寡而大肾发育不良合并PAX2基因突变1例并文献复习

A case of oligomeganephronia with PAX2 gene mutation and review of literature

目的 探究寡而大肾发育不良合并配对盒基因2(PAX2)基因突变病例临床特点。方法 回顾分析1例肾活检病理为寡而大肾发育不良,基因示PAX2错义突变患儿的临床资料,并复习相关文献。结果 患儿,男,9岁8个月,表现为非肾病水平蛋白尿,肾功能不全,肾活检病理提示:(1)寡而大肾发育不良;(2)局灶节段性肾小球硬化。二代测序发现PAX2基因c.94C>T (p.P32S)杂合变异,Sanger测序验证示变异来自患儿父亲。结论 考虑可能是来源于患儿父亲的PAX2基因杂合突变致病,导致患儿肾发育不良。寡而大肾发育不良起病隐匿,临床中孤立性蛋白尿伴有肾功能不全需警惕此病,及时行肾活检。

Objective To explore the clinical characteristics of oligomeganephronia with paired box2(PAX2)gene mutation.Methods Clinical data of a child diagnosed with oligomeganephronia by renal biopsy and PAX2 gene mis-sense mutation by genetic testing were retrospectively analyzed,and relevant literature was reviewed.Results A boy aged 9 years and 8 months presented with non-nephrotic proteinuria and renal insufficiency.Pathological diagnosis of renal biopsy showed oligomeganephronia and focal segmental glomerulosclerosis.Genetic testing showed a heterozygous mutation of c.94C>T(p.P32S)in PAX2 gene,and Sanger sequencing verified that the mutation was from the father.Conclusion The heterozygous mutation of PAX2 gene from the father may cause the disease,leading to renal dysplasia.The onset of oligomeganephronia is insidious.In clinical practice,solitary proteinuria with renal insufficiency should be warned of this disease,and timely renal biopsy should be performed.