Rare Pediatrics News
Spotlight On
Alport syndrome
Alport syndrome is a genetic condition characterized by kidney disease, loss of hearing, and eye abnormalities
Prevalence
1-9 / 1,000,000
Age of Onset
ICD-10
Q87.8
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
Rare View
Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease.
5 Facts you should know
FACT
Alport syndrome is a rare genetic disorder characterized by progressive kidney dysfunction, hearing loss, and occasionally eye abnormalities, constituting a complex genetic anomaly
FACT
Diagnosis involves meticulous clinical assessments and genetic testing to identify mutations in specific genes, with neurological symptoms serving as pivotal indicators for identification
FACT
Treatment primarily focuses on symptom management and complications, including strategies like blood pressure control, specialized care, and, in some cases, kidney transplant
FACT
The condition originates from mutations in genes linked to collagen production, often emerging during childhood, profoundly impacting kidney functionality, and at times, causing hearing and vision impairments
FACT
Prognosis varies; while advancements improve life expectancy, progressive kidney deterioration persists, leading to potential complications such as hearing or vision issues
Interest over time
Common signs & symptoms
Diffuse glomerular basement membrane lamellation
Thin glomerular basement membrane
Hypertension
Proteinuria
Mesangial hypercellularity
Current treatments
Although there is no one specific treatment for Alport syndrome, the goals of treatment include monitoring and controlling progression of the disease and treating the symptoms. Strict control of blood pressure is very important to keep the kidneys as healthy as possible. Research suggests that ACE inhibitors, angiotensins, and statins can help reduce proteinuria and the progression of kidney disease. However, treatment of chronic kidney failure often becomes necessary. This can include dietary modifications and fluid restriction. Ultimately, chronic kidney failure progresses to end-stage kidney disease, requiring dialysis or transplantation. Kidney transplantation in people with Alport syndrome is usually successful, but some studies have reported that about 10% of transplanted patients develop inflammation of the kidneys (nephritis)