Frasier syndrome, a potential cause of end-stage renal failure in childhood.

Pediatric Nephrology : Journal of the International Pediatric Nephrology Association
Manon BacheMichel Fischbach

Abstract

The diagnosis of Frasier syndrome is based on the association of male pseudohermaphroditism (as a result of gonadal dysgenesis), with steroid-resistant nephrotic syndrome due to focal and segmental glomerular sclerosis (FSGS), which progresses to end-stage renal failure (ESRF) during adolescence or adulthood. Frasier syndrome results from mutations in the Wilms' tumour suppressor gene WT1, which is responsible for alterations in male genital development and podocyte dysfunction. We describe the case of a 7-year-old girl who was referred to the paediatric emergency department with ESRF. Haemodialysis was started immediately because of severe hypertension and hyperkalaemia. In view of the fact that our patient had a past medical history of pseudohermaphroditism, we suspected that the acute presentation in ESRF may be related to a new diagnosis of Frasier syndrome. Our hypothesis was confirmed on examination of the medical records. There had been no medical follow-up for several years and, in particular, no renal imaging or functional assessment had ever been performed. This lack of surveillance explains why our patient presented with ESRF much earlier in this disease than expected and subsequently had to undergo kidney transplant...Continue Reading

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Citations

Aug 12, 2014·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Fumi MatsumotoShinobu Ida
Jan 9, 2013·Arquivos brasileiros de endocrinologia e metabologia·Mara Sanches GuaragnaMaricilda Palandi De Mello
Nov 18, 2020·Journal of Korean Medical Science·Ji Hyun KimHae Il Cheong

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