Diseases

Medullary cystic kidney disease type 1 – causes, symptoms & treatment

Medullary cystic kidney disease type 1

Medullary cystic kidney disease type 1 is a so-called cystic kidney. The disease is hereditary and is inherited in an autosomal dominant manner. Without treatment, the disease is fatal on average at the age of 62 years.

What is medullary cystic kidney disease type 1?

Medullary cystic kidney disease type 1 (ADMCKD1) belongs to a disease complex characterized by the formation of a cystic kidney. Cystic kidneys are therefore not 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 dominantly hereditary kidney disease with similar symptoms. There is also an autosomal recessive hereditary form of the cyst kidney.

These are different diseases with the same symptoms. Due to the same symptoms, hereditary cystic kidney was considered a uniform disease until recently. Only the time of onset of the first symptoms in the individual diseases is different.

The two autosomal dominant forms of medullary cystic kidney disease are also referred to as ADMCKD1 or ADMCKD2. These are very rare diseases. In total, about five million people worldwide are affected by both autosomal dominant forms of the disease. Prevalence is around 1 to 9 per 100,000 people.

Causes

As already mentioned, medullary cystic kidney disease type 1 is a hereditary disease. In contrast to medullary cystic kidney disease type 2, however, the gene could not yet be precisely located. However, it is located on chromosome 1.The cause of the formation of the cystic kidney is suspected to be a malfunction of the gene products polycystin-1 and polycystin-2. 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 course of the disease. In medullary cystic kidney disease type 1, the development of symptoms begins in the second or third decade of life. Complete renal failure occurs on average at the age of 62 years.

Symptoms, complaints & signs

As with all cystic kidneys, medullary cystic kidney disease type 1 begins with bloody urine, high blood pressurepain in the abdomen, enlargement of the abdominal circumference and urinary tract infections. Blood pressure rises because when kidney vessels are displaced by the cysts, blood pressure drops distally.

The hormone renin is released, which causes 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 final kidney failure. Often there is chronic pain, which is triggered by the pressure of the growing cysts on surrounding nerves.

The bleeding is caused by cracks in the cysts. However, the bleeding is not dangerous and disappears on its own. Since 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 in the course of the disease process and can eventually weigh a few kilograms, because more and more fluid accumulates in the cysts.

Healthy kidneys usually weigh 160 grams. The weight of cystic kidneys can grow up to eight kilograms. In addition, increased amounts of proteins are excreted in the urine. The determination of proteins in the urine contributes to the diagnosis of the disease. Since the cysts also hinder the outflow of urine, kidney stones can occur in 20 to 30 percent of cases. Which processes ultimately lead to complete kidney failure is not yet known exactly.

Diagnosis & course of the disease

Ultrasound examinations are suitable for diagnosing medullary-cystic kidney diseases. As part of these examinations, cysts from a size of five millimeters can be detected. Thus, it is possible to diagnose a cyst kidney to 90 percent quite early at the onset of symptoms.

A biopsy of kidney tissue should help determine the type. Often, however, no decisions can be made here, so that the anamnesis of the disease history within the family helps. If a certain type of 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 deduce the type of medullary-cystic kidney disease from the symptomatology of the disease. Not all cystic kidney diseases are hereditary. In some cases, cystic kidneys can also form due to other underlying conditions. In order to distinguish these cases, differential diagnostic examinations must be carried out.

Complications

This condition must definitely be treated by a doctor. Without treatment, this usually leads to the death of the patient. Those affected suffer primarily from bloody urine. This often leads to sweating or a panic attack. Furthermore, it is not uncommon for infections on the urinary tract to occur, which can lead to burning pain during urination.The quality of life of the affected person is significantly reduced due to the disease. It also comes to high blood pressure, which can lead to a heart attack. Likewise, it is not uncommon for pain to occur in the area of the stomach and abdomen. In the worst case, those affected can also suffer complete kidney failure and die from it. After all, those affected are dependent on dialysis or a transplant of the kidneys.

The kidney gets bigger and bigger and often leads to pain. Treatment of this condition can usually only be symptomatic and reduce pain. Furthermore, however, a transplant or dialysis is always necessary. Life expectancy is significantly reduced and limited by this disease.

When to go to the doctor?

If a genetic kidney disease has already been diagnosed in the family, a comprehensive genetic test should be carried out immediately after the birth of the child. Since the disease leads to premature death if left untreated, a timely diagnosis is recommended. In this way, a treatment plan can be created at an early stage and always adapted to the current needs of the organism.

Alternatively, a doctor’s visit is necessary as soon as blood shows up in the urine. If this is not caused by a single 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 body or unusual swelling, a doctor should be consulted. If there is a deformation in the area of the upper abdomen, there is cause for concern. A visit to the doctor is necessary so that a cause investigation can be initiated.

In many cases, the first health impairment occurs in the third or fourth decade of life. Therefore, people in adulthood are generally advised to participate in the regularly offered check-ups with a doctor. Changes or abnormalities during urination, peculiarities of the smell or a reduced amount of urine indicate discrepancies that need to be clarified. A chronic experience of pain, sleep disorders or a decrease in physical performance are other signs that should be medically examined.

Treatment & Therapy

As for all other hereditary cystic kidneys, there is no causal therapy for type 1 medullary cystic kidney disease. Initially, only symptomatic treatments can be carried out. This includes the treatment of urinary tract infections and high blood pressure.

The pain can be alleviated by puncture of filled cysts, because this relieves the pressure on neighboring nerves. However, long-term treatment can only be provided by Dialysis or, in the case of complete kidney failure, by Kidney transplantation .

Outlook & Forecast

Genetic medullary cystic kidney disease type 1 is a serious and fatal kidney disease. This usually occurs in the third half of life. Complete kidney failure can be expected within a few years with this rare disease. This is the case on average in the first years of life around sixty.

The prognosis is also poor because of the numerous 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. For these people, the prognosis is worse on average because the disease occurs more frequently.

The problem is that there are currently no therapeutic approaches. The symptoms and side effects of medullary cystic kidney disease type 1 can only be alleviated. In the final stages, those affected can only be helped with Dialysis or a kidney transplant.

However, 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 gene therapy can provide relief or a cure for those affected in later decades. But there is still a long way to go until then.

Prevention

Type 1 medullary cystic kidney disease is an inherited disease. Therefore, there can be no recommendations for their prevention. If cases of medullary cystic kidney disease have already occurred in the family, genetic counseling can be used to clarify the risk of a recurrence if you wish to have children.

Aftercare

Transplantation of the new kidneys is crucial for curing type 1 medullary cystic kidney disease. This needs to be treated by a doctor who specializes in it. After this procedure, the weakened body must be gradually and carefully strengthened again. Initially, however, strict rest is recommended to allow the surgical wounds to heal. The transplant requires regular visits to the doctor to clarify whether the recovery process is proceeding as expected and to identify any complications that may arise in good time. Since the follow-up treatment is relatively complex and lengthy, the follow-up care focuses on how to deal with the disease properly. Those affected should try to focus on a positive healing process despite the adversity. To establish the right attitude, relaxation exercises and meditation can help calm and focus the mind. If psychological upsets occur and last longer, it may be advisable to consult a psychologist and clarify this. Sometimes an accompanying therapy can help to build a positive attitude.

You can do that yourself

If type 1 medullary cystic kidney disease has been diagnosed, medical treatment is required. Some self-help measures and resources 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 in addition to antibiotic therapy . Sufficient hygiene in the intimate area must also be ensured to prevent the infection from spreading. In the case of an acute infection, irritating care products such as cleaning soaps or deodorants should be avoided. Natural remedies without artificial additives are more suitable. The main way to combat high blood pressure is to change your diet. In addition, a lot of sports should be done and on stimulants such as alcohol , Cigarettesor avoid caffeine. Obese people should take steps to reduce their weight. Drug treatment is useful for severe high blood pressure. The doctor in charge should monitor the measures mentioned and support them by administering medicines.

Type 1 medullary cystic kidney disease is usually treatable if the underlying condition is identified early. However, long-term treatment success can only be achieved through a permanent change in lifestyle.

Website | + posts

Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.