Department of Pediatric Nephrology, First Hospital, Jilin University, Changchun, 130021, Jilin, China.
BMC Nephrol. 2020 Jul 23;21(1):294. doi: 10.1186/s12882-020-01962-y.
Alport syndrome (AS) is a kind of progressive hereditary nephritis induced by mutations of different genes that encode collagen IV. The affected individuals usually develop hematuria during childhood, accompanying with gradual deterioration of renal functions. In this study, the multi-pronged approach was employed to improve the diagnosis of AS.
Twenty-two children were diagnosed and treated at the Department of Pediatric Nephrology of Jilin University First Hospital between January 2017 and January 2020 using the multi-pronged approach. The following information was collected from patients, including age of onset, age at diagnosis, clinical manifestations, family history, renal pathology and genotype.
All these 22 children were diagnosed with Alport syndrome according to the diagnostic criteria formulated by the Japanese Society of Nephrology (2015), among them, only 13 children met the diagnostic criteria released in 1988. All the 22 patients presented with hematuria, and proteinuria to varying degrees was observed in some patients. Three children suffered from hearing loss, but no child in the cohort had any visual problem or renal failure. Meanwhile, five patients were estimated to be at Stage 2, whereas the remaining 17 cases were at Stage 0. Renal biopsies were performed in 18 patients, including 14 showing glomerular basement membranes (GBM)-specific abnormalities. Moreover, 13 children were detected with mutations of genes encoding collagen IV.
The multi-pronged approach helps to improve the diagnosis of AS. Most patients do not have renal failure during childhood, but close assessment and monitoring are necessary. Also, the advancements in treatment are reviewed.
Alport 综合征（AS）是一种由编码 IV 型胶原的不同基因突变引起的进行性遗传性肾炎。受影响的个体通常在儿童期出现血尿，并伴有肾功能逐渐恶化。本研究采用多管齐下的方法提高 AS 的诊断水平。
2017 年 1 月至 2020 年 1 月，吉林大学第一医院儿科肾病科采用多管齐下的方法对 22 例患儿进行诊断和治疗。收集患者的年龄、发病年龄、临床表现、家族史、肾脏病理和基因型等信息。
根据日本肾脏病学会（2015 年）制定的诊断标准，这 22 例儿童均被诊断为 Alport 综合征，其中只有 13 例符合 1988 年发布的诊断标准。22 例患儿均有血尿，部分患儿有不同程度的蛋白尿。3 例患儿听力下降，但无患儿有视力问题或肾功能衰竭。同时，5 例患者被估计处于 2 期，而其余 17 例处于 0 期。对 18 例患者进行了肾活检，其中 14 例显示肾小球基底膜（GBM）特异性异常。此外，13 例患儿检测到编码 IV 型胶原的基因突变。
多管齐下的方法有助于提高 AS 的诊断水平。大多数患儿在儿童期没有发生肾衰竭，但需要密切评估和监测。同时，还回顾了治疗进展。
