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

• Published in: Pediatric nephrology (Berlin, West) Vol. 25; no. 3; pp. 549 - 552
• Main Authors: Bache, Manon, Dheu, Céline, Doray, Bérénice, Fothergill, Hélène, Soskin, Sylvie, Paris, Françoise, Sultan, Charles, Fischbach, Michel
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer-Verlag 01.03.2010; Springer; Springer Nature B.V
• Subjects: Brief Report; Child; Disorders of Sex Development - genetics; Disorders of Sex Development - surgery; Family medical history; Female; Frasier Syndrome - complications; Frasier Syndrome - genetics; Humans; Hypertension; Kidney failure; Kidney Failure, Chronic - etiology; Kidney Failure, Chronic - genetics; Kidney Failure, Chronic - therapy; Kidney Function Tests; Kidney Transplantation; Kidneys; Lymphocytes - chemistry; Medicine; Medicine & Public Health; Mutation - physiology; Nephrology; Orchiectomy; Pediatrics; Renal Dialysis; Reverse Transcriptase Polymerase Chain Reaction; Transplants & implants; Urology; WT1 Proteins - genetics; Frasier syndrome; Transplantation; gene; Glomerular sclerosis; Male pseudohermaphroditism; End-stage renal failure
• ISSN: 0931-041X; 1432-198X
• DOI: 10.1007/s00467-009-1343-2

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.