دورية أكاديمية
Prophylactic bilateral nephrectomy and preemptive kidney transplantation for Denys-Drash syndrome prior to development of kidney failure.
العنوان: | Prophylactic bilateral nephrectomy and preemptive kidney transplantation for Denys-Drash syndrome prior to development of kidney failure. |
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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.) |
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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 |
تدمد: | 1432-198X |
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DOI: | 10.1007/s00467-023-06113-7 |