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Frasier Syndrome

Frasier's Syndrome


Presentation

  • We present the clinicopathological findings in 4 patients: 3 phenotypically female adolescents presenting with proteinuria and primary amenorrhea and a 6-month-old baby girl presenting with nephrotic syndrome in whom this very unusual case of early onset[ncbi.nlm.nih.gov]
Failure to Thrive
  • […] to thrive, facial dysmorphism, ambiguous, genitalia, syndactyly, postaxial polydactyly, Hirschprung disease, cardiac and renal malformations Autosomal recessive Rutledge 73 Joint contractures, cerebellar hypoplasia, renal hypoplasia, ambiguous genitalia[glowm.com]
Tachycardia
  • […] leukodystrophyRVCL 192315 TREX1 606609 7 VATER association with macrocephaly and ventriculomegalyVACTERL-H 276950 PTEN 601728 7 Velocardialfacial syndromeVCFS 192430 22q11.2 188400 7 Ventricular fibrillation, familial, 1VF1 603829 SCN5A 600163 7 Ventricular tachycardia[diagenos.com]
Neglect
  • This very rare case illustrates the natural course of FS over many years due to the neglect by the patient to address his need for follow-up, while adding further data on the spectrum of FS phenotypes associated with IVS9 4 C T mutations.[ncbi.nlm.nih.gov]
Kidney Failure
  • Characteristic features are mesangial sclerosis with early kidney failure, varying degrees of gonadal dysgenesis and high risk of Wilms' tumors.[ncbi.nlm.nih.gov]
  • In people with Frasier syndrome, this condition often leads to kidney failure by adolescence.[ghr.nlm.nih.gov]
  • A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype.[connects.catalyst.harvard.edu]
Primary Amenorrhea
  • The investigations for primary amenorrhea revealed a hypergonadotropic hypogonadism associated with 46 XY karyotype. The association of primary amenorrhea with renal failure suggested Frasier syndrome (FS) or Denys-Drash syndrome (DDS).[ncbi.nlm.nih.gov]
Absent Kidney
  • The crucial role of WT1 function in urogenital development is emphasised by the WT1 knockout mouse, where homozygous inactivation of WT1 causes absent kidneys and malformation of the gonads. 19 To date, WT1 remains the principal gene to be associated[adc.bmj.com]

Workup

Liver Biopsy
  • The liver biopsy revealed a post-transplantation lymph-proliferative disease. Keywords: Frasier syndrome ; Rare mutation ; Post-transplantation lymph-proliferative disease [1] McTaggart J, Algar E, Chow CW, Powell HR, Jones CL.[degruyter.com]

Treatment

  • Thus, this combination might be the initial treatment of patients with FS.[ncbi.nlm.nih.gov]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]

Prognosis

  • Clinical classification remains important for prognosis, as the underlying renal disease appears to predict the progression of nephropathy independently of the genetic abnormality.[ncbi.nlm.nih.gov]
  • Prognosis - Frasier syndrome Not supplied. Treatment - Frasier syndrome Fragile X syndrome is an X-linked condition that doesn\'t follow a simple X-linked inheritance pattern. The normal sequence of the FMR1 gene was identified at Xq27.3 in 1991.[checkorphan.org]
  • The occurrence of germ cell neoplasia in FS patients can affect their prognosis. However, there is no evidence that FS-associated germ cell tumors have a different clinical outcome in comparison with sporadic tumors.[atlasgeneticsoncology.org]
  • The majority of patients with NS respond to steroid therapy and have a good clinical prognosis.[cyberleninka.org]

Etiology

  • Etiology Heterozygous mutations in the WT1 gene have been found in women affected by Frasier syndrome. The WT1 gene contains 10 exons and codes for a zinc-finger DNA -binding protein.[rarediseases.info.nih.gov]
  • […] nonspecific focal and segmental glomerulosclerosis (FSGS) tumoral predisposition gonadoblastoma in situ early gonadoblastoma ( 17101338, 20419325, 19653292 ) bilateraal gonadoblastoma ( 19653292 ) seminoma/dys germinoma ( 17101338, 20408995, 19653292 ) Etiology[humpath.com]
  • The etiology and pathogenesis of DMS is not understood, but the three mutations described in this glomerular disease involve the genes WT1, LAMB2 or PLCE1. Mutations in PLCE1 have been associated to isolated DMS.[kidneypathology.com]
  • The etiology of minimal change nephrotic syndrome is unknown.[clinicaladvisor.com]
  • American Journal of Medical Genetics Part A , 2009 , 149A , 10, 2241 Wiley Online Library 6 Cornelia Beck , Özkan Alkasi , Werner Nikischin , Sylvia Engler , Almut Caliebe , Ivo Leuschner , Constantin S. von Kaisenberg , Congenital diaphragmatic hernia, etiology[onlinelibrary.wiley.com]

Epidemiology

  • Epidemiology Prevalence of this rare disease is unknown. Clinical description Patients with Frasier syndrome present with normal female external genitalia and streak gonads, and have a 46,XY karyotype.[rarediseases.info.nih.gov]
  • Epidemiology of Wilms tumor. Med. Pediatr. Oncol. 1993; 21(3):172-81. PMID: 7680412 Miller, RW, et al. Childhood cancer. Cancer. 1995; 75(1 Suppl):395-405. PMID: 8001010 Ezaki, J, et al.[invitae.com]
  • Epidemiology BOR syndrome affects about 1 in 40,000 people. Diagnosis A family history positive for brachial, otologic, and renal malformations is suggestive of BOR syndrome.[medicine.uiowa.edu]
  • Tourette’s disorder: epidemiology and comorbidity in primary school children. J Am Acad Child Adolesc Psychiatry 2000;39:548-55. Sukhodolsky DG, Scahill L, Zhang H, et al.[imic.or.jp]
  • Fraser syndrome: epidemiological study in a European population. Am J Med Genet A. 2013 May;161A(5):1012-8. doi: 10.1002/ajmg.a.35839. Epub 2013 Mar 26.[ghr.nlm.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine.[books.google.com]
  • PMID 3130865 Wilms' tumor suppressor gene WT1: from structure to renal pathophysiologic features. Mrowka C, Schedl A Journal of the American Society of Nephrology : JASN. 2000 ; 11 Suppl 16 : S106-S115.[atlasgeneticsoncology.org]
  • Pathophysiology Testicular Feminizing Syndrome Androgen Insensitivity Androgen receptor mutations 7. Androgen receptor Gene/locus:AR(Xq11-q12). 8.[slideshare.net]
  • Pathophysiology Denys-Drash syndrome is the result of mutations in the WT1 gene on chromosome band 11p13. [2, 3, 4, 5] The WT1 gene contains 10 exons that produce 4 different messenger RNAs (mRNAs) as a result of 2 alternative splicing sites in exons[emedicine.medscape.com]

Prevention

  • Early prophylactic resection of dysgenetic gonads, such as was undertaken in this patient, is indicated in children with Frasier syndrome to prevent the development of germ cell tumors.[ncbi.nlm.nih.gov]
  • Prevention - Frasier syndrome Not supplied. Diagnosis - Frasier syndrome Not supplied. Prognosis - Frasier syndrome Not supplied.[checkorphan.org]

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