All posts by Валентина Нотева

Polycystic kidney disease (PKD) is a genetic disease characterized by the formation of fluid-filled cysts in the kidneys. These cysts can gradually replace healthy kidney tissue over time, leading to a decline in kidney function. PKD is one of the most common inherited diseases affecting the kidneys and can lead to various complications, including the development of chronic kidney disease (CKD), which can progress to its end stage (End stage renal disease, ESRD).

In about 90% of cases, patients have autosomal dominant polycystic kidney disease (ADPKD). This means that in the presence of 1 sick parent, the probability of children being born with ADPKD is 50%.

WHAT ARE THE SYMPTOMS OF POLYCYSTIC KIDNEY DISEASE?

In autosomal dominant polycystic kidney disease, the first symptoms usually appear around 30-40 years of age. In contrast, the autosomal recessive form manifests itself in childhood.

The most common symptoms include:

• Pain in the lumbar region due to the enlargement of the kidneys and the pressure exerted by the cysts.
• In the beginning, the blood pressure tends to be higher compared to the more advanced stages of the disease.
• Hematuria (blood in the urine). Polycystic kidneys are very susceptible to trauma and minor injury can lead to bleeding.
• Cysts can interfere with the normal flow of urine, increasing the risk of kidney stones.
• Urinary tract infections: Cysts can provide a breeding ground for bacteria, leading to recurrent infections.
• Fatigue, weakness, breathlessness

WHY DOES POLYCYSTIC KIDNEY DISEASE LEAD TO CHRONIC KIDNEY DISEASE?

Chronic kidney disease (CKD) is a progressive condition characterized by gradual loss of kidney function over time. The kidneys play a key role in filtering waste products and excess fluid from the blood, regulating electrolyte balance, and producing hormones that control blood pressure. As CKD progresses, these functions are impaired, leading to the accumulation of toxins in the body and disturbances in basic body processes.

The progression of polycystic kidney disease to chronic kidney disease results from the gradual and cumulative damage that the cysts cause to the kidney tissue over time. Several mechanisms contribute to the development of CKD in individuals with polycystic disease:

• Replacement of healthy kidney tissue by cysts.
• Cysts lead to reduced blood flow to the kidneys.
• Inflammation in the kidneys, as a result of which the healthy kidney tissue is replaced by connective tissue (fibrosis).
• Arterial hypertension, which is characteristic of polycystic kidney disease, further damages the kidney.
• Frequent urinary tract infections as well as infections of the cysts.

WHAT IS THE TREATMENT FOR POLYCYSTIC KIDNEY DISEASE?

Currently, there is no cure for polycystic kidney disease. The efforts of medical professionals are aimed at slowing the progression of the disease so as to preserve kidney function as much as possible and postpone the need for dialysis or transplantation.

Maintaining optimal blood pressure is a key aspect of polycystic kidney disease therapy. Angiotensin-converting enzyme (ACE) inhibitors or angiotensin II receptor blockers (ARBs) are the medications used.

In patients who are at risk of rapid disease progression, therapy with the medication tolvaptan is possible. Its use slows down the formation of cysts.

Other aspects of polycystic kidney disease therapy include:

• Appropriate diet
• Avoidance of contact sports due to risk of renal hemorrhages
• Symptomatic treatment of the pain caused by the enlarged kidneys
• Treatment of metabolic disorders
• Strict control of renal function by a nephrologist, regular imaging studies of the kidneys. Consultations with other specialists if necessary (cardiologist, endocrinologist, etc.)

WHEN IS HEMODIALYSIS OR KIDNEY TRANSPLANTATION NECESSARY?

Unfortunately, a large percentage of people with polycystic kidney disease must at some point begin dialysis treatment or consider a kidney transplant. This is necessary when reaching the end stage of chronic kidney disease, in which the kidneys have stopped functioning or their function is drastically reduced (glomerular filtration eGFR<15ml/min/1.73m2).

This condition is always accompanied by laboratory changes (high urea, creatinine, potassium and phosphates), as well as symptoms (itching, muscle cramps, nausea and vomiting, swelling of the legs and arms, back pain, often complete cessation of urine output, shortness of breath, insomnia).

Kidney transplantation is considered the best treatment option for patients who have reached an advanced stage of the disease. It is important to note that the procedure involves thorough patient assessment, preparation and finding a suitable donor, which takes time. After the surgery, immunosuppressive therapy is necessary, as well as strict monitoring of one’s health.

In cases where polycystic kidney disease progresses to end-stage kidney disease, dialysis (hemodialysis or peritoneal dialysis) must be started to help manage symptoms and maintain overall health. Dialysis is necessary while waiting for a transplant, or in cases where the patient is not a suitable candidate or does not wish to have a kidney transplant. The availability of different dialysis methods, as well as vacation dialysis centers, significantly reduces the limitations associated with regular procedures.

POLY-CYSTIC KIDNEY DISEASE

Cardiorenal syndrome

In ancient Eastern culture, the kidneys are a symbol of water, and the heart is a symbol of fire.

These two “elements” must be in balance for a person’s spirit to be calm and his body to work well. When the kidneys do not function properly, the water element “floods and extinguishes” the fire of the heart, and if the heart does not work well, it “dries up” the kidneys. With this metaphor, in general, the close connection between kidney and heart functions and their general importance for the human body can be represented.

Cardiorenal syndrome is a condition in which the healthy connection between the kidneys and the heart is disrupted to the extent that they cannot adequately support circulation and blood supply to other organs and systems. A disturbance in the normal functioning of one of the two organs almost necessarily leads to disturbances in the other as well. Treatment of such conditions requires the efforts of both nephrologists and cardiologists.

Depending on the speed and severity of occurrence of the aforementioned imbalance, cardiorenal syndrome can be divided into five types:

Type 1 – Acute cardiorenal syndrome: Sudden and severe heart failure occurs, causing a sudden and severe deterioration of kidney function to the point of acute renal failure. In such a condition, the pumping function of the heart drops dramatically. Because of this, an insufficient amount of blood reaches the kidneys. They “dry up” and urine output stops. Subsequently, in an attempt to restore normal blood flow to itself, the kidneys retain large amounts of water and salt and the cardiovascular system “overflows”. This is how the so-called pulmonary and/or cerebral edema, which are life-threatening conditions. Despite the seriousness of type 1 CRC, the good news is that any acute condition treated in time is completely reversible!

Type 2 – Chronic cardiorenal syndrome: In this case, the gradual and progressive “extinction” of the heart leads to the gradual “drowning” of the kidneys. This damage occurs slowly and gradually, but at the same time it is irreversible. When the heart gradually weakens, it can no longer maintain circulation. Due to this, the blood (water) stagnates in the various tissues and organs, nutrients and oxygen are depleted from it, the levels of toxic substances increase. The kidneys are organs extremely sensitive to the so-called oxygen starvation. When blood stagnates and oxygen is exhausted, irreversible changes occur in their structures, which smoothly and gradually lead to chronic kidney failure. Frequent and sudden changes in blood pressure (very high or alternating high and low blood pressure) act in a similar way, damaging the kidney structures irreversibly.

Type 3 – Acute renocardial syndrome: In this type of damage, the beginning of the imbalance begins with the kidneys – there is a sharp and severe violation of previously healthy kidneys, as a result of which they cannot excrete excess water. It “floods” the heart, repeatedly raises the demands on it and “overstretches” it. In this way, heart function is also quickly and severely impaired, and pulmonary and/or cerebral edema can again be reached. The most frequent causes of such a kidney disorder are the contrast agents used in the so-called “color pictures”, drug abuse, poisoning, some forms of specific kidney diseases (so-called glomeulopathies).

Type 4 – Chronic renocardial syndrome: Here we are talking about an already existing kidney failure, in which over the years too much water, salt, toxic substances are retained and an excessive amount of internal hormones are released, leading to “thickening and stretching” of the heart – chronic heart failure . The primary causes of kidney failure in this case may be other diseases: diabetes, hypertension, metabolic syndrome, gouty nephropathy, chronic pyelonephritis, etc. Again, it is worth mentioning that due to the smooth course of the diseases, the damage is slow but irreversible. In most kidney diseases, there is no pain (with the exception of infections and/or stones), and the complaints are general and non-specific – general fatigue, reduced endurance during physical exertion, tightness and discomfort in the chest and/or lumbar region, decreased appetite, nausea, etc. . The basis of both prevention and treatment of type 4 CKD are regular preventive examinations, restriction of salt and protein intake, high-vitamin diet, light to moderate physical activity.

Type 5 – Secondary Cardiorenal Syndrome: This last type of combined kidney and heart damage occurs to both at the same time and is most often the result of another disease. This type can occur both quickly and severely – for example, with sepsis, trauma, allergic shock, blood loss, dehydration, etc., and smoothly and gradually in the course of a systemic disease such as diabetes, lupus, gout, metabolic syndrome, etc. Quite often, acute type 5 KRS is part of the so-called multiple organ failure, which is a life-threatening condition and requires treatment in intensive care units. Chronic type 5 CRC is part of the “silent” diseases and often goes undetected until the moment when both organs are “wasted” to an irreversible extent.

The prevention of these complications almost entirely depends on the lifestyle and the control of other accompanying diseases – moderate physical activity, avoiding harmful foods and excessive amounts of salt, maintaining normal blood pressure values in hypertensives (around 120-130/80mmHg) , keeping blood sugar up to 9-10mmol/l and glycated hemoglobin around 7-7.5% in diabetics, reducing body weight in obesity, avoiding red meat, eggs, etc. purine-rich foods for gout. Prevention, prevention, diagnosis and treatment of cardiorenal syndrome are a common task of both nephrologists and cardiologists.

Unfortunately, CRS is a relatively new concept in medicine, and the mass of doctors rarely think in this direction. As a cause of reaching kidney failure necessitating dialysis treatment, CRC accounts for about 30% to 50% of cases. Therefore, for patients with already known kidney and/or heart failure, regular monitoring of urea and creatinine values at least once every 3 months, echocardiography and ultrasound examination of kidneys at least twice a year, avoidance of large amounts of salt, etc. are recommended.

– frequently used medications in the treatment of CRS are:

• ACE-inhibitors/ARB-blockers: Medications that suppress excessive “constriction” of small blood vessels and thus reduce both blood pressure and pressure in the vessels of the kidney itself. In this way, they protect the kidneys from further damage.

• Calcium antagonists: These are quite commonly used drugs, especially in the so-called hypertensive crisis. Like ACE inhibitors, they reduce vascular resistance and thus the demands on the heart.

• Diuretics: So-called “diuretics” are among the main drugs used to reduce water load. They act on the kidney, stimulating it to produce more urine than it would normally produce. In this way, excess amounts of water and salt are thrown out.

• Adrenoceptor blockers – for maintaining high blood pressure, the so-called sympathetic nervous system (using internal substances such as adrenaline, noradrenaline, etc. for its action). Accordingly, drugs that block its action lower the heart rate and the volume of blood pushed out by the heart, expand peripheral vessels, reduce the damaging effect on the kidneys.

• Natriuretic Peptide – This relatively new drug is considered a natural internal product of the body, released when the heart is “stretched” by water overload. Its main action is the excretion of excess salt through the kidneys, and with it water, thus reducing the total load on the CCS. In summary, we should emphasize again that the treatment of cardiorenal syndrome of any type is a joint effort of nephrologists and cardiologists. Therefore, our NephroLife DC team offers and maintains close collaboration between these two specialties of internal medicine.

Often, due to the more thickened and saturated with waste products and salts blood of patients on hemodialysis treatment, it happens that the AV fistula becomes blocked.

This condition is urgent and patients experience it dramatically, because hemodialysis is their life, and without a source – it is really at serious risk.

How to act in case of blocked fistula?

First of all, calm down. Worst decisions are made under stress.

A blocked fistula CAN be unclogged, but it takes time and specialist help:

1. Vascular surgeon – a consultation from an experienced vascular surgeon is necessary, who, in addition to making fistulas, is also specialized in unclogging them. A good specialist will understand the cause of the blockage and, most importantly, will know whether the AV fistula can be “repaired” or whether a new fistula will be needed.

It is possible to require an intervention under anesthesia to unclog the vessels, which is a common option.

But, of course, there is another development of things – the fistula is irreparably damaged and a new one has to be made. No need to worry – we repeat – an experienced vascular surgeon knows that an AV fistula is best for any hemodialysis patient and will schedule the earliest possible date for a new fistula.

2. Invasive cardiologist – there are already cardiology hospitals in which invasive departments a procedure for unclogging dialysis fistulas is performed, which resembles coronary angiography. The manipulation is available via a clinical pathway, performed under local anesthesia and is completed within an hour.

Here we should dwell on the most important question that concerns every hemodialysis patient who is presented with the difficult situation of a blocked (non-working) fistula, namely:

What should I do until my fistula works??? How will I do dialysis in the meantime?

The answer is one, especially if technological time is needed to unblock or build a completely new AV fistula – a temporary catheter is placed.

Placement of a temporary catheter is necessary and life-saving when the fistula cannot be used immediately, as it is unacceptable for patients to miss their hemodialysis procedures.

Of course, temporary catheters are associated with a number of inconveniences, but sometimes they are the only option for a non-functioning fistula.

In conclusion – good blood control, good dialysis, in which blood purification is as good as possible, the best quality dialyzers are used – these are all prerequisites for a long life of the AV fistula.

However, even when blocked, there is always a way out! It is worth reminding that the AV fistula is the best solution for you!

PERM CAT (Permanent Catheter – Permcat)

The permanent catheter (attention! Not to be mistaken with the temporary catheter) is the so-called consumable which, under anesthesia and under ultrasound control, is placed in one of the central vessels of the atrium. And through which, with a high flow rate, the patient’s blood is taken, purified through the hemodialysis machine and then returned to the patient, already filtered.

The visible part of the catheter is usually in the chest area, below the right collarbone.

Positives: – quick to install, can be used immediately.

Negatives: – The indwelling catheter is a kind of entrance for infections. In addition to impeccable disinfection and sterility, which is mandatory for the personnel in the dialysis structure when handling the catheter, it must be maintained in an absolutely clean environment, perfect hygiene must be observed, and it must be sterilely bandaged. Not to be touched, wet, scratched, moved by the patients at home. It would possibly make it difficult or impossible to swim in a pool, go to the sea, etc.

Bathing at home takes place only after placing a waterproof bandage on the catheter, in order to prevent water from reaching it. Dressing of the catheter and its processing is done only by the medical staff in the dialysis center. Despite all precautions and observed rules for disinfection and sterility, contamination of the catheter often occurs, making it an entrance for any infections, entering through it directly into the atrium and quickly covering the patient’s entire organism.

Such infections are extremely dangerous, difficult to control, and the catheter, once infected, must be replaced immediately. Here it is important to note that even with perfect maintenance of the catheter, it is replaced in approx. 4 – 5 years, and if an infection occurs – immediately.

The permanent catheter is a consumable that is not paid for by the Health Insurance Fund. Its price is approx. 550 BGN. – risk of blockage of the catheter – it often happens that the catheter stops working when it is blocked by biological deposits.

Then it needs to be changed again, in quick order. – the aesthetic aspect of the permanent catheter – it is visible, it could hardly remain hidden in the summer. In addition, it is not a suitable option for people who would not want it to be known at their workplace or in the immediate environment that they are undergoing hemodialysis treatment.

Overall, there are pros and cons to both vascular accesses, but it is important to note that the gold standard in hemodialysis requires fistula construction, especially for young and middle-aged patients, and resorting to a catheter only as a true last resort.

Today we will focus on Fabry disease – a rare genetic disease resulting from a mutation of a gene (GLA) located on the X chromosome.

Like any part of the human body, the kidneys often suffer from various diseases. Some of them which arise spontaneously, are treated and subside quickly. Others are hereditary, appear quietly, inflict their damage, and when the patient feels them, it is already too late – the damage is irreparable – the kidneys do not function and it is necessary to start hemodialysis.

That is why it is important to know the family history – many of the kidney diseases are genetic and determine as the family burden in the family. In these cases, prevention and regular prophylaxis is of paramount importance – even if they cannot always be avoided, hereditary kidney diseases could be caught in time and successfully controlled.

The condition affects people of all ethnic and cultural backgrounds. It mostly affects men (1 in 40,000 men), but women can also be affected by Fabry disease. The reason for this is that women have two X chromosomes, and if one of them is defective, the other manages to somewhat compensate for the defect.

For men, however, this is impossible.

Their symptoms are observed already in the first 10 years of life. Boys complain of reduced physical ability. They get tired more easily and have a harder time tolerating cold and heat because the blood vessels are affected. If the mother observes her son, she will notice that in the group of playing children he gets tired the fastest and goes to rest, hides from the sun or the cold. These are the first things that make an impression on mothers, but sometimes they are interpreted as a whim. Then the pain appears in the limbs, most often the lower ones. There are also unexplained abdominal pains that last for hours or days. They are usually associated with a slight increase in temperature and then disappear spontaneously. Mothers do not always remember to talk about these symptoms because they do not attach much importance to them. Therefore, doctors who know the disease should purposefully ask about the symptoms. In case of doubt, a test is done – most often on urine. A small amount of protein may appear in it. One negative sample is not enough, several are made because the protein appears in periods.

As the symptoms progress, young men develop hypertension (high blood pressure) approx. 20 years of age. In the third-fourth decade, the first strokes appear. After that, more pronounced pains appear, the retina is colored in a specific way, viewed in polarized light. The intermediate products of the exchange due to the genetic defect (metabolites) are released like spokes on wheels. This can be determined by an ophthalmologist who has experience with such patients, however.

After 30 years, impaired kidney function is also established. It is leading in the clinical picture, therefore these patients are usually seen by nephrologists.

In women, the same symptoms occur, but with a 10-15 year delay.

Most visible to the human eye are changes in the skin. Specific rashes appear, which are located on the buttock and abdominal area around the navel and to the inguinal folds. They are so characteristic that if the doctor has seen them, he can diagnose another person on this basis alone. This rash does not hurt or itch, it has only a cosmetic effect. It can appear at the very beginning or later. It is not indicative of the severity of the disease, but if it is known, we can with almost 100% certainty go towards this diagnosis.

And in the next article we will pay attention on – Why Fabry disease should be detected and treated early?

It is an indisputable fact that the news of starting hemodialysis, which patients with chronic renal failure (CKD) receive, is an extremely traumatic psychological moment – where starts suffering not only the body, but also the soul of the patient.

Dialysis treatment that continues for years, and the fact that the patient is dependent on the specialized equipment – the dialysis machine, on the observance of a strictly defined dietary regime, significantly limit the personal freedom of the patient, his social contacts, and seriously disturb his professional realization.

As a result, the patient experiences stress and anxiety, which have an adverse effect on the entire healing process, adaptation, emotions and quality of life.

Is hemodialysis treatment so scary and hopeless?

The short answer is: NO.

Here’s the longer one:

Hemodialysis treatment is now years away from what it was in the 90s – the equipment in private dialysis centers is at an excellent level, and in most municipal hospitals the old dialysis machines with hundreds of thousands of hours of service have already been replaced with new ones.

Competition between medical facilities raises the level of service for patients, and brand new Fresenius machines and consumables can now be seen more and more, which contributes to the excellent cleansing of toxins from the patient’s body.

The procedures, in turn, are tolerated by the patient much better, there are no constant vomiting, headaches during dialysis caused by low-quality and repeatedly used consumables, “disinfected” in formalin solution, there is no shortage of drugs to maintain a good level of hemoglobin, iron, calcium, phosphorus no longer “flys in the sky”. Hepatitis epidemics have not occurred for decades.

The many dialysis facilities scattered in the cities allow all patients not to be “tied to the machine”, but to be able to travel, if they wish, to go to the sea or on holiday abroad.

Most patients of working age continue with their employment.

Dialysis patients at a younger age, and not only that, have an excellent chance and opportunity for transplantation – again thanks to the quality dialysis they perform, which preserves the body as much as possible and gives it the necessary time until the cherished moment of transplantation, the chance also increases for the new authority to be accepted.

Cases of patients of childbearing age who, after a successful transplant, become mothers and continue their lives to the fullest are no longer rare.

Of course, for a job between two people to be done successfully and well, both must participate equally. Efforts are also needed on the part of the patients.

A good diet, strict adherence to dietary restrictions, no matter how unpleasant they may be at times, is a necessary part of the process.

Regular control of blood pressure, timely help from various specialists (cardiologist, endocrinologist, etc.), when necessary, are the best helper for the patient with CKD.

Last, but not least, is the choice of a dialysis structure – it is most important that the patient chooses that place where there is a successful symbiosis between excellent, new equipment, excellent medical control carried out during the dialysis sessions – which means the doctor to be constant between his patients, because in dialysis “whites” happen in seconds. One of the most important people in the dialysis facility is the dialysis nurses – they literally hold the patients’ lives in their hands. When the dialysis nurse is experienced, she can “stab” even the most difficult fistula, can sense an approaching danger for the patient even before the doctor has thought about it, and prevent it.

Medicines are also an indispensable part of the treatment and help in the long term to maintain the good general condition of the body. Saving them, unfortunately, does not lead to anything good.

In conclusion, dialysis is a team game, a game of trust and professionalism.

And let’s not forget that there is always a chance!

BALANCING WORK AND DIALYSIS