What Is The Life Expectancy Of Someone With Alport Syndrome?

Having a healthy body is indeed a blessing in disguise. Many people take this blessing as something taken for granted until they are faced with disease or conditions that make them sick or unable to continue with their daily life as usual. While there are diseases or conditions that can be treated well, some conditions such as Alport syndrome may lead a person to have serious health issues in their life. In this DoctorOnCall’s article, we will learn about Alport syndrome, a disease that is considered rare.

Alport syndrome is considered a rare genetic disorder as it only accounts for 1 out of 50 000 newborns. Despite being rare, it is known as one of the most common inherited kidney diseases worldwide. Unfortunately, data obtained mostly are from European countries, America and part of Asian countries such as China, Korea and Japan. In these countries, there are already gene testing systems for the disease, making the disease more easily to be diagnosed and be given with accurate treatment.

Do you actually know what genetic disorder is? A genetic disorder is a disease that is caused by changes in the DNA sequence, either as a whole or partially from the normal sequence. In the case of Alport syndrome, the inheritance patterns can be in different ways. In 2 out of 3 cases, it is caused by the variants of COL4A5 gene and is inherited in an X-linked pattern. The specific gene is located on the X chromosome. Humans have two sex chromosomes which are X and Y in male and two X in female. Thus, when there is one X chromosome of which the COL4A5 gene can be found, having this only copy of the gene is enough to cause kidney failure and other severe symptoms of the disorder. This is in contrast with females as there are 2 copies of X chromosome and only one copy of the COL4A5 gene, usually will only result in hematuria (presence of blood in urine). Even so, some people may still experience severe symptoms. Apart from the COL4A5 gene, 15% cases of Alport syndrome are caused by other variants of COL4A3 or COL4A4 gene that are inherited in autosomal recessive patterns. This means that parents that have one copy of the defective gene will be the carrier and may pass down this gene to their offspring.

Alport syndrome is responsible for 2.2% of children and 0.2% adults with end stage renal disease (ESRD). This shows that Alport syndrome can cause great damage to the kidney for both children and adults. The number is higher in males as they tend to show symptoms and severe ones compared to females. Alport syndrome is a significant cause for chronic kidney disease and the leading ESRD in young adults and adolescents. The disease also causes up to 3% of children on renal replacement therapy.

The main symptom for Alport syndrome is hematuria early in life with the progressive deterioration of the kidney function (kidney insufficiency). Symptoms and the severity of the Alport syndrome vary greatly from one person to another. This is because of the gene affected. Beside the first sign of hematuria, other signs of kidney disease such as elevated albumin and other proteins in the urine indicate the progressive kidney disease. Apart from kidney function issues, patients can be found with high blood pressure mediated by the declining of kidney function. As the name implies syndrome, this usually means the disease has a lot of symptoms. For Apert syndrome, progressive hearing loss is commonly found in patients. Patients usually have normal hearing at birth and during early childhood but these hearing difficulties start to occur around the age of 10. This is usually noticed with hearing tests. In the next ten years, the hearing loss became progressive to the extent of the need for hearing aids. It is unlikely for Apert syndrome to affect the eyes in childhood but eye problems can occur in adult life. This includes abnormalities of the lens, retina and cornea that cause short-sightedness (myopia) that need frequent changes of the glasses, corneal erosions and yellow-white flecks retinopathy. These eye problems can impair vision.

Those diagnosed with Apert syndrome need to get the right treatment. To get the right treatment, accurate diagnosis must be made. Hence, patients with persistent hematuria should get checked by doctors. Blood tests and urine tests are often done before kidney biopsy is needed to diagnose the condition. Genetic testing is often recommended to check for the gene abnormalities and to help those who are carriers in family planning.