Frasier syndrome
| Classification according to ICD-10 | |
|---|---|
| N04.1 | Nephrotic Syndrome |
| ICD-10 online (WHO version 2019) | |
The Frasier syndrome (FS) is a very rare congenital disease with the main features pseudohermaphroditism and progressive glomerulopathy .
The name refers to the first author of the first description from 1964 by the American pediatricians SD Frasier, RA Bashore and HD Mosier.
distribution
The frequency is given as less than 1 in 1,000,000, so far about 50 affected people have been described. The inheritance is autosomal dominant .
root cause
Of the disease are mutations in WT1 - gene on chromosome 11 locus p13 based encoding a DNA-binding zinc finger protein coded. The Wilms tumor protein is also involved.
This gene is also involved in Denys-Drash syndrome , Meacham syndrome and hypospadias .
Clinical manifestations
Clinical criteria are:
- male pseudo- hermaphroditism , normal female external genitals , cord gonads, and a karyotype 46, XY.
- glomerular nephropathy with proteinuria and nephrotic syndrome
- terminal kidney failure as young adults
- significantly increased risk of developing a gonadoblastoma
classification
According to the phenotype of the external genitalia, the following classification has been proposed:
- Type 1 with female genitals, karyotype 46, XY, most common form
- Type 2 with male genitals, karyotype 46, XY
- Type 3 with female genital karyotype 46, XX
no gonadoblastomas were observed in the latter type
Differential diagnosis
The Swyer syndrome and Denys-Drash syndrome are to be distinguished .
literature
- A. Koziell, E. Charmandari, PC Hindmarsh, L. Rees, P. Scambler, CG Brook: Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy? In: Clinical endocrinology. Vol. 52, No. 4, April 2000, pp. 519-524, PMID 10762296 (Review).
- V. Zugor, M. Zenker, KM Schrott, GE Schott: Frasier syndrome: a rare syndrome with WT1 gene mutation in pediatric urology. In: Current Urology. Vol. 37, No. 1, January 2006, pp. 64-66, doi: 10.1055 / s-2005-870912 , PMID 16440249 .
Individual evidence
- ↑ a b c d Frasier syndrome. In: Orphanet (Rare Disease Database).
- ↑ SD Frasier, RA Bashore, HD Mosier: Gonadoblastoma associated with pure gonadal dysgenesis in monozygotic twins. In: The Journal of pediatrics. Vol. 64, May 1964, pp. 740-745, PMID 14149008 .
- ↑ Frasier syndrome. In: Online Mendelian Inheritance in Man . (English)
- ↑ UniProt P19544
- ↑ J. Ezaki, K. Hashimoto, T. Asano, S. Kanda, Y. Akioka, M. Hattori, T. Yamamoto, N. Shibata: Gonadal tumor in Frasier syndrome: a review and classification. In: Cancer prevention research. Vol. 8, No. 4, April 2015, pp. 271-276, doi: 10.1158 / 1940-6207.CAPR-14-0415 , PMID 25623218 (review).
