Fabry disease is a rare genetic disorder that affects children. This disease is caused by the deficiency of an enzyme that helps remove a certain fatty substance from our body.

As the fatty substance accumulates over time, it causes damage to various organs such as kidneys, heart, and brain. In this article, we will discuss the causes, symptoms, diagnosis, and treatment options of Fabry disease in children.

Causes of Fabry Disease in Children

Fabry disease is caused by a deficiency of an enzyme called alpha-galactosidase A. This enzyme helps break down a fatty substance called globotriaosylceramide (Gb3), which is commonly found in cell membranes.

In individuals with Fabry disease, the enzyme deficiency causes Gb3 to accumulate in the cells of various organs including kidneys, heart, and brain. Fabry disease is an inherited disorder and is caused by mutations in the GLA gene. The gene is located on the X chromosome, which means that boys are more likely to be affected than girls.

Symptoms of Fabry Disease in Children

The symptoms of Fabry disease in children can vary depending on the severity of the condition. Common signs and symptoms include:.

Pain in hands and feet
Skin rash
Fatigue
Gastrointestinal problems
Hearing loss
Vision problems
Kidney problems
Heart problems
Stroke

The symptoms may start to appear in early childhood and can worsen over time.

Diagnosis of Fabry Disease in Children

Diagnosis of Fabry disease in children involves the following steps:.

Physical examination
Blood test
Urine test
Genetic testing

Blood and urine tests can help determine the level of enzymes and fatty substances in the body. Genetic testing can help identify the mutation in the GLA gene responsible for Fabry disease.

Treatment of Fabry Disease in Children

There is currently no cure for Fabry disease. Treatment is aimed at managing the symptoms and preventing complications. The treatment options for Fabry disease in children include:.

Enzyme replacement therapy: This involves replacing the missing enzyme alpha-galactosidase A through intravenous infusions every few weeks. This therapy can help improve symptoms and prevent damage to organs.
Pain management: Pain in the hands and feet can be managed through pain relievers and nonsteroidal anti-inflammatory drugs (NSAIDs).
Management of kidney problems: Kidney problems can be managed through medication and dialysis.
Management of heart problems: Heart problems can be managed through medication and surgery.

Prevention of Fabry Disease in Children

Fabry disease is an inherited disorder and cannot be prevented. Genetic counseling can help identify the risk of passing on the disease to future generations.

People with a family history of Fabry disease can consider genetic testing before having children.

Conclusion

Fabry disease is a rare genetic disorder that affects children. It is caused by the deficiency of an enzyme that helps remove a certain fatty substance from our body. The disease can cause damage to various organs such as kidneys, heart, and brain.

Treatment options for Fabry disease in children include enzyme replacement therapy, pain management, and management of kidney and heart problems. Genetic counseling can help identify the risk of passing on the disease to future generations.