دورية أكاديمية
أعرض في EDS

Prophylactic bilateral nephrectomy and preemptive kidney transplantation for Denys-Drash syndrome prior to development of kidney failure.

التفاصيل البيبلوغرافية
العنوان: Prophylactic bilateral nephrectomy and preemptive kidney transplantation for Denys-Drash syndrome prior to development of kidney failure.
المؤلفون: Hosokawa C; Department of Urology, Hokkaido University Hospital, Kita-14 Nishi-5 Kita-Ku, Sapporo, Hokkaido, 060-0814, Japan., Hotta K; Department of Urology, Hokkaido University Hospital, Kita-14 Nishi-5 Kita-Ku, Sapporo, Hokkaido, 060-0814, Japan. hotta1125@mac.com., Okamoto T; Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan., Cho Y; Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan., Hirose T; Department of Urology, Hokkaido University Hospital, Kita-14 Nishi-5 Kita-Ku, Sapporo, Hokkaido, 060-0814, Japan., Iwahara N; Department of Urology, Hokkaido University Hospital, Kita-14 Nishi-5 Kita-Ku, Sapporo, Hokkaido, 060-0814, Japan., Manabe A; Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan., Shinohara N; Department of Urology, Hokkaido University Hospital, Kita-14 Nishi-5 Kita-Ku, Sapporo, Hokkaido, 060-0814, Japan.
المصدر: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2024 Mar; Vol. 39 (3), pp. 905-909. Date of Electronic Publication: 2023 Aug 12.
نوع المنشور: Case Reports; Journal Article
اللغة: English
بيانات الدورية: Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE
أسماء مطبوعة: Publication: Berlin : Springer International
Original Publication: Berlin : Springer International, c1987-
مواضيع طبية MeSH: Denys-Drash Syndrome*/complications , Denys-Drash Syndrome*/genetics , Denys-Drash Syndrome*/surgery , Kidney Transplantation*/adverse effects , Wilms Tumor*/complications , Wilms Tumor*/surgery , Wilms Tumor*/genetics , Renal Insufficiency*/genetics , Kidney Neoplasms*/complications , Kidney Neoplasms*/surgery , Kidney Neoplasms*/genetics , Renal Insufficiency, Chronic*/genetics, Male ; Humans ; Child ; Genes, Wilms Tumor ; Nephrectomy/adverse effects ; Proteinuria/genetics ; WT1 Proteins/genetics
مستخلص: BACKGROUND  : Nephropathy in Denys-Drash syndrome (DDS) develops within a few months of birth, often progressing to kidney failure. Wilms tumors also develop at an early age with a high rate of incidence. When a patient does not have Wilms tumor but develops kidney failure, prophylactic bilateral nephrectomy, and kidney transplantation (KTX) is an optimal approach owing to the high risk of Wilms tumor development. In the case presented here, prophylactic bilateral nephrectomy and KTX were performed in a patient who had not developed Wilms tumor or kidney failure. However, the treatment option is controversial as it involves the removal of a tumor-free kidney and performing KTX in the absence of kidney failure. CASE DIAGNOSIS/TREATMENT: We present the case of a 7-year-old boy, born at 38 weeks gestation. Examinations at the age of 1 year revealed severe proteinuria and abnormal internal and external genitalia. Genetic testing identified a missense mutation in exon 9 of the WT1 gene, leading to the diagnosis of DDS. At the age of 6 years, he had not yet developed Wilms tumor and had grown to a size that allowed him to safely undergo a KTX. His kidney function was slowly deteriorating (chronic kidney disease (CKD) stage 3), but he had not yet developed kidney failure. Two treatment options were considered for this patient: observation until the development of kidney failure or prophylactic bilateral nephrectomy with KTX to avoid Wilms tumor development. After a detailed explanation of options to the patient and family, they decided to proceed with prophylactic bilateral nephrectomy and KTX. At the latest follow-up 4 months after KTX, the patient's kidney functioned well without proteinuria. CONCLUSION: We performed prophylactic bilateral nephrectomy with KTX on a DDS patient who had not developed kidney failure or Wilms tumor by the age of 7 years. Although the risk of development of Wilms tumor in such a patient is unclear, this treatment may be an optimal approach for patients who are physically able to undergo KTX, considering the potentially lethal nature of Wilms tumor in CKD patients.
(© 2023. The Author(s), under exclusive licence to International Pediatric Nephrology Association.)
References: Niaudet P, Gubler MC (2006) WT1 and glomerular diseases. Pediatr Nephrol 21:1653–1660. https://doi.org/10.1007/s00467-006-0208-1. (PMID: 10.1007/s00467-006-0208-116927106)
Mueller RF (1994) The Denys-Drash syndrome. J Med Genet 31:471–477. https://doi.org/10.1136/jmg.31.6.471. (PMID: 10.1136/jmg.31.6.47180719741049926)
Eddy AA, Mauer SM (1985) Pseudohermaphroditism, glomerulopathy, and Wilms tumor (Drash syndrome): frequency in end-stage renal failure. J Pediatr 106:584–587. https://doi.org/10.1016/s0022-3476(85)80076-7. (PMID: 10.1016/s0022-3476(85)80076-72984395)
Liu EK, Suson KD (2020) Syndromic Wilms tumor: a review of predisposing conditions, surveillance and treatment. Transl Androl Urol 9:2370–2381. https://doi.org/10.21037/tau.2020.03.27. (PMID: 10.21037/tau.2020.03.27332097107658145)
Hu M, Zhang GY, Arbuckle S, Graf N, Shun A, Silink M et al (2004) Prophylactic bilateral nephrectomies in two paediatric patients with missense mutations in the WT1 gene. Nephrol Dial Transplant 19:223–226. https://doi.org/10.1093/ndt/gfg473. (PMID: 10.1093/ndt/gfg47314671061)
Dome JS, Graf N, Geller JI, Fernandez CV, Mullen EA, Spreafico F et al (2015) Advances in Wilms Tumor Treatment and Biology: Progress Through International Collaboration. J Clin Oncol 33:2999–3007. https://doi.org/10.1200/jco.2015.62.1888. (PMID: 10.1200/jco.2015.62.1888263048824567702)
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. https://doi.org/10.1111/j.1399-3046.2005.00311.x. (PMID: 10.1111/j.1399-3046.2005.00311.x15910385)
Penn I (1979) Renal transplantation for Wilms tumor: report of 20 cases. J Urol 122:793–794. https://doi.org/10.1016/s0022-5347(17)56607-0. (PMID: 10.1016/s0022-5347(17)56607-0229277)
Hassinger AB, Garimella S (2013) Refractory hypotension after bilateral nephrectomies in a Denys-Drash patient with phenylketonuria. Pediatr Nephrol 28:345–348. https://doi.org/10.1007/s00467-012-2311-9. (PMID: 10.1007/s00467-012-2311-922992984)
Nishi K, Kamei K, Ogura M, Sato M, Ishiwa S, Shioda Y et al (2021) Risk factors for post-nephrectomy hypotension in pediatric patients. Pediatr Nephrol 36:3699–3709. https://doi.org/10.1007/s00467-021-05115-7. (PMID: 10.1007/s00467-021-05115-733988732)
Ahn YH, Park EJ, Kang HG, Kim SH, Cho HY, Shin JI et al (2017) Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy. Pediatr Nephrol 32:81–89. https://doi.org/10.1007/s00467-016-3395-4. (PMID: 10.1007/s00467-016-3395-427300205)
Lipska BS, Ranchin B, Iatropoulos P, Gellermann J, Melk A, Ozaltin F et al (2014) Genotype-phenotype associations in WT1 glomerulopathy. Kidney Int 85:1169–1178. https://doi.org/10.1038/ki.2013.519. (PMID: 10.1038/ki.2013.51924402088)
Lehnhardt A, Karnatz C, Ahlenstiel-Grunow T, Benz K, Benz MR, Budde K et al (2015) Clinical and molecular characterization of patients with heterozygous mutations in Wilms tumor suppressor gene 1. Clin J Am Soc Nephrol 10:825–831. https://doi.org/10.2215/cjn.10141014. (PMID: 10.2215/cjn.10141014258183374422247)
Perlman EJ, Grundy PE, Anderson JR, Jennings LJ, Green DM, Dome JS et al (2011) WT1 mutation and 11P15 loss of heterozygosity predict relapse in very low-risk Wilms tumors treated with surgery alone: a children’s oncology group study. J Clin Oncol 29:698–703. https://doi.org/10.1200/jco.2010.31.5192. (PMID: 10.1200/jco.2010.31.519221189373)
Spreafico F, Fernandez CV, Brok J, Nakata K, Vujanic G, Geller JI et al (2021) Wilms tumour. Nat Rev Dis Primers 7:75. https://doi.org/10.1038/s41572-021-00308-8. (PMID: 10.1038/s41572-021-00308-834650095)
DeMaria JE, Hardy BE, Brezinski A, Churchill BM (1979) Renal transplantation in patients with bilateral Wilm’s tumor. J Pediatr Surg 14:577–579. https://doi.org/10.1016/s0022-3468(79)80143-8. (PMID: 10.1016/s0022-3468(79)80143-8229206)
Gariépy-Assal L, Gilbert RD, Žiaugra A, Foster BJ (2018) Management of Denys-Drash syndrome: A case series based on an international survey. Clin Nephrol Case Stud 6:36–44. https://doi.org/10.5414/cncs109515. (PMID: 10.5414/cncs109515304502736236398)
فهرسة مساهمة: Keywords: Denys–Drash syndrome; Kidney transplantation; Prophylactic nephrectomy; Wilms tumor
المشرفين على المادة: 0 (WT1 Proteins)
تواريخ الأحداث: Date Created: 20230812 Date Completed: 20240129 Latest Revision: 20240410
رمز التحديث: 20240411
DOI: 10.1007/s00467-023-06113-7
PMID: 37572117
قاعدة البيانات: MEDLINE
الوصف
تدمد:1432-198X
DOI:10.1007/s00467-023-06113-7