Though Fabry disease is a rare disease, its effects on alpha galactosidase in the body can lead to the failure of kidneys and other kidney-related problems. In this blog, we will learn about the linkage of Fabry disease in the degradation of the functionality of kidneys. To understand this, we must first know what Fabry disease really is, along with all the medical associations of Fabry disease in patients.
What is Fabry disease and how is it caused?
Fabry disease is a condition caused by mutations or pathogenic variance in the GLA gene. This gene is present on the X chromosome which makes this an inherited disease. The variation in the GLA gene causes disturbance in the formation of a lysosomal enzyme known as Alpha Galactosidase A. Alpha –GAL A is used in the breakdown of glycosphingolipids such as globotriaosylceramide (GL3). This breakdown is necessary for the use of the body and less accumulation of fat. Therefore, without GLA, GL3 molecules build up and accumulate inside the lysosomes. This affects the basic functionality of lysosomes, which are the recycling centers of the cells.
Types of Fabry disease
The classification of Fabry disease is done based on the age of patients affected by it and the early symptoms caused in a particular age group of patients.
- Classic Fabry Disease
This type of Fabry Disease is diagnosed in children and includes the symptoms such as
- Pain in nerves
- Burning sensation
- Stiff hands
- Verticillate in cornea
These symptoms are not persistently seen in these patients but are rather stimulated by excretion
- Late-Onset Fabry Disease
This type of Fabry Disease is diagnosed in adult males and includes symptoms that are concentrated to a specific organ such as the heart and kidney. These patients remain at a higher risk of Fabry Disease-related complications as there are not any early symptoms of Fabry disease.
Diagnosis of Fabry Disease
The diagnosis of Fabry Disease varies with the Type of Gender affected.
- For males Fabry disease is simply diagnosed by evaluating the blood sample taken from the patients to check for Alpha GAL A. If the amount of Alpha GLA A is seen below, then the GLA gene in the patient is diagnosed.
- For females, the analysis of genes is done first as surprisingly the majority of females have a normal level of Alpha GLA A in the blood even if they are suffering from Fabry disease.
How does Fabry disease affect kidneys?
As Fabry Disease is caused by the accumulation of GL3 and other lipids, this buildup in kidney veins leads to the abnormal or reduced functionality of the kidney. When kidney disease is caused by Fabry Disease, the first symptom is the increased level of `albumin and other protein in the urine. This type of kidney disease has its peak effects in the 40s. Males in this case are prone to End-Stage Renal Disease.
When seen under an Electron microscope, one can easily see the inclusion of GL3 in the podocytes of the glomerulus in the nephrons of the Fabry Disease patients. This inclusion of GL3 in podocytes is the basic cause of Proteinuria in these patients. This is because inclusion causes the loss of podocytes, and the lost podocytes are not easily replaced
Treatment of Fabry disease
- Complete podocytes GL3 clearance: this treatment is done in young children
- Substrate reduction therapy: In this treatment, the enzyme which makes the GL3 is inhibited to reduce the accumulation if it
- Gene Therapy: in this treatment, the vector or the virus-containing GLA producing gene is given to the patients. by doing this the cells make the Alpha GLA an enzyme which then goes into the blood to compensate for the natural reduced amounts of this enzyme. This is a novel Fabry disease treatment that is still under trails. But these trials hold the possibility that we might finally have the treatment for this disease.
Team for Fabry disease treatment
Usually, a geneticist with an interest in this disease is the leader of the team.
As Fabry disease runs in the family, it is important to know who is at risk in the family. If one member of the family is showing the symptoms of Fabry disease, it means that the other five members of that family may also be affected by this genetic disorder. Due to this statistical fact if you are a person with Fabry disease, ask your family members to get consulted by their doctors to get evaluated.
Alfa Kidney Care is at your disposal if you want to get tested for this disease by our leading practitioners. Contact Us to know more about the range of treatments.