Autosomal Dominant Alport Syndrome Caused by a Novel COL4A4 Gene Mutation: a Case Report and Literature Review

Abstract

Alport syndrome (AS) is one of the important causes of chronic kidney disease and end-stage renal disease. It is the second most common inherited kidney disease after autosomal dominant polycystic kidney disease. Autosomal dominant inheritance is a very rare mode of inheritance in AS, and patients with autosomal dominant forms of AS (ADAS) were previously reported to progress to end-stage renal disease at a later age. This article reported a patient who was diagnosed with ADAS in the Pediatric Nephrology Department of the First Affiliated Hospital of Henan University of CM on September 5, 2019 because of abnormal urine test findings for 4 years. The clinical data and genetic test results were reviewed. We reported the clinical, renal pathology and gene mutation of a ADAS family caused by the new mutation c.3506-3528del (p.G1169Efs*13) of COL4A4 gene (One family member developed end-stage renal disease at the age of 31). We also summarized the literature reports of Chinese ADAS, and made a comprehensive analysis of the relationship between the gene, clinical phenotype and prognosis of the disease. Due to the low incidence of ADAS, this family report expands the gene mutation spectrum of AS, and helps to improve clinicians' awareness and timely diagnosis and treatment of rare-onset ADAS.

Keywords

• nephritis, hereditary|alport syndrome|autosomal dominant|genetic testing|col4a4|end-stage renal disease|case report