[Analysis of diagnosis and treatment of Alport syndrome]

To investigate the clinical characteristics and the status of diagnosis and treatment of patients with Alport syndrome in China.

Patients with affirmative diagnosis of Alport syndrome from Department of Pedatrics, Peking University First Hospital in the past 20 years (1995-2015) were analyzed retrospectively. The clinical data including initial symptoms, visit reasons, age at onset of disease, family history, hereditary mode, methods of diagnosis, misdiagnosis and mistreatment were collected.

A total of 398 patients with Alport syndrome were included in this study, 48.2% of patients had the onset of symptoms before age of 3 years. The rate of onset of symptoms and diagnosis before age of 17 years were 95.7%. The initial symptoms included gross hematuria (37.2%), microscopic hematuria and proteinuria (25.1%), microscopic hematuria (14.8%), edema of eyelid and lower limbs (10.3%), increased foam in urine (4.3%), etc.; 39.5% of patients had no symptoms of urinary tract. Only 14.0% of the patients were diagnosed as Alport syndrome for the first time, and 86.0% of the patients were misdiagnosed. Hormones and immunosuppressive agents were used in 19.0% of patients diagnosed as Alport syndrome, and in 43.0% of patients there was misdiagnosis. Skin biopsy and immunofluorescence of type Ⅳ collagen ɑ5 chain in epithelial basement membrane had a detection rate of 77.8%. Electron microscopy of glomerular basement membrane had a detection rate of 92.6%, and genetic testing 96.6%. The time interval of diagnosis was 18.2 months and was gradually shortened in recent years.

Alport syndrome developed at a very young age. Hematuria was the most frequent initial symptom. There was a high rate of misdiagnosis and mistreatment for Alport syndrome. Genetic testing for Alport syndrome had advantages of high detection rate, genetic consultation and prenatal diagnosis.