Child Kidney Dis.  2020 Oct;24(2):91-97. 10.3339/jkspn.2020.24.2.91.

Clinical Characteristics and Long-Term Prognosis of Alport Syndrome: A Retrospective Single-Center Study

• Jang HM
• Baek HS
• Park SH
• Kim YL
• Kim CD
• Jung HY
• Cho JH
• Han MH
• Kim YJ
• Cho MH

• KMID: 2508546
• DOI: http://doi.org/10.3339/jkspn.2020.24.2.91

Abstract

Purpose
Alport syndrome (AS) is one of the most common inherited renal diseases caused due to mutations of genes encoding specific proteins of the type IV collagen family, and its major clinical manifestations include progressive renal failure, sensorineural deafness, and ocular abnormalities. We investigated the clinical characteristics and long-term prognosis of AS in Korean pediatric and adult populations.
Methods
We conducted a retrospective review of medical records of 33 children and adults who had been diagnosed or treated with AS from 1985 to 2019.
Results
The mean age of the 33 patients diagnosed with AS was 16.2±13.6 years, and the male-to-female ratio was 2:1. At the first visit, recurrent gross hematuria was the most common initial symptom. In 10 of 33 patients (30.3%), sensorineural hearing loss (SNHL) was diagnosed, but none had ophthalmic problems. Moreover, 11 of 33 patients (33.3%) had advanced to end-stage renal disease (ESRD), and a significant difference was observed in the age of the patients who progressed to ESRD based on the presence or absence of SNHL (P =0.035).
Conclusion
SNHL in AS can be an important prognostic factor for long-term deterioration of renal function. Further investigation is required to confirm the clinical course and the genetic characteristics of AS in Korea through prospective national cohort studies.

Keyword

Alport syndrome; End-stage renal disease; Sensorineural hearing loss