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2012 | 7 | 2 | 142-144
Tytuł artykułu

Frasier syndrome diagnosed in a 4-year-old girl

Treść / Zawartość
Warianty tytułu
Języki publikacji
EN
Abstrakty
EN
The authors present the case of a girl with Frasier syndrome that was diagnosed at the age of 4 years. At 3.5 years, she was diagnosed a steroid-resistant nephrotic syndrome associated with focal segmental glomerulosclerosis. The girl presented with female phenotype and male genotype (46XY) as well with gonadal dysgenesis. Genetic analysis confirmed the +2T>C mutation in the intron 9 of the WT1 gene. She developed end-stage renal disease at 14 years, culminating in renal transplantation. The liver biopsy revealed a post-transplantation lymph-proliferative disease.
Wydawca
Czasopismo
Rocznik
Tom
7
Numer
2
Strony
142-144
Opis fizyczny
Daty
wydano
2012-04-01
online
2012-02-03
Twórcy
  • Department of Nephrology, Institute for Child and Youth Health Care of Vojvodina, Hajduk Veljka 10., Novi Sad, Serbia
  • Department of Nephrology, Institute for Health Care of Mother and Child of Serbia, Radoja Dakića 8, Belgrade, Serbia
  • Department of Nephrology, University Children Hospital, Tiršova 10, Belgrade, Serbia
  • Department of Nephrology, Institute for Child and Youth Health Care of Vojvodina, Hajduk Veljka 10., Novi Sad, Serbia , vesnasto@eunet.rs
Bibliografia
  • [1] McTaggart J, Algar E, Chow CW, Powell HR, Jones CL. Clinical spectrum of Denys-Drash and Frasier syndrome. Pediatr Nephrol. 2001;16:335–339 http://dx.doi.org/10.1007/s004670000541[Crossref]
  • [2] Koziell A, Grundy R. Frasier and Denys-Drash syndromes: different disorders or part of a spectrum. Arch Dis Child. 1999;81:365–369 http://dx.doi.org/10.1136/adc.81.4.365[Crossref]
  • [3] Scott RH, Stiller CA, Walker L, Rahman N. Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour. J Med Genet. 2006;43:705–715 http://dx.doi.org/10.1136/jmg.2006.041723[Crossref]
  • [4] Morrison AA, Viney RL, Saleem MA, Ladomery MR. New insights into the function of the Wilms tumor suppressor gene WT1 in podocytes. Am J Physiol Renal Physiol. 2008; 295(1): F12–F17 http://dx.doi.org/10.1152/ajprenal.00597.2007[Crossref][WoS]
  • [5] Scharnhorst V, van der Eb AJ, Jochemsen AG. WT1 proteins: functions in growth and differentiation. Gene. 2001;273:141–161 http://dx.doi.org/10.1016/S0378-1119(01)00593-5[Crossref]
  • [6] Benz K, Plank C, Amann K, Mucha B, Dorr HG, Rascher W, et al. Hypergonadotropic hypogonadism and renal failure due to WT1 mutation. Nephrol Dial Transplant. 2006; 21:1716–1718 http://dx.doi.org/10.1093/ndt/gfl023[Crossref]
  • [7] Bonte A, Schroder W, Denamur E, Querfeld U. Absent pubertal development in a child with chronic renal failure: the case of Frasier syndrome. Nephrol Dial Transplant. 2000;15:1688–1690 http://dx.doi.org/10.1093/ndt/15.10.1688[Crossref]
  • [8] Ferrari A, Perotti D, Giardini R, Ghio L, Riva S, Massimino M. Disseminated Burkitts lymphoma after kidney transplantation:a case report in a boy with Drash syndrome. J pediatr Hematol Oncol. 1993;19:151–155 http://dx.doi.org/10.1097/00043426-199703000-00011[Crossref]
  • [9] Nocera A, Perotti D, Ghio L, Dell Amico R, Fontana I, Cardillo M, et al. De novo cancers in paediatric renal transplant recipients: a multicentre analysis within the North Italy Transplant programme (NITp), Italy. Europ J Cancer. 2000;36:80–86 http://dx.doi.org/10.1016/S0959-8049(99)00234-8[Crossref]
Typ dokumentu
Bibliografia
Identyfikatory
Identyfikator YADDA
bwmeta1.element.-psjd-doi-10_2478_s11536-011-0135-9
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