Alport syndrome

Alport syndrome's disease overview

Alport syndrome (genetic nephritis) is a disease that causes damage to small blood vessels in the kidneys by attacking glomerular plumps (the smallest filtering unit in the kidneys) leading to Kidney disease and finally kidney failure. In addition, patients nephritis can also suffer from hearing loss along with eye problems

There are 3 types of genes that cause Alport syndrome including:

Alport syndrome associated with X (XLAS)

ALPORT syndrome (ARAS)

ALPORT syndrome (ADAS)

Alport syndrome associated with X (chromosome X) is the most common form for about 80% of the patient of this type. Men's patients with this type will be more seriously affected and lifelong kidney failure compared to female patients but not excluded kidney failure progresses in girls

ALPORT syndrome of diving traits (ARAS) or superior traits (ADAS) is distinguished based on children's abnormal genes due to genetic parents. If both parents bring abnormal and genetic genes for children, aras, and only parents carrying genetic genes for children are adas

Alport syndrome is very rare with the rate of 1/50000 infants

Causes of Alport syndrome's disease

The cause of the Alport syndrome is due to mutations in 3 genes: Col4A3, Col4A4 and Col4A5. These are all information that provides information to produce Collagen Type IV that plays an important role in glomerular. This 3 gene mutation will lead to abnormalities in Collagen Type IV in platelets, making the dialysis of kidney abnormalities easily lead to kidney failure

Besides, Collagen Type IV is also an important component of Corti, a structure that belongs to it, helping to convert sound wave into nerve impulses for the brain. Sự biến đổi collagen type IV có thể dẫn đến giảm chức năng của tai hay mất thính lực

Collagen Type IV and play a role in the eye to help maintain the shape of the lens and cells of the retina, so the patient with Alport syndrome may also appear million million. Dyses related to hammocks and shapes of lens

Symptoms of Alport syndrome's disease

Whatever the alport syndrome, it will cause damage to the kidneys due to the small blood vessels in the glomerular affected by the waste and excess water in the body causing symptoms such as:

Bloody in the urine: This is a common and early sign of Alport syndrome (with proteinuria; high blood pressure; edema on the legs, ankles, feet and surrounding around Eyes)

Many genetic patients with genetic nephritis may also have abnormal symptoms such as hearing loss due to abnormalities in the ear canal, manifested in adult age period

Besides, there may be eye lesions such as corneal opaque, color perception disorders in the retina even leads to blindness

Transmission route of Alport syndrome's diseaseAlport syndrome

is a genetic disease, so the Alport syndrome is not transmitted but mainly occurs by genetics:

Mutations in Col4A5 gene linked to chromosomes X, accounting for 80% of cases, so men only need to carry a mutant gene to manifest the disease, the female heterosexual Deaths often have only erythrocytes

Mutations in Col4A3 and Col4A4 genes are homosexual mutations or dual heterozygous mutations that are often associated with inbreeding and only 15% of diseases

People at risk for Alport syndrome's disease

Alport l syndrome is genetic disease, that is, genetic through many generations, so the risk object is mainly children with parents, mother or father and mother carry a mutant gene Disease

Prevention of Alport syndrome's disease

Need to build a balanced diet and have a high calorie amount for children, taking into account the state of the kidneys

Children need to be provided with adequate amount of protein, fat and carbohydrate

Avoid exposure to patients with infections to reduce the risk of common infections at age such as acute respiratory infections

Immunization for children is immunization according to epidemiological indications rather than vaccinated for children with nephritis

Diagnostic measures for Alport syndrome's disease

When children have typical symptoms of the disease, a number of tests need to be done to diagnose the alport syndrome including:

Urine tests: To find protein and blood in urine

Testing of blood formula: To find out the protein and waste content in the blood

Global filtration test (GFR): To assess the ability to filter the kidneys from the body

kidney biopsy: When necessary, it may take a small piece of the kidneys to observe under a microscope

Test of hearing: To check the level of impact on the hearing of the disease

Visual test: To check the vision to see if it has been affected

Genetic test: necessary for diagnosis and know the gene type of Alport syndrome

Alport syndrome's disease treatments

Currently, Alport syndrome has no specific treatment, the principle of treatment only includes monitoring, progressive control of the disease and symptom treatment

Patients need to be strictly controlled to keep the kidneys healthy, besides, they also need to change their diet and limit drinking water

When chronic renal failure progresses to the end, the patient needs dialysis or kidney transplant. The proportion of patients has been transplanted but developing nephritis is only 10%, the remaining kidney transplant in patients with Alport syndrome is usually successful

Using hearing aids or surgery to treat eye defects is necessary to support the treatment of hearing loss as well as eye damage caused by genetic nephritis

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