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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 to 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.
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 effect the basic functionality of lysosomes, which are the recycling centers of the cells.
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.
This type of Fabry Disease is diagnosed in children and includes the symptoms such as
These symptoms are not persistently seen in these patients but are rather stimulated by excretion
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.
The diagnosis of Fabry Disease varies with the Type of Gender affected.
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 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
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 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.