The clinical, pathological and pathogenic gene characteristics of Frasier syndrome: a case report

  • 梁芳芳,彭 程,黄艳艳,等
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  • 1.Department of Rheumatology and Immunology, Shenzhen Children's Hospital, Shenzhen 518026, Guangdong, China; 2.Department of Radiology, Shenzhen Third People's Hospital, Shenzhen 518020, Guangdong, China

Online published: 2019-03-25

Abstract

 Objective To analyze the clinicopathological and pathogenic gene characteristics of Frasier syndrome. Method The clinicopathological features, genetic testing results and diagnosis and treatment of Frasier syndrome in a child were retrospectively analyzed, and related literature was reviewed. Results The child had external female genitalia, with a 46, XY karyotype, and suffered from gonadal dysplasia (bilateral ovaries were not developed). The age at onset of nephropathy was 6 years old, and hormone therapy was ineffective. The child was treated with tacrolimus and rituximab successively. Although the serum albumin and cholesterol levels were improved and the renal function was normal, the urinary protein could not turn negative. Kidney biopsy revealed focal segmental glomerulosclerosis, a non-specific type with partial glomerulosclerosis. No gonadal tumors or Wilms tumors were found. Splice mutation of c.1432+5G>A in exon 9 of WT1 gene was detected by gene analysis, which was a spontaneous mutation and was reported to be associated with the pathogenesis of Frasier syndrome. Conclusion The clinical manifestations of Frasier syndrome are mainly progressive nephropathy, male pseudohermaphroditism and genitourinary malformation. It is related to WT1 gene mutation.

Cite this article

梁芳芳,彭 程,黄艳艳,等 . The clinical, pathological and pathogenic gene characteristics of Frasier syndrome: a case report[J]. Journal of Clinical Pediatrics, 2019 , 37(3) : 215 . DOI: 10.3969/j.issn.1000-3606.2019.03.014

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