| Title |
Association of medullary sponge kidney and hyperparathyroidism with RET G691S/S904S polymorphism: a case report
|
|---|---|
| Published in |
Journal of Medical Case Reports, July 2018
|
| DOI | 10.1186/s13256-018-1736-6 |
| Pubmed ID | |
| Authors |
Muhammad Usman Janjua, Xiao-dan Long, Zhao-hui Mo, Chang-sheng Dong, Ping Jin |
| Abstract |
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. 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. 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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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 12 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 3 | 25% |
| Student > Ph. D. Student | 2 | 17% |
| Other | 1 | 8% |
| Student > Master | 1 | 8% |
| Student > Postgraduate | 1 | 8% |
| Other | 0 | 0% |
| Unknown | 4 | 33% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 5 | 42% |
| Psychology | 1 | 8% |
| Biochemistry, Genetics and Molecular Biology | 1 | 8% |
| Unknown | 5 | 42% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 14 July 2018.
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#18,643,992
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#2,287
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Outputs of similar age from Journal of Medical Case Reports
#54
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