Frasier综合征一例报道并文献复习

Report of a Frasier case with literature review

目的探讨Frasier综合征(FS)患儿的临床病理特点,以加深对FS的认识。方法分析1例典型FS患儿的临床病理特点,并对FS相关文献进行复习。结果患儿,女,染色体核型46,XY,有正常女性外生殖器,超声检查示有子宫但未见子宫内膜和卵巢;1岁2个月发现蛋白尿及肾功能不全,起病4个月进展至终末肾(ESRD)。肾脏病理为局灶节段性肾小球硬化(FSGS)。Wilms tumor-1(WT1)检测到IVS91228+4C>T突变。结论 FS为WT1突变所致的一组临床综合征,主要表现为进展性肾病综合征和男性假两性畸形,病理类型为FSGS。因此,对于女性激素耐药肾病综合征患儿,肾脏病理为FSGS时,应行染色体检查及WT1突变检测,以排除FS。

Objective To explore the clinical and pathological features of Frasier syndrome（FS）.Methods Clinical and pathological features,and WT1 mutation of a classic FS case was subjected to this study by reviewing literatures.Results The phenotype of the case was female,with normal female external genitalia,but her karyotype was 46,XY.Ultrasonography revealed microhystery without screenage of endometrium or bilateral ovaries.Proteinuria and renal insufficiency were noticed when she was 1 year and 2 months old,and 4 months later,the patient rapidly progressed to end stage renal disease（ESRD）.Renal pathology indicated focal segmental glomerulosclerosis（FSGS）.De novo WT1 intron9 1228＋4CT alternative splice mutation was detected in her peripheral blood.Conclusions Frasier syndrome being caused by WT1 mutation mainly presents with pseudohermaphrodism and progressive glomerulopathy,FSGS is the characteristic pathological change of kidney.Therefore,Karyotype analysis and WT1 detection are warranted in cases of female patients,or patients with male pseudohermaphrodism of steroid-resistant nephrotic syndrome（SRNS）and FSGS.