Frasier Syndrome
A Rare Cause of Refractory Steroid-Resistant Nephrotic Syndrome
Bibliographic Data
| ID | 15718095 |
|---|---|
| Authors | Yung‐Chieh Huang (0000-0003-2945-4404, Taichung Veterans General Hospital), Ming-Chin Tsai (0000-0002-7206-4228, Taichung Veterans General Hospital), Chi‐Ren Tsai (0000-0002-7105-823X, National Chung Hsing University), Chi-Ren Tsai (Department of Pediatrics, Taichung Veterans General Hospital, 1650 Taiwan Boulevard Sect. 4, Taichung 40705, Taiwan), Lin‐Shien Fu (National Yang Ming Chiao Tung University, corresponding author), Lin-Shien Fu (Department of Pediatrics, Taichung Veterans General Hospital, 1650 Taiwan Boulevard Sect. 4, Taichung 40705, Taiwan) |
| Year | 2021 |
| Volume | 8 |
| Issue | 8 |
| Pages | 617-617 |
| Publication date | 2021-07-21 |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | Children (JOURNAL) |
| Journal identifiers | ISSN: 2227-9067 • E-ISSN: 2227-9067 |
| Publisher | Multidisciplinary Digital Publishing Institute (PUBLISHER • CH) |
| DOI | 10.3390/children8080617 |
| PMID | 34438508 |
| OpenAlex | W3185550497 |
| Language | EN |
| Citations received | 1 |
| References cited | 23 |
Frasier syndrome is a rare disease that affects the kidneys and genitalia. Patients who have Frasier syndrome develop nephrotic syndrome (NS) featuring focal segmental glomerulosclerosis (FSGS) that is resistant to steroid treatment in early childhood. Male patients can have female external genitalia (pseudo-hermaphroditism) at birth and develop gonado-blastoma in their adolescence. Frasier syndrome is caused by mutations in the splice donor site at intron 9 of the Wilms' tumor WT1 gene; these mutations result in an imbalanced ratio of WT1 protein isoforms and affect the development of the urogenital tract, podocyte function, and tumor suppression. Here, we report on a patient with long-term refractory NS who developed a malignant mixed germ cell tumor arising in a gonado-blastoma of the ovary 8 years after the onset of proteinuria
Biology · Focal segmental glomerulosclerosis · Genitourinary system · Glomerulosclerosis · Kidney · Minimal change disease · Nephrotic syndrome · Pathology · Proteinuria · Wilms' tumor · Medicine · Prenatal Screening and Diagnostics · Renal and related cancers · Renal cell carcinoma treatment · Endocrinology · Internal Medicine
| Citations per year | 1 |
|---|---|
| Citation span | 2025 - 2025 (1) |
| Highly cited | No |