Medullary cystic kidney disease type 1 is a condition called cystic kidney disease. The disease is hereditary and is inherited in an autosomal dominant manner. Without treatment, the disease is fatal at an average age of 62 years.
What is medullary cystic kidney disease type 1?
Medullary cystic kidney disease type 1 (ADMCKD1) belongs to a disease complex that is characterized by the formation of a cystic kidney. Thus, cystic kidneys do not represent a uniform disease. They can be both hereditary and acquired. Medullary cystic kidney disease type 1 is a hereditary disease that is inherited in an autosomal dominant manner. Medullary cystic kidney disease type 2 is also an autosomal dominant inherited kidney disease with similar symptoms. There is also an autosomal recessive form of cystic kidney disease. These are different diseases with the same symptoms. Because of the similar symptoms, hereditary cystic kidney was considered a uniform disease until recently. The only difference is the time of onset of the first symptoms in each disease. The two autosomal dominant forms of medullary cystic kidney disease are also known as ADMCKD1 or ADMCKD2. They are very rare disorders. Overall, both autosomal dominant forms of the disease affect about five million people worldwide. The prevalence is about 1 to 9 per 100,000 people.
Causes
As mentioned earlier, medullary cystic kidney disease type 1 is a hereditary disease. However, unlike medullary cystic kidney disease type 2, the gene has not yet been precisely located. However, it is located on chromosome 1. A malfunction of the gene products polycystin-1 and polycystin-2 is suspected as the cause for the formation of cystic kidney disease. The interaction between the two compounds is crucial for the formation of the kidney structure. However, the exact mechanism is not yet known. The autosomal dominant forms of the disease show a very slow disease progression. In medullary cystic kidney disease type 1, the formation of symptoms begins in the second or third decade of life. Complete renal failure occurs at an average age of 62 years.
Symptoms, complaints, and signs
As with all cystic kidneys, medullary cystic kidney disease type 1 begins with bloody urine, high blood pressure, abdominal pain, enlargement of the abdominal girth, and urinary tract infections. Blood pressure rises because when renal vessels are displaced by the cysts distally, blood pressure drops. In this process, the hormone renin is secreted, which causes the blood pressure to rise again. The first symptoms of the disease begin in the second or third decade of life. However, there are also patients who remain asymptomatic until definitive kidney failure. There is often chronic pain caused by pressure from the growing cysts on surrounding nerves. Bleeding is caused by ruptures in the cysts. However, the bleeding is not dangerous and disappears on its own. As the cysts become a collection point for urine, germs have excellent opportunities to multiply. This results in the many urinary tract infections. The kidneys become larger and larger during the disease process and can eventually weigh several kilograms because more and more fluid accumulates in the cysts. Healthy kidneys usually weigh 160 grams. The weight of cystic kidneys can increase to eight kilograms. Increased amounts of proteins are also excreted in the urine. Determination of the proteins in the urine contributes to the diagnosis of the disease. Since the cysts also obstruct urine flow, kidney stones can occur in 20 to 30 percent of cases. Exactly which processes eventually lead to complete kidney failure is not yet known.
Diagnosis and course of the disease
Ultrasound examinations are suitable for diagnosing medullary cystic kidney disease. In the course of these examinations, cysts as small as five millimeters can be detected. Thus, it is possible to diagnose a cystic kidney at a fairly early stage when symptoms begin to appear, with a 90 percent rate. A biopsy of kidney tissue should help to determine the type.Often, however, no decisions can be made here, so that the history of the disease within the family can help. If a certain type of the disease has already occurred in the family or relatives, it can be assumed with a high degree of probability that it is the same kidney disease. A molecular genetic examination can also provide information. However, this is difficult with the PKD1 gene. It is not possible to infer the type of medullary cystic kidney disease from the symptoms of the disease. Not all cystic kidney diseases are hereditary. In some cases, cystic kidneys may also develop as a result of other underlying diseases. Differential diagnostic testing must be performed to differentiate these cases.
Complications
This condition must be treated by a physician in all cases. Without treatment, this usually results in the death of the patient. Those affected suffer primarily from bloody urine. This not infrequently leads to sweating or to a panic attack. Furthermore, it is not uncommon for infections of the urinary tract to occur, which can lead to burning pain when urinating. The quality of life of the affected person is significantly reduced due to the disease. Likewise it comes to a high blood pressure, which can lead to a heart attack. It is also not uncommon for pain to occur in the stomach and abdomen. In the worst case, those affected can also suffer complete kidney failure and die from it. In this case, those affected are ultimately dependent on dialysis or a kidney transplant. The kidney gets bigger and bigger and not infrequently leads to pain. Treatment of this disease can usually only be symptomatic and reduce the pain. Furthermore, however, a transplantation or dialysis is always necessary. Life expectancy is significantly reduced and limited by this disease.
When should one go to the doctor?
If a family member has already been diagnosed with a genetic kidney disease, a comprehensive genetic test should be performed immediately after the child’s birth. Since the disease leads to premature death if left untreated, timely diagnosis is recommended. In this way, a treatment plan can be drawn up in the early stages and always adapted to the current needs of the organism. Alternatively, a visit to the doctor is necessary as soon as blood appears in the urine. If this is not caused by a one-time physical overload of the organism or if it occurs repeatedly, a doctor should be consulted. In case of high blood pressure, pain in the upper part of the body or unusual swelling, a doctor should be consulted. If there is a deformity in the area of the upper abdomen, there is cause for concern. A visit to the doctor is necessary so that an investigation into the cause can be initiated. In many cases, the first health problems occur in the third or fourth decade of life. Therefore, people in adulthood are generally advised to attend the regular check-ups offered by a doctor. Changes or abnormalities in urination, peculiarities in odor, or a reduced amount of urine indicate discrepancies that need to be clarified. A chronic pain experience, sleep disturbances or a decrease in physical performance are other signs that should be medically investigated.
Treatment and therapy
There is no causative therapy for medullary cystic kidney disease type 1, as there is for all other hereditary cystic kidneys. Initially, only symptomatic treatments can be given. These include treatment of urinary tract infections as well as high blood pressure. Pain can be alleviated by puncturing filled cysts because this relieves pressure on adjacent nerves. However, sustained treatment can only be achieved by dialysis or, in the case of complete kidney failure, by kidney transplantation.
Outlook and prognosis
Genetic medullary cystic kidney disease type 1 is a severe and fatal disease of the kidneys. It usually occurs in the third half of life. Within a few years, complete kidney failure is expected in this rare disease. On average, this is the case in the first years of life around the age of sixty.The prognosis is also poor because of the many consequences of medullary cystic kidney disease type 1. Oddly enough, blond and red-haired people are more likely to be affected by medullary cystic kidney disease type 1 than dark-haired people. So for these people, the prognosis is worse on average because the disease is more common. The problem is that there are no therapeutic approaches yet. The symptoms and accompanying symptoms of medullary cystic kidney disease type 1 can only be alleviated. In the final stage, those affected can only be helped by dialysis or a kidney transplant. If a suitable transplant is available, the chances of a cure are quite good. However, dialysis can only bridge a certain period of time. The functional life of a transplant is also limited. If no suitable kidney transplant can be found, this is as good as a death sentence. It is possible that in later decades gene therapy may provide relief or a cure for those affected. But there is still a long way to go before that happens.
Prevention
Medullary cystic kidney disease type 1 is a hereditary disease. Therefore, there can be no recommendations for its prevention. If there are previous cases of medullary cystic kidney disease in the family, human genetic counseling can be sought if children are desired to clarify the risk of recurrence.
Follow-up
Crucial to the cure of medullary cystic kidney disease type 1 is transplantation of the new kidneys. This must be treated by a physician who specializes in this procedure. Following this operation, the weakened body must be gradually and carefully strengthened again. In the beginning, however, strict sparing is recommended to allow the surgical wounds to heal. The transplantation makes regular visits to the doctor necessary in order to clarify whether the recovery process is proceeding as expected and to recognize any complications that may arise in good time. Since follow-up treatment is relatively complex and lengthy, aftercare focuses on good management of the disease. Patients should try to focus on a positive healing process despite the adversities. To build the appropriate mindset, relaxation exercises and meditation can help calm and focus the mind. If psychological upsets occur and persist for a longer period of time, it may be advisable to consult a psychologist and clarify this. Sometimes an accompanying therapy can help to build up a positive attitude.
What you can do yourself
If medullary cystic kidney disease type 1 has been diagnosed, medical treatment is needed. Some self-help measures and remedies from the household and nature support the healing process. It is important to treat the symptoms first. A urinary tract infection can be alleviated by warmth and rest, accompanying antibiotic therapy. In addition, care should be taken to maintain adequate hygiene in the intimate area to prevent the infection from spreading. In the case of an acute infection, irritating care products such as cleansing soaps or deodorants should be avoided. Natural remedies without artificial additives are more suitable. A change in diet is the main way to combat high blood pressure. In addition, a lot of sport should be done and stimulants such as alcohol, cigarettes or caffeine should be avoided. Overweight people should take measures to reduce their weight. In the case of severe high blood pressure, treatment with medication is advisable. The responsible physician should monitor the above measures and support them by administering medications. Medullary cystic kidney disease type 1 can usually be treated well, provided that the underlying condition is detected early. However, long-term treatment success can only be achieved through a permanent change in lifestyle.
