Alport syndrome is a genetic disorder that damages the tiny blood vessels in the kidney. It can affect both males and females and the symptoms of this syndrome is seen from early childhood.
- The main symptom of this syndrome is blood in the urine from the early life.
- It results to progressive decline in kidney function and ultimately leads to kidney failure.
- It severity is more in males than females, males with severe alport syndrome, 50% can have their kidney failure by the age of 25, increasing to 90% by the age of 40.
- It can cause hearing loss and eye problems
Causes of alport syndrome:
It is a genetic disease of kidney inflammation. It is caused due to mutation in a gene for a protein in connective tissue, known as collagen
There can be 3 types of inherited genetic types:
- X-linked alport syndrome (XLAS)- It is most common type, the disease is more severe in males than females
- Autosomal recessive alport syndrome (ARAS)- In this acse male and female has equal chance of getting severe disease
- Autosomal dominant alport syndrome (ADAS)- It is the rarest type. Here, male and female has equal severe disease.
Symptoms of alport syndrome:
Certain symptoms in the early age, which can occur due to kidney problem will be:
- Abnormal urine colour
- Blood in urine (which can get worse with certain infections or exercise)
- High blood pressure
- Swelling throughout the body
- Flank pain
In case of XLAS males, hearing loss is common in males, which is not the case in females. In ARAS, hearing loss can occur in childhood for both males and females. And in ADAS it occurs later in life for both male and female. Hearing loss usually occur before kidney failure
Alport syndrome can also lead to eye problems, which include:
- Abnormal shape of the lens with slow decline in vision and cataract
- Abnormal colour of the retina
- Macular hole which cause blurred or distorted vision
- Corneal erosion, loss of outer layer of the covering of the eyeball, which can pain, itching and redness of the eye.
Treatments of alport syndrome:
Certain treatments may include:
- To treat kidney disease symptoms certain medicines to lower blood pressure, and slow kidney damage can be prescribed.
- Diet to limit the intake of salt, fluids, potassium and protein can be prescribed
- Hearing loss can e managed with hearing aids
- Eye problems can be treated depending on the certain conditions of the eye.
Diagnosis of alport syndrome:
Certain diagnosis test may include:
- Blood test– Serum creatinine and blood urea nitrogen test may be done. Urea nitrogen is formed when protein bear down in kidney, it can measure the amount of urea nitrogen in blood and serum creatinine can measure the amount of creatinine in blood.
- Complete blood count-It measures the complete profile of lood with hempglobin, WBC, RBC and other compounds of blood.
- Urialysis- It is a physical, chemical and microscopic examination of the urine. It involves a number of test to detect and measure various compounds that pass through urine.
- Renal biopsy– A small piece of kidney tissue is removed for examination.