Alport's syndrome in 78 patients: epidemiological and clinical study

In a nationwide study in Finland, 78 patients, 38 male and 40 female in 25 families, were found to have Alport's syndrome, corresponding to 1 in 53,000 live births. This frequency of clinically manifest Alport's syndrome was much lower than expected from earlier reports. This first sign of the disease was most often haematuria, but was sometimes proteinuria or hearing loss. These signs were detected at a similar median age in both boys and girls, namely 6.2 and 6.0 years, respectively. The patients were followed up over a median period of 12.1 years (range 0.1 - 34.0 years). The clinical course of the disease was more severe in the male subjects than in the female subjects: 53% of the males and 13% of the females developed terminal renal failure at median ages of 24.9 and 31.1 years, respectively. At the last observation, 34% males and 78% females were free of renal insufficiency at median ages of 10.3 and 26.8 years. Hearing loss was detected in 74% of the males and 5% of the females. Regarding the rate of deterioration of renal function, no statistically significant difference was noticed between males and females. The routine use of dialysis and transplantations has dramatically changed the life expectancy of the patients.