Use this url to cite publication: https://hdl.handle.net/20.500.12512/91085
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WT1 gene mutation c.1422delA resulting in Frasier syndrome / Jurate Masalskiene, Laimutis Kucinskas, Ramunas Janavicius, Egle Gineikiene, Birute Pundziene
Type of publication
Konferencijų tezės nerecenzuojamame leidinyje / Conference theses in non-peer-reviewed publication (T2)
Author(s)
Janavičius, Ramūnas | Viešoji įstaiga Vilniaus universiteto ligoninės Santariškių klinikos | |
Gineikienė, Eglė | Viešoji įstaiga Vilniaus universiteto ligoninės Santariškių klinikos | |
Title
WT1 gene mutation c.1422delA resulting in Frasier syndrome / Jurate Masalskiene, Laimutis Kucinskas, Ramunas Janavicius, Egle Gineikiene, Birute Pundziene
Publisher (trusted)
Children's Hospital of Fudan University. The Chinese Society of Pediatric Nephrology |
Date Issued
Date Issued |
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2013-08-30 |
Extent
1 skelb., no. P-SAT238 #238.
Is part of
IPNA 2013 – The Sixteenth congress of the Interanational pediatric nephrology association [elektroninis išteklius – CD-ROM] : Abstracts : August 30-September 3, 2013, Shanghai, China / Scientific committee: Isidro B. Salusky [et al.] ; Interanational Pediatric Nephrology Association (IPNA). Children's Hospital of Fudan University. The Chinese Society of Pediatric Nephrology. Shanghai : Children's Hospital of Fudan University. The Chinese Society of Pediatric Nephrology, 2013.
Version
Originalus / Original
Series/Report no.
Nephrotic syndrome Genetics.
Field of Science
Abstract
Objective: Frasier syndrome (FS) is characterized by steroid resistant nephrotic syndrome and progressing renal disease because of focal and segmental glomerular sclerosis (FSGS) pending the end-stage renal failure (ESRF). Individual with a 46,XY karyotype have undermasculinized external genitalia and are at increased risk of gonadoblastoma. The syndrome is caused by the point mutation in the Wilms tumor gene (WT1) intron 9 splice donor site. The mutations responsible for FS are substitutions causing abnormal +KTS/-KTS isoforms ratio. We present a patient with the new type of the mutation which could be the reason of FS. Methods: An 8-year-old girl was suspected to have FS by clinical symptoms. Molecular genetic analysis was made to confirm the diagnosis. Results: The girl was referred to the Department of Pediatric Nephrology because of proteinuria, hypertension, pruritus and episodic vomiting for sixmonths. The clinical diagnosis of glomerulonephritis wasmade. Focal segmental glomerulosclerosis (FSGS) was detected after histological assessment of the renal biopsy. Prednisone treatment appeared to be ineffective and hemodialysis was started because of ESRF. The detailed anamnesis revealed the fact that the patient had the disorder of sexual differentiation (DSD) and suspected FS led to the analysis of the WT1 gene mutations. Clinical FS diagnosis was confirmed by the detection a c.1422delA mutation in 8 exon of WT1 gene.
Type of document
type::text::conference output::conference proceedings::conference paper
Other Identifier(s)
(LSMU ALMA)990000829170107106
Coverage Spatial
Kinija / China (CN)
Language
Anglų / English (en)
Affiliation(s)