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Abstract
Introduction: Wilm’s Tumor (WT) is the most common childhood kidney cancer. Whereas most WTs are isolated, approximately 5% are associated with Denys Drash syndrome, with additional manifestations such as early-onset nephrotic syndrome and disorders of sexual development.
Case: A 10 - month - old male child presented with abdominal pain. Computed tomography (CT) scan and laboratory tests showed he had bilateral Wilm’s tumor, nephrotic syndrome and left undescended testicle. Genetic test showed WT mutation. He was removed the right tumor and the right kidney. He is now receiving chemotherapy.
Conclusion: The genetic test revealed WT1 mutation which is compatible with Denys Drash Syndrome. This is a rare syndrome and has poor prognosis due to progress to kidney failure.
Keywords: Bilateral Wilms’ tumor, nephrotic syndrom, WT1 mutation
References
Leslie SW, Sajjad H, Murphy PB, Wilms Tumor, in
StatPearls. 2024: Treasure Island (FL) ineligible companies.
Disclosure: Hussain Sajjad declares no relevant financial
relationships with ineligible companies. Disclosure: Patrick
Murphy declares no relevant financial relationships with
ineligible companies.
Bruening W, Bardeesy N, Silverman BL, Cohn RA, Machin
GA, Aronson AJ, et al. Germline intronic and exonic
mutations in the Wilms’ tumour gene (WT1) affecting
urogenital development. Nat Genet. 1992;1(2):144-8.
Friedman AL, Finlay JL. The Drash syndrome revisited:
diagnosis and follow-up. Am J Med Genet Suppl.
;3:293-6.
Pelletier J, Bruening W, Kashtan CE, Mauer SM, Manivel
JC, Striegel JE, et al. Germline mutations in the Wilms’
tumor suppressor gene are associated with abnormal
urogenital development in Denys-Drash syndrome. Cell.
;67(2):437-47.
Lipska-Zietkiewicz BS, WT1 Disorder, in GeneReviews((R)),
M.P. Adam, et al., Editors. 1993: Seattle (WA).
Coppes MJ, Huff V, Pelletier J. Denys-Drash syndrome: relating a clinical disorder to genetic
alterations in the tumor suppressor gene WT1. J Pediatr. 1993;123(5):673-8.
Gariepy-Assal L, Gilbert RD, Ziaugra A, Foster BJ.
Management of Denys-Drash syndrome: A case series
based on an international survey. Clin Nephrol Case Stud.
;6:36-44.
Torban E, Goodyer P. Wilms’tumor gene 1: lessons from
the interface between kidney development and cancer. Am
J Physiol Renal Phisiol. 2024;1(326):F3-F19.
Roca N, Munoz M, Cruz A, Vilalta R, Lara E, Ariceta
G. Long-term outcome in a case series of Denys-Drash
syndrome. Clin Kidney J. 2019;12(6):836-839.
Uschkereit C, Perez N, de Torres C, Kuff M, Mora J, RoyerPokora B. Different CTNNB1 mutations as molecular
genetic proof for the independent origin of four Wilms
tumours in a patient with a novel germ line WT1 mutation.
J Med Genet. 2007;44(6):393-6.
Lipska-Zietkiewicz BS, Genetic Steroid-Resistant
Nephrotic Syndrome Overview, in GeneReviews((R)),
M.P. Adam, et al., Editors. 1993: Seattle (WA).
| Published | 30-12-2024 | |
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| Issue | Vol. 16 No. 6 (2024) | |
| Section | Case report | |
| DOI | 10.38103/jcmhch.16.6.5 | |
| Keywords | Từ khóa: U Wilms hai bên, hội chứng thận hư, đột biến WTs. |
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