منابع مشابه
Proteinuria in Frasier syndrome.
INTRODUCTION Frasier syndrome (FS) is a genetic form of glomerulopathy, which results from mutations in the Wilms'tumour suppressor gene (WT1). Proteinuria in FS has been traditionally considered unresponsive to any medication and FS inevitably progresses to end stage renal failure. CASE OUTLINE We present a patient with FS who had atypical clinical manifestation and unusual beneficial antipr...
متن کاملFrasier syndrome ( FS )
Clinical presentation usually occurs between 2nd and 3rd decades; most cases at puberty. Exceptional cases in younger children; youngest example at 6 months of age. Male pseudohermaphroditism; phenotypically female patients presenting with amenorrhea. XY karyotype: Streak (dysgenetic) gonads with gonadoblastoma. Normal external female genitalia; clitoris enlargement and ambiguous genitalia may ...
متن کاملGonadal tumor in Frasier syndrome: a review and classification.
Frasier syndrome is a rare inherited disease characterized by steroid-resistant nephrotic syndrome, gonadal tumor, and male pseudohermaphroditism (female external genitalia with sex chromosomes XY), which is based on a splice site mutation of Wilms tumor-suppressor gene 1 (WT1). Several unusual Frasier syndrome cases have been reported in which male pseudohermaphroditism was absent. We reviewed...
متن کاملFrasier syndrome: a rare cause of delayed puberty.
We report on a post-renal transplant patient who presented with delayed pubertal development at the age of 15 years. She had a normal female phenotype. Blood analysis showed hypergonadotropic hypogonadism. Her karyotype was 46,XY. DNA analysis showed a heterozygous mutation in the WT1 gene (C to T mutation at position +4 of the splice donor site within intron 9). A diagnosis of Frasier syndrome...
متن کاملBRIEF COMMUNICATIONS Frasier Syndrome: A Cause of Focal Segmental Glomerulosclerosis in a 46,XX Female
The description of Frasier syndrome until now has been restricted to XY females with gonadal dysgenesis, progressive glomerulopathy, and a significant risk of gonadoblastoma. Mutations in the donor splice site in intron 9 of the Wilms’ tumor (WT1) gene have been shown to cause Frasier syndrome and are distinct from WT1 exon mutations associated with Denys-Drash syndrome. The WT1 gene, which is ...
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ژورنال
عنوان ژورنال: Srpski arhiv za celokupno lekarstvo
سال: 2013
ISSN: 0370-8179,2406-0895
DOI: 10.2298/sarh1310685p