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12-08-2023 | Nephroblastoma | Management Dilemma

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

Authors: Chika Hosokawa, Kiyohiko Hotta, Takayuki Okamoto, Yuko Cho, Takayuki Hirose, Naoya Iwahara, Atsushi Manabe, Nobuo Shinohara

Published in: Pediatric Nephrology | Issue 3/2024

Abstract

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.

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Title: Prophylactic bilateral nephrectomy and preemptive kidney transplantation for Denys–Drash syndrome prior to development of kidney failure
Authors: Chika Hosokawa
Kiyohiko Hotta
Takayuki Okamoto
Yuko Cho
Takayuki Hirose
Naoya Iwahara
Atsushi Manabe
Nobuo Shinohara
Publication date: 12-08-2023
Publisher: Springer Berlin Heidelberg
Keywords: Nephroblastoma
Nephrectomy
Nephrectomy
Nephrectomy
Kidney Transplantation
Kidney Transplantation
Kidney Transplantation
Kidney Transplantation
Kidney Transplantation
Kidney Transplantation
Chronic Kidney Disease
Published in: Pediatric Nephrology / Issue 3/2024
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-023-06113-7

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Case diagnosis/treatment

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case diagnosis/treatment

Conclusion

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