Clinical characteristics and gene analysis of a family with autosomal dominant Alport syndrome with the onset of nephrotic syndrome
10.3760/cma.j.cn101070-20200918-01531
- VernacularTitle:以肾病综合征起病的常染色体显性遗传Alport综合征一家系的临床特点及基因分析
- Author:
Dahai WANG
1
;
Xinxin JING
;
Chunrong SHAN
;
Qiuye ZHANG
;
Hong CHANG
;
Yi LIN
Author Information
1. 青岛大学附属医院心肾免疫儿科，山东 青岛 266000
- Keywords:
Alport syndrome;
Autosomal dominant inheritance;
COL4A4 gene;
Nephrotic syndrome
- From:
Chinese Journal of Applied Clinical Pediatrics
2021;36(21):1662-1664
- CountryChina
- Language:Chinese
-
Abstract:
The clinical characteristics, mutation analysis results, and family tree of a patient with autosomal dominant Alport syndrome (ADAS), who had nephrotic syndrome as the first manifestation were examined.The proband was a 11-month-old girl who presented with nephrotic syndromes and gross hematuria.During the treatment course, the patient had steroid resistance and a poor response to Cyclosporine and Cyclophosphamide pulse therapy.Renal biopsy was performed 2 years after disease onset.Under the light microscopy, glomerular segmental mesangio-proliferative lesions were observed.The staining of type Ⅳ collagen showed the loss of the α3 chain in the glomerular basement membrane (GBM) and tubular basement membrane, and α5 chain loss in GBM.Electron microscopy showed uneven thickness of GBM, with obviously delaminated and tearing dense basement membrane (BM) layer, showing a typical lace-like change.The segmental BM was loosened and widened.Her father did not develop microscopic hematuria until 10 years later, while her grandmother had asymptomatic hematuria and proteinuria when the proband was diagnosed.A new mutation in the COL4A4 gene was found in the proband, namely c. 1715delG (p.G572Vfs * 81). Her father and grandmother carried the same mutation, but her mother and sister did not have.The clinical manifestation of ADAS is clinically heterogeneous and its incidence may be higher than what we have expected.
