Medullary Cystic Kidney Disease Type 1 Definition and Meaning

Type 1 medullary cystic kidney disease is a so – called cystic kidney. The disease is hereditary and is inherited in an autosomal dominant manner. Without treatment, the disease ends fatally on average at the age of 62.

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. See AbbreviationFinder for abbreviations related to ADMCKD1 .

Type 1 medullary cystic kidney disease is a hereditary disease that is inherited in an autosomal dominant manner. Type 2 medullary cystic kidney disease is also an autosomal dominant hereditary kidney disease with similar symptoms. There is also an autosomal recessive hereditary form of cystic kidney.

These are different diseases with the same symptoms. Because of the same symptoms, hereditary cystic kidney was until recently considered a single disease. The only difference is when the first symptoms appear in the individual diseases.

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

Causes

As previously mentioned, medullary cystic kidney disease type 1 is an inherited condition. In contrast to type 2 medullary cystic kidney disease, however, the gene has not yet been precisely located. However, it is on chromosome 1.

A malfunction of the gene products polycystin-1 and polycystin-2 is assumed to be the cause of the formation of the cystic kidney. The interaction between the two connections 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 type 1 medullary cystic kidney disease, symptoms begin to develop in the second or third decade of life. Complete kidney failure occurs on average at the age of 62.

Symptoms, Ailments & Signs

As with all cystic kidneys, type 1 medullary cystic kidney disease begins with bloody urine, high blood pressure, abdominal pain, abdominal enlargement, and urinary tract infections. The blood pressure rises because the blood pressure falls when the renal vessels are displaced distally by the cysts.

This releases the hormone renin, 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 symptom-free until the final kidney failure. There is often chronic pain caused by the pressure of the growing cysts on surrounding nerves.

The bleeding is caused by tears in the cysts. However, the bleeding is not dangerous and will go away on its own. Because the cysts become a collection point for urine, germs have excellent opportunities to multiply. This results in the many urinary tract infections. The kidneys grow larger as the disease progresses and can eventually weigh several kilograms because more and more fluid accumulates in the cysts.

Healthy kidneys usually weigh 160 grams. Cystic kidneys can weigh up to eight kilograms. Increased amounts of proteins are also excreted in the urine. The determination of the proteins in the urine contributes to the diagnosis of the disease. Since the cysts also obstruct the outflow of urine, kidney stones can occur in 20 to 30 percent of cases. It is not yet known exactly what processes ultimately lead to complete kidney failure.

Diagnosis & disease progression

Ultrasound examinations are suitable for diagnosing medullary cystic kidney disease. During these examinations, cysts from a size of five millimeters can be detected. It is thus possible to diagnose a cystic kidney 90 percent of the time when the symptoms begin.

A biopsy of kidney tissue is said to help determine the type. Often, however, no decisions can be made here, so that the anamnesis of the medical history within the family is helpful. 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 test can also provide information. However, this is difficult with the PKD1 gene. It is not possible to draw conclusions about the type of medullary cystic kidney disease from the symptoms of the disease. Not all cystic kidney disease is hereditary. In some cases, cystic kidneys can also form due to other underlying diseases. To delimit these cases, differential diagnostic tests must be carried out.

Complications

This condition definitely needs to be treated by a doctor. Without treatment, the patient usually dies. Those affected primarily suffer from bloody urine. This often leads to sweating or a panic attack. Furthermore, it is not uncommon for infections to occur in the urinary tract, which can lead to burning pain when urinating.

The patient’s quality of life is significantly reduced due to the disease. It also leads to high blood pressure, which can lead to a heart attack. It is also not uncommon for pain in the stomach and abdomen to occur. In the worst case, those affected can also suffer complete kidney failure and die from it. Those affected are ultimately dependent on dialysis or a kidney transplant.

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

When should you 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 in the early stages and always adapted to the current needs of the organism.

Alternatively, a doctor’s visit is necessary as soon as blood appears in the urine. If this is not triggered by a one-time physical overload of the organism or if it occurs repeatedly, a doctor should be consulted. If you have high blood pressure, upper body pain, or unusual swelling, see a doctor. If there is a deformity in the area of ​​the upper abdomen, there is cause for concern. A doctor’s visit is necessary so that the cause can be investigated.

In many cases, the first health impairments appear in the third or fourth decade of life. It is therefore generally advisable for people of adult age to take part in the regularly offered check-ups with a doctor. Changes or abnormalities when urinating, peculiarities of the smell or a reduced amount of urine indicate discrepancies that need to be clarified. A chronic pain experience, sleep disorders or a decrease in physical performance are further 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 stage, those affected can only be helped by 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 bring 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. In addition, adequate hygiene in the intimate area must 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.