The son contacted our iCliniq doctor because he had doubts about whether his father and other family members had Alport syndrome. He said that his aunt was suffering from chronic kidney disease and had been on dialysis for a year. He added that the aunt's son had recently been diagnosed with X-linked Alport syndrome. He asked our doctor what the likelihood was that his father and other family members were affected by this disease.
Our iCliniq doctor carefully examined the condition and explained Alport syndrome in detail. Our doctor explained to the son that Alport syndrome was caused by mutations in the COLA45 gene on the X chromosome. The likelihood of his father and other family members being affected by the disease depends on genetic predisposition and family history.
Our doctor explained to the son several factors that indicated the risk of infection.
Our doctor explained to him that if his father was a carrier of a gene mutation, there was a possibility of developing Alport syndrome. If his aunt had Alport syndrome, the disease could be passed from his paternal grandmother to his father. Our physician suggested that the father undergo genetic testing, as this could help confirm Alport syndrome.
The second factor concerned the risk to other family members. Our doctor explained that if his father carried the mutation, then there was a 50% chance of passing the disease to his children. This meant that each sibling had a 50% chance of inheriting the mutation and was at risk for X-linked Alport syndrome.
Our doctor also pointed out to the son that if the father was not suffering from the condition, even then there were chances of other family members developing the condition. Women who had inherited a mutation in one copy of the gene were carriers and might show mild symptoms or have been asymptomatic. Males who inherited the gene mutation from the carrier mothers were more likely to show the full symptoms of Alport syndrome.
The son thanked our doctor for explaining everything in detail. He appreciated our doctor for his quick response.