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

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

SUBMITTER: Janjua MU 

PROVIDER: S-EPMC6036688 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature