Alport syndrome is a highly genetic disorder, directly involving the kidneys but sometimes also affecting the eyes and ears. It results from various point mutations in the genes responsible for producing type IV collagen, a protein involved in basement membranes in different organs. Since the kidneys have a high concentration of basement membranes, they are especially vulnerable to this disorder.
How Alport Syndrome Affects the Kidneys
The kidneys act as filters, removing waste products and excess fluids from the blood to maintain the body’s balance, or homeostasis. In Alport syndrome, however, defective collagen leads to abnormalities in the tiny filtering units of the kidneys known as glomeruli. These abnormalities cause scarring in the glomeruli, gradually reducing their ability to function properly. Over time, this scarring leads to a decline in kidney function, which can result in serious kidney damage if not addressed.
Haematuria, or blood in the urine, is one of the first symptoms in patients with Alport yndrome. Later on, proteinuria and hypertension can follow with a progressive loss in kidney function. In time, most individuals with Alport syndrome progress to end-stage kidney disease (ESKD), which then requires dialysis or transplant management.
Symptoms and Diagnosis
In addition to kidney-related symptoms, patients with Alport syndrome may experience sensorineural hearing loss and eye issues, such as anterior lenticonus (where the lens is cone-shaped) and retinal flecks. While kidney symptoms usually appear first and are the most clinically significant, the specific symptoms can vary depending on the type of Alport syndrome.
The main symptoms of Alport syndrome include:
As kidney function declines, chronic kidney disease (CKD) can develop, often without noticeable symptoms, until kidney failure occurs. Symptoms of kidney failure include swelling (oedema), especially around the hands or ankles, extreme fatigue, nausea and vomiting, and muscle cramps.
Diagnosis is typically made by clinical assessment supplemented by family history and genetic testing. A kidney biopsy may also be necessary to establish characteristic findings of glomeruli morphology under the microscope, such as splitting and thickening of the glomerular basement membrane.
Treatment and Management
Early diagnosis and careful management can make a difference in slowing the progression of kidney disease and addressing associated symptoms. ACE inhibitors, or ARBs, are normally prescribed to reduce proteinuria and lower blood pressure, which would have a certain effect on protecting kidney function.
In those patients who go on to develop ESKD, treatment by dialysis or transplantation is needed. Fortunately, in Alport Syndrome patients, kidney transplantation can prove to be successful; however, great care needs to be taken when screening possible donor-recipient matching, owing to the hereditary nature of the disease.
Alport syndrome: living with an end-stage disease
Patients with Alport syndrome should closely collaborate with their healthcare team, including specialists in kidney, hearing, and eye care, to monitor and manage the condition. Early detection is key to slowing the progression of the disease, so it’s important to consult a doctor if you experience symptoms like blood in your urine, hearing loss, or vision problems.
Genetic counselling is also essential for affected individuals and their families to understand the risks and implications for future generations. Although Alport syndrome is a challenging and incurable condition, especially in terms of its impact on kidney function, advances in medical management have significantly improved the outlook for those affected. With early diagnosis and a comprehensive care plan, the progression of kidney disease can be slowed, enhancing the quality of life for patients.
Dr. Suman Lata is the HOD & Consultant – Nephrology and Kidney Transplant at Manipal Hospital Dwarka, New Delhi
