Frasier syndrome, a potential cause of end-stage renal failure in childhood View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2010-03

AUTHORS

Manon Bache, Céline Dheu, Bérénice Doray, Hélène Fothergill, Sylvie Soskin, Françoise Paris, Charles Sultan, Michel 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 transplantation at a very young age. More... »

PAGES

549-552

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00467-009-1343-2

DOI

http://dx.doi.org/10.1007/s00467-009-1343-2

DIMENSIONS

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PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/19921279


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