Journal of Shandong University (Health Sciences) ›› 2023, Vol. 61 ›› Issue (5): 73-78.doi: 10.6040/j.issn.1671-7554.0.2022.1239

• 临床医学 • Previous Articles    

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

YIN Qiuxia, ZHAO Fei, DING Guixia, HAN Yuan, ZHAO Sanlong, CHENG Xueqin   

  1. Department of Nephrology, Childrens Hospital of Nanjing Medical University, Nanjing 210008, Jiangsu, China
  • Published:2023-05-15

Abstract: 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 missense 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.

Key words: Oligomeganephronia, Paired box2 gene, Mutation, Proteinuria, Focal segmental glomerulosclerosis

CLC Number: 

  • R725.9
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