Alport Syndrome – Symptoms, Causes, Treatment, Complications

What is Alport Syndrome?

The Alport syndrome is a medical condition that is known to affect the kidney and is characterized by loss of hearing and alteration of ocular function. This is a genetic disorder that can progress to a debilitating effect to the renal system. It has been reported that the condition is rare and it affects mostly children who has an underlying renal disease. A small number of adults who suffer from an end-stage renal disease are affected of Alport syndrome. Those who are not careful with their underlying kidney problems are most likely to suffer from the medical condition. The disease is also noted to be more common in men than in women, thus placing a less desirable prognosis to men. The effect of Alport syndrome to women is said to be lesser in severity compared in men.

Problems in the Function of the Kidneys Characterize Alport Syndrome

Symptoms, signs & characteristics

The Alport syndrome has a number of manifestations, making the condition unbearable when all progresses at the same time. Basically, it affects the tiny blood vessels found in the glomeruli of the kidneys. The following are the said signs and symptoms of the disease:

• Renal damage. There are changes in urine color. The filtering of wastes through the kidneys is impeded resulting to increased waste products stuck in the renal system. Urinary infection is likely to develop. Swelling of the legs, hands (development of ascites) or even anasarca (generalized body swelling) is noted. Proteinuria is noted when a urinalysis is done. The renal damage tends to affect the blood flow, which results to an increased blood pressure.
• Sensorineural deafness. This deficit is indeed prominent that it affects the casual conversation of the patient as hearing impairment develops. The hearing deficit is much distinct in men, as women are less affected to such presentation. Men are likely to suffer permanent deafness in the future.
• Ocular problem. Changes in vision are identified with Alport syndrome. There are instances that cataract formation is noted. A known manifestation of the disease is called anterior lenticonus, the known pathognomonic sign or distinct presentation of the disease setting it apart from others disease. This presentation is described as the bulging of the lens capsule.

Subcapsular cataract as seen in Alport Syndrome

Causes & Risk factors of Alport Syndrome

The Alport syndrome is considered a hereditary condition. Mutation of a specific gene is responsible for the development of this kidney problem. This is reported to be a rare condition, but can provide great effect on people. Those who are at risk for Alport syndrome are people who have a family history of ESRD and Alport syndrome and those who have had a hearing disorder before the age of 30.

Genetics

The condition can be inherited from a parent. A mother can pass the mutated gene to their child, even though the mother is asymptomatic or has no presenting symptoms of the disease. It has been presented that about 80% of reported cases who have Alport syndrome have mutations in their COL4A5 gene. This is said to be an X-linked pattern of inheritance, meaning the mother is the carrier of the mutated gene. A lesser amount of percentage, about 15% of cases goes to the inheritance of the mutated COL4A3 and COL4A4 genes. This can be passed on through an autosomal recessive pattern, meaning both parents may be carrying the gene which is then passed on to the child.

Diagnosis

Diagnosis of this condition is attained through a series of tests. Initially, a person’s medical history is collected in order to guide the medical practitioner to the ideal tests indicated. The following are done in order to assist in having a final diagnosis of Alport syndrome:

• Physical examination. When there are cataracts formations along with significant changes of the eye would suggest Alport syndrome. Increased blood pressure levels are also suggestive of the disease. Checking for the client’s sense of hearing is also assistive in the finding of the definitive diagnosis.
• Urinalysis. This is the most common examination whenever a urinary problem is noted. This can test for any abnormal protein levels in the urine. This can also identify presence of blood in the urine, which cannot be seen in the naked eye.
• Ultrasound of the KUB (Kidneys-Ureters-Bladder). This can visualize any abnormality of the renal system.
• Genetic testing. As this condition is known for its hereditary cause, it can be determined through screening of COL4A3, COL4A4 and COL4A5 genetic mutations. This may only take time for the result to be attained.
• Renal biopsy. This is done by obtaining a significant tissue from the kidneys that shall present an abnormal structure result.

Treatment of Alport Syndrome

There has been no definite cure for Alport syndrome. The treatment would only suggest management of the presenting symptoms and manifestations. The following are the proposed treatment for Alport syndrome:

ACE inhibitors

These are prescribed by the doctors in order to reduce the development of proteinuria. These drugs can also assist in lessening the progression of renal disease.

Renal transplant

This is suggested to clients when the condition has progressed to ESRD. When the condition has become hard to manage, the client is bound for a renal transplant.

Cataract removal

The cataracts should be extracted or repair of the cataract should be done in order to avoid loss of vision.

Renal dialysis

This is necessary especially when the kidney disorder has become uncontrolled.

Counseling

This is very much recommended as the possibility presents that a lot of important functions will be altered. The sense of sight and hearing are known to be affected. Suggesting the clients to have hearing aids to assist them when the problem emerges is ideal.

Diet modification

he client is expected to have fluid restrictions. Intake of salty foods is limited as this can only increase the client’s blood pressure.

Prognosis

Prognosis of the disease is said to be dependent on the sex of the client. It has been reported that women have a longer or attains a normal lifespan and good prognosis despite the diagnosis of Alport syndrome. Fewer effects are found on women compared to men. Men on the other hand, are greatly suffering from the syndrome. They have a number of complications that can give them a poor prognosis as the condition progresses.

Complications of Alport Syndrome

There are certain complications which are obvious from the emergence of Alport syndrome. It has been reported that the following are the proposed complications of the syndrome, when it has become uncontrolled:

• Loss of vision. This is most likely when cataracts where not removed or taken care of in an early time.
• End-stage renal disease. The condition has either developed beforehand Alport syndrome or the other way around. This condition is identified truly debilitating that a proposed renal transplant may be underway as this develops.
• Hearing loss. This is said to be a permanent complication.