Alport syndrome is a genetic condition that damages the small blood vessels present inside your kidneys. There are small filtering units inside our kidneys that are known as glomeruli. Alport syndrome attacks these glomeruli and causes specific damage to our kidneys and sometimes kidney failure. It also causes hearing impairment and problems related to the eyes. People affected by Alport syndrome often notice blood in their urine, which is a condition of haematuria, and it indicates that the kidney is not functioning normally. There is a chance for them to develop a high level of protein in their urine, which is a condition of proteinuria. And all this situation results in end-stage renal disease.
(Read below: What causes Alport Syndrome and know about Alport Syndrome Treatment in Ayurveda)
Alport syndrome is caused when our genes change to a protein called collagen. Collagen is essential for the functioning of our kidneys. Any changes to it may lead to problems to your eyes and ears as it helps in the maintenance of the healthy tissue of ears and eyes. Given below are some different names to this syndrome-
- Hereditary interstitial pyelonephritis
- Hereditary nephritis
- Haematuria-nephropathy-deafness syndrome
- Hereditary haemorrhagic nephritis
- Hereditary familial congenital haemorrhagic nephritis
- Haematuria hereditary nephritis
- Congenital hereditary haematuria
- Haemorrhagic familial nephritis
- Genetic haematuria syndrome
Signs and symptoms of Alport syndrome
No matter what type of Alport syndrome has affected the body of the human, it will affect the kidneys. Here are some basic signs and symptoms that trigger the alarm of Alport syndrome in the human body.
- Hearing problems- Alport syndrome causes the problem of hearing in the patient normally by birth. In some cases, the hearing problem can be seen when the kidney stops functioning. Patients suffering from the problem of proteinuria are likely to get affected and may lose their hearing capacity. The hearing problems began with the disability to hear the high-frequency sound, and when the condition becomes severe, it began to affect the lower frequency as well. One can make the use of hearing aids to establish excellent communication with people.
- Eye problems- There come many issues related to the eyes. Abnormalities like lenticonus, keratoconus, cataracts as well as retinal mites can be seen. This seldom makes a threat to the vision of the person. A person might develop a cataract. The replacement process can do the surface of the person’s lens mould itself in an abnormal shape, either conical(lenticonus) or spherical(lentiglobus), but the treatment as we do in the cataract. In some cases, a corneal transplant is needed, whereas some medical contact lenses can be used to eliminate the situation.
- Haematuria and proteinuria- Blood in the urine are widespread in Alport syndrome from early childhood. The condition of the haematuria can be macroscopic (visible) in young children. With the progression of the disease, the protein begins to appear in the urine.
- Other related problems- Some other issues like an injury to the innermost layer of the aorta can be seen in the patients. Also, tumours that affect the smooth muscle of the oesophagus and female genital tract may affect the person.
Causes of Alport Syndrome-
Given are the causes of the Alport syndrome-
- Any alteration in specific genes can cause Alport syndrome. Proteins are created in our body on the instruction given by genes. Protein plays many essential functions in our body. Any alteration in the genes causes faults in the functioning of the protein, and this condition may affect our body.
- Human body cells normally have 46 chromosomes or 23 pairs of chromosomes in which 22 pairs are known as autosomes that are the same in male and female, and the one pair is a sex chromosome, the X and Y chromosomes. The COL4A5 genes are present on the X chromosome, and any mutation in these genes causes Alport syndrome. The condition is more severe in the male chromosome.
- The alteration of the genes causes a random process which is called lyonization. It varies from tissue to tissue or maybe from cell to cell. As the females also have one affected X chromosome and after the process of lyonization, we can say that females develop 50% of normal chromosomes, whereas 50% of altered chromosomes.
- Males have only one X chromosome, unlike the female, so the chances for males to get affected by the Alport syndrome is higher than the females.
Diagnosis of Alport syndrome
Based on your family history, it can be suspected that you might have Alport syndrome. Sometimes the symptoms also play an essential role in the suspicion, but a doctor and a test are needed for the confirmation of the syndrome. Here are some ways that will help you to know if you have Alport syndrome or not.
- Genetic tests- This test is performed to find the particular way that can lead to Alport syndrome. It tells if you have the Alport syndrome resulting genes in you or not.
- Kidney or skin biopsy- In kidney or skin biopsy, the tissue of your kidney is taken and examined under the microscope. The evaluation shows the causes of Alport syndrome in the human being.
- Hearing test- This test will be performed to know if the syndrome has affected your hearing capacity in any manner.
- Urinalysis- A urine test is done to check the content of blood and protein in your urine.
- Vision test- Vision test will help you to know if you have cataracts or if your vision has been affected in some manner or not. Some other reason for doing a vision test is that it helps to check the revealing signs of the syndrome like the abnormal shape of the lens or the white flecks in the eye.
- eGFR test- This test is performed to know the functioning rate of your glomeruli in kidneys. This is a significant indication of whether you have kidney disease or not—tests like blood urea nitrogen test or the creatinine test helps to know the condition of your kidneys.
Alport syndrome Ayurvedic Treatment
All the artificial medications and allopathy say that there is no cure for Alport syndrome yet, but Ayurveda is a historic system that has medications and remedies to almost every human body related problem. The modern-day medicines are just alternative. Ayurveda has herbs, roots, fruits that can cure anything. It shows us how the solution lies within the problem. When we talk about Ayurveda, Karma Ayurveda is a name to which almost every kidney patient is familiar. Here, the team of best Ayurvedic experts, dietitians, and nephrologists together works hard on the roots of the disease to eliminate the need for dialysis and transplant in patients. The patient should limit the potassium intake depending upon your age and weight. You should avoid food like dairy products as it is rich in potassium. You can take fruits and vegetables like apple, blueberries, peach, watermelon, raspberry, celery, carrots, green bean, zucchini, etc.
Disclaimer- Tests are suggested to know about kidney conditions and Alport syndrome. Do not add or quit anything to your diet without any advice from your doctor.