J Med Case Rep 2018 Jul 9;12(1):197. Epub 2018 Jul 9.
Department of Endocrinology, The Third Xiangya Hospital, Central South University, Tongzipo Road, Changsha, 410007, Hunan Province, People's Republic of China.
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. Read More