Association of partial gonadal dysgenesis, nephropathy and WTI gene mutation without Wilms' tumor: Incomplete Denys-Drash syndrome

Journal of Pediatric Endocrinology and Metabolism

Volumn 14, Issue 5, 2001, Pages 561-564

  Çetinkaya, Ergun ^a   Öcal, Gönül ^a   Berberoǧlu, Merih ^a   Adiyaman, Pelin ^a   Ekim, Mesiha ^a   Yalçinkaya, Fatoş ^a   Örün, Emel ^a  

^a NONE

Author keywords

Denys Drash syndrome; WTI mutations

Indexed keywords

GENE PRODUCT; UNCLASSIFIED DRUG; WT1 PROTEIN;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DENYS DRASH SYNDROME; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; GENE MUTATION; GONADAL DYSGENESIS; HUMAN; INFANT; KIDNEY DISEASE; MALE; MALE PSEUDOHERMAPHRODITISM; NEPHRECTOMY; NEPHROBLASTOMA; TUMOR SUPPRESSOR GENE;

CHILD; GENES, WILMS TUMOR; GONADAL DYSGENESIS; HUMANS; KIDNEY DISEASES; MALE; MUTATION; PSEUDOHERMAPHRODITISM; SYNDROME;

EID: 0342902245     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. Denys P, Malvaux P, Van den Berghe H, Tangue W, Proesmans W. Association d'un syndrome anatomopathologique de pseudohermaphrodisme masculin, d'une tumeur de Wilms, d'une nephropathie parenchymateuse et d'un mosaicism XX/XY. Arch Fr Pediatr 1967; 24: 729-739.
2. Drash A, Sherman F, Hartmann WH, Blizzard RM. A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease. J Pediatr 1970; 76: 585-593.
3. Heppe KR, Koyle AM, Beckwith B. Nephrogenic rests in Wilms' tumor patients with the Drash syndrome. J Urol 1991; 145: 1225-1228.
4. Jadresic L, Leake J, Gordon I, Grant DB, Pritchard J, Risdon RA, Barratt TM. Clinicopathologic review of twelve children with nephropathy, Wilms' tumor, and genital abnormalities (Drash syndrome). J Pediatr 1990; 117: 717-725.
5. Rapola J, Huttunen NP, Hallman N. Congenital and infantile nephrotic syndrome. In: Edelman CM, ed. Pediatric Kidney Disease. Boston, MA: Little, Brown and Co., 1992; 1291-1305.
6. Eddy AA, Mauer SM. Pseudohermaphroditism, glomerulopathy, and Wilms' tumor (Drash syndrome): Frequency in end-stage renal failure. J Pediatr 1985; 106: 584-587.
7. Tmaztepe K. Konjenital ve infantil nefrotik sendrom. Çocuk Saǧliǧi ve Hastaliklari Dergisi 1995; 38: 407-425.
8. st year of life. Pediatr Nephrol 1993; 7: 347-353.
9. Kohler B, Schumacher V, Schulte-Overberg U, Biewald W, Lennert T, l'Allemand D, Royer-Pokora B, Grüters A. Bilateral Wilms tumor in a boy with severe hypospadias and cryptochidism due to a heterozygous mutation in the WT1 gene. Pediatr Res 1999; 45: 187-190.
10. Little M, Wells C. A clinical overview of WT1 gene mutations. Hum Mutat 1997; 9: 209-225.
11. Tsuda M, Sakiyama T, Owada M, Chiba Y. A newly idendified exonic mutation of the WT1 gene in a patient with Denys-Drash syndrome. Acta Paediatr Jpn 1996; 38: 265-266.
12. Jeanpierre C, Denamur E, Henry I, Cabanis MO, Luce S, Cecille A, Elion J, Peuchmaur M, Loirat C, Niaudet P, Gubler MC, Junien C. Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerised mutation database. Am J Hum Genet 1998; 62: 824-833.
13. Huff V. Genotype/phenotype correlations in Wilms' tumor. Med Pediatr Oncol 1996; 27: 408-414.