The focal segmental glomerulosclerosis (FSGS) is characterized by a partially scarring of individual glomeruli. It is a group of different diseases that in the majority of cases can lead to nephrotic syndrome. Treatment depends on the underlying cause.
What is focal segmental glomerulosclerosis?
According to POLYHOBBIES.COM, focal segmental glomerulosclerosis is a collective term for various different diseases that lead to partial scarring (sclerosis) in kidney tissue. Focal sclerosing glomerulonephritis is also used synonymously. The addition “focal segmental” already indicates that glomerulonephritis does not affect the entire kidney, but only certain kidney corpuscles.
Furthermore, not the entire tangle of vessels in the kidney corpuscles is affected. Here, too, individual vascular lobules remain unaffected by the changes. Filtration processes of the primary urine take place in the kidney corpuscles. However, the sclerosis of the kidney tissue in the kidney corpuscles leads to a restriction of the filter function.
In this way, proteins that have not been filtered out can get into the urine from the blood. The so-called nephrotic syndrome then develops in around 75 percent of people suffering from FSGS, which is characterized by massive proteinuria, hypoproteinemia, hyperlipoproteinemia and edema.
The remaining 25 percent of patients only show increased excretion of proteins in the urine (proteinuria) as the only symptom. About 10 to 20 percent of all cases of nephrotic syndrome are due to focal segmental glomerulosclerosis. The majority of the disease affects men. Usually the FSGS begins at an age under 50 years.
The causes of focal segmental glomerulosclerosis can be diverse. So there are primary and secondary forms of this disease. In some cases, genetic factors appear to play a role in the primary forms of FSGS. Proteins of the so-called podocytes (cover cells of the kidney corpuscles) are affected by mutations.
However, many cases are idiopathic. A specific cause cannot be found here. Among other things, a malfunction of T cells is suspected. This leads to autoimmune reactions that lead to deposits of immune complexes in the area of the kidney corpuscles. This results in glassy (hyaline) deposits with additional fusions of podocytes.
According to more recent findings, the urokinase receptor (uPAR) is involved in the pathogenesis of the disease, at least in some cases. Usually this receptor is anchored in the membrane. However, in its soluble form it can lead to changes in kidney tissue.
The soluble urokinase receptor represents a so-called permeability factor, which influences the filter function of the kidney corpuscles. That would also explain the fact that kidney corpuscles can also be sclerosed again within a short time in kidney transplant patients.
The secondary form of FSGS can be triggered by various diseases such as IgA nephritis, lupus nephritis, other kidney diseases, hepatitis C, HIV, heroin abuse, excessive weight or high blood pressure.
Symptoms, ailments & signs
The main symptom of focal segmental glomerulosclerosis is increased excretion of proteins in the urine (proteinuria). Sometimes it is the only symptom. In the majority of cases, however, a nephrotic syndrome develops with massive proteinuria, hypoproteinemia, hyperlipoproteinemia, and edema.
Hypoproteinemia is characterized by a decreased level of protein in the blood. This results in a changed permeability behavior, which leads to water retention (edema) in the tissues. At the same time, the metabolism of blood lipids is disturbed (hyperlipoproteinemia). In the long term, kidney function deteriorates and leads to dialysis.
The disease is chronically progressive and can lead to complete kidney failure. Depending on the form of the disease, there are cases with a favorable or poor prognosis.
Knowing what type of disease is present is crucial for treating FSGS. Primary FSGS, for example, often responds to treatment with immunosuppressants. In the secondary form of the disease, the pressure in the glomeruli must be reduced with medication. Therefore a differential diagnosis is absolutely necessary.
A comprehensive anamnesis is taken to determine any underlying diseases. The level of protein excretion in the urine, the course of the disease and electron microscopic findings are also important for the diagnosis.
Focal segmental glomerulosclerosis belongs to a group of different diseases that affect the kidneys. This results in partial scarring on individual kidney corpuscles, which are responsible for the filtration process of the primary urine. However, the entire vascular tangle of the kidney corpuscles themselves is never covered by scar formations. The scarring threatens the kidney tissue with sclerosis.
Focal segmental glomerulosclerosis harbors considerable risk of complications and requires detailed medical care. If medical therapy starts too late, kidney failure can occur. The syndrome mostly affects men over the age of 45. The disease can be genetic, due to an autoimmune reaction or a defective filter function of the kidney corpuscles.
A thorough differential diagnosis provides information about which type the syndrome belongs to. In more than half of all patients, the findings increase into nephrotic syndrome with massive protein excretion. Edema in the tissues and a disturbed blood lipid metabolism are the consequences. The kidneys begin to severely restrict their function and the affected person becomes a dialysis patient.
If the syndrome develops chronically, total kidney failure can occur. In such a case, only a kidney transplant can help. If medical measures are taken at an early stage and regular electron microscopic findings are made of the urine, the therapy usually only includes various preparations, the tolerance of which is tailored to the patient.
When should you go to the doctor?
A doctor should be consulted in the event of swelling, edema and water retention on the body. If the changes increase in scope and intensity, a doctor’s visit is necessary as soon as possible. Thickenings on the fingers and feet are considered unusual and should be examined. If the person concerned has a vague feeling of illness or if they experience inner restlessness, they should consult a doctor.
If there are changes in kidney function, there is cause for concern. Pain, urination disorders or abnormalities in the amount of urine should be examined and treated. General weakness, a gradual decline in performance and fatigue are indications that should be discussed with a doctor.
This is particularly true if they increase or impair the ability to cope with everyday life. If there are noticeable changes in weight for no apparent reason, it is advisable to consult a doctor. If there is blood in the urine, action must be taken.
As soon as blood loss is noticed again when using the toilet, a doctor must be consulted, as there is a risk of permanent kidney dysfunction. If you feel generally unwell, have a high body temperature, sleep disorders, irritability or nervousness, you should consult a doctor. If the symptoms persist for several weeks, there are health problems that need to be clarified.
Treatment & Therapy
Primary focal segmental glomerulosclerosis with nephrotic syndrome is in urgent need of treatment because otherwise it would lead to kidney function impairment requiring dialysis. It has been shown that immunosuppressive treatment in the majority of patients leads to a reduction in proteinuria or, in some cases, even to its complete remission.
Prednisone is given primarily. In the event of an intolerance to prednisone, the patient is treated with cyclosporine. If relapses occur frequently, combination treatment of prednisone with cyclosporine is usually considered. This also applies to patients who do not respond to the administration of prednisone alone.
If there is no response to both drugs or if both drugs are intolerant, therapy with mycophenolate mofetil can also be used. FSGS without nephrotic syndrome does not need to be treated with immunosuppressants. All patients who cannot or do not need immunosuppressive treatment should be treated with ACE inhibitors or AT1 antagonists. The same goes for patients with secondary FSGS who are given these drugs in addition to treating the underlying condition.
Outlook & forecast
In the case of very late medical care or without the use of medical care, focal segmental glomerulosclerosis shows an unfavorable course of the disease. In addition to various complaints, the patient is threatened with kidney failure. Without immediate intensive medical care, the affected person dies prematurely.
The prognosis is also unfavorable if the disease is chronic. Here, too, the patient is at risk of organ failure with potentially fatal consequences. A dialysis treatment takes place beforehand, which is associated with severe impairment of the quality of life and limitations in coping with everyday life.
If the diagnosis is made early and then an optimal treatment takes place, the prognosis improves considerably. However, despite all efforts, no cure is to be expected. The administration of medication can alleviate the symptoms. If there are hardly any side effects and the active ingredients are well accepted by the organism, the increased excretion of proteins can be avoided or at least significantly reduced. The patient has to undergo long-term therapy, as the symptoms relapse immediately if the medication is discontinued.
The difficulty of the treatment also lies in the tolerability of the medication. In many cases the organism does not respond adequately to the active ingredients of the drugs. Therefore, a change of medication is often necessary.
Due to the diverse causes of FSGS, a general recommendation for prevention cannot be given. Since some kidney diseases are the result of obesity, diabetes, and other metabolic syndrome disorders, a healthy lifestyle with a balanced diet, plenty of exercise, and abstaining from alcohol and smoking is recommended to reduce the risk of FSGS.
There are no special or direct measures and options for follow-up care available to those affected with this disease. The patient is primarily dependent on a quick diagnosis and subsequent treatment so that there are no further compilations and complaints with this disease. The earlier it is recognized and treated, the better the further course is, as a rule, since self-healing cannot occur.
The focus of this disease is therefore always on early diagnosis and subsequent treatment. With this disease, the person should have their kidneys checked regularly. Only in this way can further damage to the kidneys be recognized early and then treated. Usually the disease is treated with medication.
Those affected are dependent on the correct dosage and regular intake. If anything is unclear or if you have any questions, a doctor must be contacted. A doctor should also be consulted in the event of unexpected side effects. The disease usually does not reduce a person’s life expectancy if properly treated. Further aftercare measures are not necessary.
You can do that yourself
Focal segmental glomerulosclerosis requires medical care, as the person concerned is at risk of kidney failure in the further course of the disease without assistance. Patients are unable to obtain symptom relief through alternative healing modalities or the natural healing powers of the body. A doctor should therefore be consulted at the first signs of the disease and his advice should be followed.
In everyday life, the patient can make sure that he keeps his own weight in the normal range. With the BMI calculator it is possible at any time to find out in which area the person concerned is by entering their age, current weight and height. If you are overweight, a diet plan should be worked out that contributes to weight loss without side effects, stress or a strong feeling of deficiency.
Basically, you should pay attention to a healthy and balanced diet. A vitamin-rich diet with lots of fresh fruit and vegetables strengthens the immune system and promotes well-being. The consumption of sugar should be reduced. At the same time, alcohol or nicotine should be avoided. In addition, sufficient exercise and the regular supply of oxygen are important to support health and to reduce the general susceptibility to illness and infection.