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Genetic disease of Alport syndrome

What is Allport syndrome?

Allport syndrome is a genetic disease in which the gene is mutated in one of the peptides that make up type IV collagen. This type of collagen is present in the basal membrane of the glomeruli of the kidneys, inner ear, and eyes.

Allport syndrome (AS) is a progressive genetic kidney disease that, in most cases, appears in the first decade of life. As the disease progresses, kidney function decreases and patients develop ESRD (end-stage renal disease). It is caused by an abnormality in the gene that codes for collagen type 4 and is commonly seen in patients with this syndrome, hematuria (the presence of blood in the urine), proteinuria (the presence of protein in the urine), edema, and high blood pressure.
If a person has Allport syndrome, it is characterized by kidney disease, hearing loss, and eye abnormalities.

How Allport syndrome is transmitted

X-related Allport syndrome:

It is the most common type of this syndrome. 80% of patients with Allport syndrome have this type of disorder. Usually, in this type of disorder, men have more severe symptoms than women.

Autosomal Recessive:

When both parents have abnormal genes, the child may develop this type of syndrome. In this type of disorder, the severity of the disease is equal in men and women.

Autosomal predominant:

When only one parent has a disease and passes on the gene to the child, it will be automazole of the Ghal type. In the dominant type, men and women are equally affected.

What are the symptoms of Allport syndrome?

  • Blood in the urine that cannot be seen with the eye (microscopic hematuria)
  • Presence of protein in the urine (proteinuria)
  • Chronic kidney disease or kidney failure
  • Hearing loss
  • Eye problems

Symptoms of kidney failure include:

  • Swelling (edema), especially in the entire hand or ankle
  • Extreme fatigue
  • Nausea and vomiting
  • Cramps

Complications of Allport syndrome

Kidney Diseases
High blood pressure
Kidney failure
Progressive hearing loss

Anterior lens
Cataracts
Retinal problems
Blindness
Blurred vision
Severe eye pain
Posterior polymorphic corneal dystrophy
Thoracic or abdominal aortic aneurysms in some men with AS syndrome

Methods of diagnosis of Allport syndrom

Urine test: A urine test helps diagnose proteinuria and hematuria.
Blood tests: Blood tests help find the levels of protein and waste products in your blood.
Glomerular filtration rate :(eGFR) studies the function of the kidneys in excreting waste.
In addition to the above, kidney biopsy, hearing test, vision test, and genetic testing are also used to diagnose AS.
Diagnosis is typically made pathologically, but recent advances in comprehensive genetic analysis have made it possible to test for AS as a first-line diagnosis.

Treatment of Allport syndrome

Medications to control high blood pressure or ACE inhibitors
Diuretics (diuretic tablets)
Limiting salt in the diet
Dialysis: In case of kidney failure, a device similar to an artificial kidney is used to filter the blood.




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