Abstract | INTRODUCTION: Frasier syndrom is an autosomal dominant, hereditary disease characterized by nephropathy, gonadal dysgenesis and risk of gonadal blastoma in early childhood. To date, in many patients with Frasier syndrome WT1 mutations have been found, occurring exclusively as germ-line mutations of the alternative splicing donor site in intron 9. A Wilms tumor is seen only rarely in this clinical entity. In the present paper we describe the clinical course of a patient with Frasier syndrome confirmed by molecular genetic analysis. CASE REPORT: Our patient with Frasier syndrome as confirmed by molecular genetic analysis is now 19 years old. The patient became dependent on dialysis due to nethropathy in the form of focal sclerosing glomerulonephritis and terminal renal insufficiency. A kidney transplantation in the left iliac fossa together with new implantation of the ureter according to Dodson. For prophylactic reasons on account of the high risk of gonadal blastoma associated with the disease and sonographically detected microlithiasis in both testicles we performed one year later an inguinal castration. Histology revealed the picture of a severe tubular testicular atrophy with arrested spermatogenesis and focal intratubular germ-line neoplasia. CONCLUSIONS:
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Authors | V Zugor, M Zenker, K M Schrott, G E Schott |
Journal | Aktuelle Urologie
(Aktuelle Urol)
Vol. 37
Issue 1
Pg. 64-6
(Jan 2006)
ISSN: 0001-7868 [Print] Germany |
Vernacular Title | Frasier-Syndrom: Ein seltenes Syndrom mit WT1-Genmutation in der Kinderurologie. |
PMID | 16440249
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Carrier Proteins
- Cell Cycle Proteins
- DNA-Binding Proteins
- Nuclear Proteins
- RNA Splice Sites
- RNA Splicing Factors
- WTAP protein, human
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Topics |
- Adolescent
- Adult
- Atrophy
- Carrier Proteins
(genetics)
- Cell Cycle Proteins
- Child
- DNA Mutational Analysis
- DNA-Binding Proteins
(genetics)
- Female
- Frasier Syndrome
(genetics)
- Germ-Line Mutation
- Glomerulosclerosis, Focal Segmental
(genetics)
- Humans
- Introns
- Kidney Failure, Chronic
(genetics)
- Male
- Nuclear Proteins
(genetics)
- Phenotype
- RNA Splice Sites
(genetics)
- RNA Splicing Factors
- Testis
(pathology)
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