Frasier Syndrome, a Potential Cause of End-stage Renal Failure in Childhood

Overview

Journal Pediatr Nephrol

Specialties Nephrology
Pediatrics

Date 2009 Nov 19

PMID 19921279

Citations 5

Authors

Manon Bache

Celine Dheu

Berenice Doray

Helene Fothergill

Sylvie Soskin

Francoise Paris

Charles Sultan

Michel Fischbach

Affiliations

Soon will be listed here.

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.

Citing Articles

Spectrum of Clinical Manifestations in Children With : Case Series and Literature Review.

Arroyo-Parejo Drayer P, Seeherunvong W, Katsoufis C, DeFreitas M, Seeherunvong T, Chandar J Front Pediatr. 2022; 10:847295.

PMID: 35498778 PMC: 9051246. DOI: 10.3389/fped.2022.847295.

Systematic Review of Genotype-Phenotype Correlations in Frasier Syndrome.

Tsuji Y, Yamamura T, Nagano C, Horinouchi T, Sakakibara N, Ishiko S Kidney Int Rep. 2021; 6(10):2585-2593.

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Frasier Syndrome: A Rare Cause of Refractory Steroid-Resistant Nephrotic Syndrome.

Huang Y, Tsai M, Tsai C, Fu L Children (Basel). 2021; 8(8).

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Renal Syndromic Hearing Loss Is Common in Childhood-onset Chronic Kidney Disease.

Kim J, Lee D, Lee B, Lim S, Ahn Y, Kang H J Korean Med Sci. 2020; 35(44):e364.

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Tumors of bilateral streak gonads in patients with disorders of sex development containing y chromosome material.

Matsumoto F, Shimada K, Ida S Clin Pediatr Endocrinol. 2014; 23(3):93-7.

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