Frasier syndrome diagnosed in a 4-year-old girl
| Autor: | Biljana Milosevic, Radovan Bogdanovic, Mirjana Kostic, Vesna Stojanović |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
rare mutation
Pediatrics medicine.medical_specialty Pathology post-transplantation lymph-proliferative disease medicine.diagnostic_test business.industry media_common.quotation_subject Gonadal dysgenesis General Medicine Disease medicine.disease Frasier syndrome frasier syndrome Transplantation Focal segmental glomerulosclerosis Liver biopsy Medicine Girl business Nephrotic syndrome media_common |
| Zdroj: | Open Medicine, Vol 7, Iss 2, Pp 142-144 (2012) |
| ISSN: | 2391-5463 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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