Evolutive study of children with diffuse mesangial sclerosis

Pediatric Nephrology

Volumn 24, Issue 5, 2009, Pages 1013-1019

  Nso Roca, Ana Pilar ^a   Peña Carrión, Antonia ^a   Benito Gutiérrez, Marta ^a   García Meseguer, Carmen ^a   García Pose, Araceli ^a   Navarro, Mercedes ^a  

^a HOSPITAL INFANTIL LA PAZ   (Spain)

Author keywords

Denys Drash syndrome; Diffuse mesangial sclerosis; Renal failure; Wilms' tumor WT1

Indexed keywords

WT1 PROTEIN;

ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DENYS DRASH SYNDROME; DISEASE COURSE; DISEASE PREDISPOSITION; DISEASE SEVERITY; FEMALE; FRASIER SYNDROME; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; INFANT; KARYOTYPE; KIDNEY DISEASE; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MALE; MESANGIUM SCLEROSIS; MORTALITY; NEPHRECTOMY; ONSET AGE; OUTCOME ASSESSMENT; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; PROTEINURIA; RELAPSE; RETROSPECTIVE STUDY; SEPSIS; SURVIVAL RATE;

CHILD, PRESCHOOL; COHORT STUDIES; DENYS-DRASH SYNDROME; DIAGNOSIS, DIFFERENTIAL; DISEASE PROGRESSION; FEMALE; FRASIER SYNDROME; GLOMERULAR MESANGIUM; HUMANS; INFANT; INFANT, NEWBORN; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MALE; NEPHROSCLEROSIS; NEPHROTIC SYNDROME; RETROSPECTIVE STUDIES; SURVIVAL RATE;

EID: 63649088943     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-008-1063-z     Document Type: Article

References (34)

1. Ito S, Takata A, Hataya H, Ikeda M, Kikuchi H, Hata J, Honda M (2001) Isolated diffuse mesangial sclerosis and Wilms tumor suppressor gene. J Pediatr 138:425-427
2. Habib R, Bois E (1973) Heterogeneity of early onset nephrotic syndromes in infants (nephrotic syndrome "in infants"). Anatomical, clinical and genetic study of 37 cases. Helv Paediatr Acta 29:91-107
3. Heathcott RW, Morison IM, Gubler MC, Corbett R, Reeve AE (2002) A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X. Hum Mutat 19:462
4. Garcia-Torres R, Braun G, Ramon G (1992) Drash's syndrome and its variants. A report of 3 cases. Bol Med Hosp Infant Mex 49:372-379
5. Gallo GE, Chemes HE (1987) The association of Wilms' tumor, male pseudohermaphroditism and diffuse glomerular disease (Drash syndrome): report of eight cases with clinical and morphologic findings and review of the literature. Pediatr Pathol 7:175-189
6. Swiatecka-Urban A, Mokrzycki MH, Kaskel F, Da Silva F, Denamur E (2001) Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome. Pediatr Nephrol 16:627-630
7. Melocoton TL, Salusky IB, Hall TR, Cohen AH, Ehrlich RM, Fine RN (1991) A case report of Drash syndrome in a 46,XX female. Am J Kidney Dis 18:503-508
8. McTaggart SJ, Algar E, Chow CW, Powell HR, Jones CL (2001) Clinical spectrum of Denys-Drash and Frasier syndrome. Pediatr Nephrol 16:335-339
9. Call KM, Glaser T, Ito CY, Buckler AJ, Pelletier J, Haber DA, Rose EA, Kral A, Yeger H, Lewis WH, Jones C, Housman DE (1990) Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus. Cell 60:509-520
10. Gessler M, Poustka A, Cavenee W, Neve RL, Orkin SH, Bruns GA (1990) Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping. Nature 343:774-778
11. Muñoz-Chápuli R, Carmona R, González-Iriarte M, Macías D, Pérez-Pomares J (2003) Las múltiples caras del gen WT1: Funciones en el desarrollo e implicaciones clínicas. Acta Pediatr Méx 24:29-38
12. Morrison AA, Viney RL, Saleem MA, Ladomery MR (2008) New insights into the function of the Wilms tumor suppressor gene WT1 in podocytes. Am J Physiol Renal Physiol 295:F12-F17
13. Jeanpierre C, Denamur E, Henry I, Cabanis MO, Luce S, Cecille A, Elion J, Peuchmaur M, Loirat C, Niaudet P, Gubler MC, Junien C (1998) Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. Am J Hum Genet 62:824-833
14. Schumacher V, Scharer K, Wuhl E, Altrogge H, Bonzel KE, Guschmann M, Neuhaus TJ, Pollastro RM, Kuwertz-Broking E, Bulla M, Tondera AM, Mundel P, Helmchen U, Waldherr R, Weirich A, Royer-Pokora B (1998) Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. Kidney Int 53:1594-1600
15. Fukuzawa R, Sakamoto J, Heathcott R, Hata J (2002) A necropsy case of Denys-Drash syndrome with a mutation in exon 7 WT1. J Med Genet 39:48-50
16. National High Blood Pressure Education Program Working Group on High Blood Pressure in Children and Adolescents (2004) The Fourth Report on the Diagnosis, Evaluation, and Treatment of High Blood Pressure in Children and Adolescents. Pediatrics 114:555-576
17. Niaudet P, Gubler MC (2006) WT1 and glomerular diseases. Pediatr Nephrol 21:1653-1660
18. Yamamoto K, Santo Y, Satomura K (2003) A case of Denys-Drash syndrome with prophylactic bilateral nephrectomy. Nippon Jinzo Gakkai Shi 45:42-46
19. Rodríguez F (2000) Disgenesias gonadales. In: Tratado de endocrinología pediátrica y de la adolescencia. Madrid, pp 797-818
20. Jadresic L, Leake J, Gordon I, Dillon MJ, Grant DB, Pritchard J, Risdon RA, Barratt TM (1990) Clinicopathologic review of twelve children with nephropathy, Wilms tumor, and genital abnormalities (Drash syndrome). J Pediatr 117:717-725
21. Kist-van Holthe JE, Ho PL, Stablein D, Harmon WE, Baum MA (2005) Outcome of renal transplantation for Wilms' tumor and Denys-Drash syndrome: A report of the North American Pediatric Renal Transplant Cooperative Study. Pediatr Transplant 9:305-310
22. Stallmach T, Neuhaus TJ, Kosters R, Hailemariam S (1998) Glomerulopathy in Denys-Drash syndrome. Case report of a model disease. Pathologe 19:230-234
23. Auber F, Lortat-Jacob S, Sarnacki S, Jaubert F, Salomon R, Thibaud E, Jeanpierre C, Nihoul-Fekete C (2003) Surgical management and genotype/ phenotype correlations in WT1 gene-related diseases (Drash, Frasier syndromes). J Pediatr Surg 38:124-129
24. Hahn H, Cho YM, Park YS, You HW, Cheong HI (2006) Two cases of isolated diffuse mesangial sclerosis with WT1 mutations. J Korean Med Sci 21:160-164
25. Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, Nurnberg G, Garg P, Verma R, Chaib H, Hoskins BE, Ashraf S, Becker C, Hennies HC, Goyal M, Wharram BL, Schachter AD, Mudumana S, Drummond I, Kerjaschki D, Waldherr R, Dietrich A, Ozaltin F, Bakkaloglu A, Cleper R, Basel-Vanagaite L, Pohl M, Griebel M, Tsygin AN, Soylu A, Muller D, Sorli CS, Bunney TD, Katan M, Liu J, Attanasio M, O'Toole JF, Hasselbacher K, Mucha B, Otto EA, Airik R, Kispert A, Kelley GG, Smrcka AV, Gudermann T, Holzman LB, Nurnberg P, Hildebrandt F (2006) Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet 38:1397-1405
26. Gbadegesin R, Hinkes BG, Hoskins BE, Vlangos CN, Heeringa SF, Liu J, Loirat C, Ozaltin F, Hashmi S, Ulmer F, Cleper R, Ettenger R, Antignac C, Wiggins RC, Zenker M, Hildebrandt F (2008) Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). Nephrol Dial Transplant 23:1291-1297
27. Barbaux S, Niaudet P, Gubler MC, Grunfeld JP, Jaubert F, Kuttenn F, Fekete CN, Souleyreau-Therville N, Thibaud E, Fellous M, McElreavey K (1997) Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet 17:467-470
28. Gwin K, Cajaiba MM, Caminoa-Lizarralde A, Picazo ML, Nistal M, Reyes-Mugica M (2008) Expanding the clinical spectrum of Frasier syndrome. Pediatr Dev Pathol 11:122-127
29. Denamur E, Bocquet N, Baudouin V, Da Silva F, Veitia R, Peuchmaur M, Elion J, Gubler MC, Fellous M, Niaudet P, Loirat C (2000) WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis. Kidney Int 57:1868-1872
30. Jensen JC, Ehrlich RM, Hanna MK, Fine RN, Grunberger I (1989) A report of 4 patients with the Drash syndrome and a review of the literature. J Urol 141:1174-1176
31. Habib R, Gubler MC, Antignac C, Loirat C, Gangnadoux MF (1990) Congenital or childhood nephrotic syndrome with diffuse mesangial sclerosis. Ann Pediatr (Paris) 37:73-77
32. Coppes MJ, Liefers GJ, Higuchi M, Zinn AB, Balfe JW, Williams BR (1992) Inherited WT1 mutation in Denys-Drash syndrome. Cancer Res 52:6125-6128
33. Mueller RF (1994) The Denys-Drash syndrome. J Med Genet 31:471-477
34. Ozen S, Tinaztepe K (1996) Diffuse mesangial sclerosis: A unique type of congenital and infantile nephrotic syndrome. Nephron 72:288-291