Frasier syndrome diagnosed in a 4-year-old girl

• Autorzy: Biljana Miloševic , Radovan Bogdanović , Mirjana Kostić , Vesna Stojanović
• Języki publikacji: EN

Abstrakty

EN

The authors present the case of a girl with Frasier syndrome that was diagnosed at the age of 4 years. At 3.5 years, she was diagnosed a steroid-resistant nephrotic syndrome associated with focal segmental glomerulosclerosis. The girl presented with female phenotype and male genotype (46XY) as well with gonadal dysgenesis. Genetic analysis confirmed the +2T>C mutation in the intron 9 of the WT1 gene. She developed end-stage renal disease at 14 years, culminating in renal transplantation. The liver biopsy revealed a post-transplantation lymph-proliferative disease.

Słowa kluczowe

EN

Frasier syndrome; Rare mutation; Post-transplantation lymph-proliferative disease

• Czasopismo: Open Medicine
• Rocznik: 2012
• Tom: 7
• Numer: 2
• Strony: 142-144

Daty

wydano

2012-04-01

online

2012-02-03

Twórcy

autor

Biljana Miloševic

• Department of Nephrology, Institute for Child and Youth Health Care of Vojvodina, Hajduk Veljka 10., Novi Sad, Serbia

autor

Radovan Bogdanović

• Department of Nephrology, Institute for Health Care of Mother and Child of Serbia, Radoja Dakića 8, Belgrade, Serbia

autor

Mirjana Kostić

• Department of Nephrology, University Children Hospital, Tiršova 10, Belgrade, Serbia

autor

Vesna Stojanović

• Department of Nephrology, Institute for Child and Youth Health Care of Vojvodina, Hajduk Veljka 10., Novi Sad, Serbia,

Bibliografia

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Identyfikatory

DOI

10.2478/s11536-011-0135-9