Ultrasonographic Features of the Kidney in Patients With Frasier Syndrome and Stage 5 Chronic Kidney Disease: A Case Report and Literature Review.

Authors

Wei Geng, Xiaolu Li, Yujie Xie, Jiarui Liu, Mengmeng Yan, Yuchen Li, Chunping Ning

Published in

Journal of clinical ultrasound : JCU. Sep 28, 2026. Epub Sep 28, 2026.

Abstract

Frasier syndrome (FS) is a rare WT1-related disorder characterized by progressive nephropathy and diffuse renal parenchymal damage on imaging. Ultrasonographic findings of end-stage kidney disease in FS have rarely been documented.
We present the case of a 12-year-old boy who was diagnosed with FS, harbored a heterozygous c.1447+5G>A mutation in his WT1 gene, and developed CKD Stage 5. Renal ultrasonography and non-contrast CT were performed. A systematic literature review was conducted to contextualize the imaging findings.
Non-contrast CT revealed multiple areas of abnormal density in both kidneys, which raised suspicion of Wilms tumor. Ultrasonography demonstrated multiple avascular, non-encapsulated nodular hyperechoic areas on a background of diffusely abnormal parenchyma and ruled out malignant tumors. The literature review confirmed that similar findings have rarely been reported in FS patients with CKD Stage 5.
These findings describe a distinctive end-stage renal ultrasound pattern in FS. Recognition of this pattern may help clinicians avoid unnecessary invasive procedures when renal malignancy is suspected in patients with advanced CKD.

PMID:
42802991
Bibliographic data and abstract were imported from PubMed on 28 Sep 2026.

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