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:
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Authors | Muhammad Usman Janjua, Xiao-Dan Long, Zhao-Hui Mo, Chang-Sheng Dong, Ping Jin |
Journal | Journal of medical case reports
(J Med Case Rep)
Vol. 12
Issue 1
Pg. 197
(Jul 09 2018)
ISSN: 1752-1947 [Electronic] England |
PMID | 29983117
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- MAS1 protein, human
- Proto-Oncogene Mas
- Proto-Oncogene Proteins c-ret
- RET protein, human
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Topics |
- Female
- Humans
- Hyperparathyroidism
(genetics, surgery)
- Medullary Sponge Kidney
(genetics)
- Middle Aged
- Polymorphism, Genetic
- Proto-Oncogene Mas
- Proto-Oncogene Proteins c-ret
(genetics)
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