Department of Nephrology, Xiangya Hospital, Central South University, Changsha, China.
Department of Pathology, Xiangya Hospital, Central South University, Changsha, China.
Mol Genet Genomic Med. 2024 Sep;12(9):e70006. doi: 10.1002/mgg3.70006.
Paired box gene 2 (PAX2) heterozygous mutations can cause renal coloboma syndrome, but its role in patients with focal segmental glomerular sclerosis (FSGS) has been rarely reported.
Based on the clinical manifestations and renal pathological characteristics of the patient, as well as familial whole exome sequencing, the diagnosis of FSGS related to PAX2 mutation was confirmed. Treatment such as lowering urinary protein and blood pressure was given, and the patient was followed up and observed.
There is a familial heterozygous case presented with chronic kidney disease secondary to FSGS, which was related to PAX2 frameshift mutation due to the deletion of G at the position 76 (c.76delG). To our knowledge, this is the first report of PAX2 c.76delG variant related to adult-onset FSGS.
Here, we further expand the phenotypic spectrum of FSGS. Genetic screening especially PAX2 mutation is recommended in patients with adult-onset FSGS of unknown etiology.
配对盒基因 2（PAX2）杂合突变可导致肾眶距增宽综合征，但它在局灶节段性肾小球硬化（FSGS）患者中的作用鲜有报道。
根据患者的临床表现和肾脏病理特征，以及家族全外显子测序结果，确诊 FSGS 与 PAX2 突变相关。给予降尿蛋白、降压等治疗，并对患者进行随访观察。
家族中存在 1 例杂合子病例，表现为继发于 FSGS 的慢性肾脏病，因 76 号位置 G 的缺失（c.76delG）导致 PAX2 移码突变。据我们所知，这是首例报道的与成人发病 FSGS 相关的 PAX2 c.76delG 变异。
本研究进一步扩展了 FSGS 的表型谱。建议对病因不明的成人 FSGS 患者进行遗传筛查，尤其是 PAX2 突变筛查。
