increases the concentration and thus the likelihood that the ammonia will spread in the brain and trigger encephalopathy there.
This leads to abnormal sensations, cramps and paralysis, but also to headaches. In addition, the toxins can poison the blood (uremia), which can end in a life-threatening coma. In the worst cases, this has to be treated with dialysis or even a kidney transplant.
Furthermore, the fact that not enough fluid is excreted increases the risk of edema, which can be very painful and large. In addition, not enough acids are excreted, so that the blood becomes acidic.
This results in hyperkalaemia, i.e. an increase in the potassium concentration, which can sometimes also trigger cardiac arrhythmias. The kidneys also no longer excrete enough potassium ions, which also favors the development of cardiac arrhythmias.
When should you go to the doctor?
In most cases, autosomal dominant polycystic kidney disease definitely needs to be treated by a doctor. The symptoms of this disease occur in most cases in adulthood and lead to high blood pressure. In addition to high blood pressure, there is also permanent pain in the kidneys.
Should these symptoms arise, the autosomal dominant polycystic kidney disease must be examined by a doctor. Pain in the back, groin and flanks can also indicate this condition and should be examined by a doctor.
In addition, those affected also suffer from kidney stones and thus not infrequently from very severe and stabbing pain, which can occur especially when urinating. Bloody urine can also be a sign of autosomal dominant polycystic kidney disease and should be examined by a doctor.
Usually, autosomal dominant polycystic kidney disease is treated and diagnosed by a urologist. In acute emergencies or in very severe pain, however, an ambulance should be called or the hospital should be visited directly in order to avoid further complications.
Treatment & Therapy
The cause of the autosomal dominant polycystic kidney disease cannot be treated, so that only symptomatic therapy can be given. Most patients have their blood pressure checked regularly. For example, high blood pressure has a negative effect on the kidneys.
If necessary, the patient is given antihypertensive drugs. Renouncing tobacco, eating a healthy diet and getting enough exercise also have a positive effect on kidney function. Painkillers are given to treat kidney pain. Large cysts may require a puncture to drain the fluid.
Dialysis (blood washing) must be carried out in the event of permanent kidney failure. In some cases, a kidney transplant is required. In order to be able to treat ADPKD effectively, a coordinated collaboration of several specialists is necessary.
Outlook & forecast
The prognosis for autosomal dominant polycystic kidney disease is poor. 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. In the case of hereditary diseases, it is therefore important to find alternative options for good treatment. These are intended to improve the health of the patient and increase well-being.
As the disease progresses, it leads to kidney failure. Without medical care, the patient dies due to organ failure. In the case of an organ failure, the person concerned has a few minutes until the result is fatal. With treatment, the chances of recovery are significantly improved.
As soon as the disease is very advanced, dialysis takes place. With this treatment, the patient is able to continue to live. This therapy method is connected with many challenges and impairments in the life of the patient at the same time.
In addition to the physical illness, there are often mental disorders that have a negative effect on the overall prognosis. For a better quality of life, the sick person needs a new kidney. Ultimately, only a successful kidney transplant can ensure patient survival. The transplant is associated with numerous risks and side effects, but allows one to survive.
Prevention
There are no known preventive measures against autosomal dominant polycystic kidney disease. ADPKD is already innate.
Aftercare
In most cases, the measures or options for follow-up care are severely limited. As a rule, the person affected depends on an early diagnosis and detection of the disease so that it can be treated correctly and there are no further complications. For this reason, early detection is in the foreground with this disease.
Self-healing cannot occur here either. In the worst case, the person affected will die of this disease if treatment is not received in good time. In the treatment of this disease, the person concerned is dependent on regular visits and checks with a doctor. The liquid is drained off in the process. These controls should be followed by the patient.
In severe cases, however, dialysis is also necessary. Many of those affected also need help and support from their own family and friends. This can also alleviate psychological complaints or moods, whereby a professional psychologist can also be consulted. In many cases, this disease reduces the life expectancy of those affected. It cannot be universally predicted whether there will be a complete healing.
You can do that yourself
Patients with autosomal dominant polycystic kidney disease cannot themselves help treat the underlying disease. If the disorder is widespread in the family, a preventive medical check-up is recommended to discover the disease as early as possible. With the aid of ultrasound can be determined whether organ cysts formed in the kidneys, liver, pancreas, or spleen.
An autosomal dominant polycystic kidney disease is often associated with acute inflammation of the bladder and urethra, especially in women, as the pathogens can collect on the cysts and multiply well. In these cases, the same self-help measures that also apply to urinary tract infections induced differently can help. Affected patients should drink as much as possible in order to rinse out the pathogens promptly.
Still mineral water, unsweetened herbal tea or special bubble tea from the pharmacy are particularly recommended. In addition, cold feet, 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 without a prescription as juice, drops, or in tablet form.
