Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect

Pediatric Nephrology

Volumn 21, Issue 12, 2006, Pages 1909-1912

  Cho, Hee Yeon ^a   Lee, Byong Sop ^a   Kang, Chang Hyun ^b   Kim, Woong Han ^b   Ha, Il Soo ^a   Cheong, Hae Il ^a   Choi, Young ^a  

^a Seoul National University Children's Hospital   (South Korea)

^b Seoul National University Hospital   (South Korea)

Author keywords

Denys Drash syndrome; Diaphragmatic defect; Meacham syndrome; WT1

Indexed keywords

CAPTOPRIL; GENOMIC DNA; PREDNISOLONE;

ANURIA; ARTICLE; CASE REPORT; CHRONIC KIDNEY FAILURE; CLINICAL FEATURE; CONGENITAL NEPHROTIC SYNDROME; CONSERVATIVE TREATMENT; DENYS DRASH SYNDROME; DIAPHRAGM DISEASE; DIARRHEA; DISEASE COURSE; DNA EXTRACTION; FEMALE; HEMODIALYSIS; HOSPITAL ADMISSION; HUMAN; HYDROTHORAX; HYPERTENSION; KIDNEY BIOPSY; KIDNEY TRANSPLANTATION; KOREA; LABORATORY TEST; MISSENSE MUTATION; OUTCOME ASSESSMENT; PATIENT REFERRAL; PERITONEAL DIALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE; UROGENITAL TRACT MALFORMATION; VOMITING;

AMINO ACID SUBSTITUTION; DENYS-DRASH SYNDROME; DIAPHRAGM; FEMALE; HUMANS; HYDROTHORAX; INFANT; INFANT, NEWBORN; MUTATION, MISSENSE; WT1 PROTEINS;

EID: 33750975882     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-006-0273-5     Document Type: Article

References (23)

1. Armstrong JF, Pritchard-Jones K, Bickmore WA, Hastie ND, Bard JB (1992) The expression of the Wilms' tumour gene, WT1, in the developing mammalian embryo. Mech Dev 40:85-97
2. Pritchard-Jones K, Fleming S, Davidson D, Bickmore W, Porteus D, Gosden C, Bard J, Buckler A, Pelletier J, Housman D (1990) The candidate Wilms' tumor gene is involved in genitourinary development. Nature 346:194-197
3. Kreidberg JA, Sariola H, Loring JM, Maeda M, Pelletier J, Housman D, Jaenisch R (1993) WT-1 is required for early kidney development. Cell 74:679-691
4. Bruening W, Bardeesy N, Silverman BL, Cohn RA, Machin GA, Aronson AJ, Housman D, Pelletier J (1992) Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. Nat Genet 1:144-148
5. Little M, Wells C (1997) A clinical overview of WT1 gene mutations. Hum Mutat 9:209-225
6. Baird PN, Santos A, Groves N, Jadresic L, Cowell JK (1992) Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome. Hum Mol Genet 1:301-305
7. Barbaux S, Niaudet P, Gubler M-C, Grunfeld J-P, 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
8. Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M (2005) WAGR syndrome: A clinical review of 54 cases. Pediatrics 116:984-988
9. Scott DA, Cooper ML, Stankiewicz P, Patel A, Potocki L, Cheung SW (2005) Congenital diaphragmatic hernia in WAGR syndrome. Am J Med Genet A134:430-433
10. Gustavson K-H, Anneren G, Wranne L (1984) Two cases of 11p13 interstitial deletion and unusual clinical features. Clin Genet 26:247-249
11. Devriendt K, Deloof E, Moerman P, Legius E, Vanhole C, de Zegher F, Proesmans W, Devlieger H (1995) Diaphragmatic hernia in Denys-Drash syndrome. Am J Med Genet 57:97-101
12. Denamur E, Bacquet 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
13. Klaassens M, van Dooren M, Eussen HJ, Douben H, den Dekker AT, Lee C, Donahoe PK, Galjaard RJ, Goemaere N, de Krijger RR, Wouters C, Wauters J, Oostra BA, Tibboel D, de Klein A (2005) Congenital diaphragmatic hernia and chromosome 15q26: Determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization. Am J Hum Genet 76:877-882
14. Pober BR, Lin A, Russell M, Ackerman KG, Chakravorty S, Strauss B, Westgate MN, Wilson J, Donahoe PK, Holmes LB (2005) Infants with Bochdalek diaphragmatic hernia: Sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program. Am J Med Genet A138:81-88
15. Reardon W, Smith S, Suri M, Grant J, O'Neill D, Kelehan D, Fitzpatrick D, Hastie ND (2004) WT1 mutation is a cause of congenital diaphragmatic hernia associated with Meacham syndrome. Presented at the annual meeting of the American Society of Human Genetics, October 26-30, 2004. Toronto, Ontario
16. Meacham LR, Winn KJ, Culler FL, Parks JS (1991) Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype. Am J Med Genet 41:478-481
17. Toriello HV, Higgins JV (1991) Report of another child with sex reversal and cardiac, pulmonary, and diaphragm defects. Am J Med Genet 44:252 (Letter)
18. Masswinkel-Mooji PD, Stokvis-Brantsma WH (1992) Phenotypically normal girl with male pseudohermaphroditism, hypoplastic left ventricle, lung aplasia, horseshoe kidney, and diaphragmatic hernia. Am J Med Genet 42:647-648
19. Killeen OG, Kelehan P, Reardon W (2002) Double vagina with sex reversal, congenital diaphragmatic hernia, pulmonary and cardiac malformations-another case of Meacham syndrome. Clin Dysmorphol 11:25-28
20. Park S, Schalling M, Bernard A, Maheswaran S, Shipley GC, Roberts D, Fletcher J, Shipman R, Rheinwald J, Demetri G, Griffin J, Minden M, Housman DE, Haber DA (1993) The Wilms tumour gene WT1 is expressed in murine mesoderm-derived tissues and mutated in a human mesothelioma. Nat Genet 4:415-420
21. Ordóñez NG (2005) Immunohistochemical diagnosis of epithelioid mesothelioma. An update. Arch Pathol Lab Med 129:1407-1414
22. Nordenskjöld A, Tapper-Persson M, Anvret M (1996) No evidence of WT1 gene mutations in children with congenital diaphragmatic hernia. J Pediatr Surg 31:925-927
23. Dharnidharka VR, Ruteshouser EC, Rosen S, Kozakewich H, Harris HW Jr, Herrin JT, Huff V (2001) Pulmonary dysplasia, Denys-Drash syndrome and Wilms tumor 1 gene mutation in twins. Pediatr Nephrol 16:227-231