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Journal of Medical Case Reports

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Open Access 01-12-2018 | Case report

Association of medullary sponge kidney and hyperparathyroidism with RET G691S/S904S polymorphism: a case report

Authors: Muhammad Usman Janjua, Xiao-dan Long, Zhao-hui Mo, Chang-sheng Dong, Ping Jin

Published in: Journal of Medical Case Reports | Issue 1/2018

Abstract

Background

Medullary sponge kidney is a rare renal malformation, which usually manifests as nephrocalcinosis, renal tubular acidosis, and recurrent urinary tract infections. Medullary sponge kidney is often associated with renal developmental anomalies and tumors, and its exact pathogenesis is not yet clearly explained. Given the key role of the interaction of glial cell line-derived neurotrophic factor gene, GDNF, and the “rearranged during transfection” proto-oncogene, RET, in kidney and urinary tract development, variations in these genes are proposed to be candidates for medullary sponge kidney. Hyperparathyroidism is observed in a few patients with medullary sponge kidney, but the exact pathogenesis of this association is unknown. This case report highlights the coexistence of these two conditions associated with RET polymorphism, which contributes toward the understanding of the pathogenesis of medullary sponge kidney.

Case presentation

A 52-year-old Chinese woman with recurrent renal stones presented to our hospital. Subsequently she was diagnosed as having medullary sponge kidney and tertiary hyperparathyroidism and underwent parathyroidectomy. Genomic DNA was isolated from lymphocytes and the GDNF and RET genes were determined by Sanger sequencing. Two RET polymorphisms were found in our patient, one was nonsynonymous c.2071G>A (G691S; rs1799939) located in exon 11, the other was synonymous c.2712C>G. (p.S904S; rs1800863) located in exon 15.

Conclusions

We demonstrated a case of medullary sponge kidney combined with tertiary hyperparathyroidism, which contributes to further understanding of the pathogenesis of this disease. Besides, we also found RET G691S/S904S polymorphism in this patient, but additional studies are required to explore the role of the RET gene in medullary sponge kidney with hyperparathyroidism.

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Title: Association of medullary sponge kidney and hyperparathyroidism with RET G691S/S904S polymorphism: a case report
Authors: Muhammad Usman Janjua
Xiao-dan Long
Zhao-hui Mo
Chang-sheng Dong
Ping Jin
Publication date: 01-12-2018
Publisher: BioMed Central
Published in: Journal of Medical Case Reports / Issue 1/2018
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-018-1736-6

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Association of medullary sponge kidney and hyperparathyroidism with RET G691S/S904S polymorphism: a case report

Abstract

Background

Case presentation

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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