Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis.

ABSTRACT: We describe a hemodialysis patient with hypoparathyroidism due to HDR (hypoparathyroidism, sensorineural deafness, and renal dysplasia) syndrome caused by GATA3 mutation. She presents tumoral calcinosis which is a rare complication of end-stage renal failure. A novel mutation of GATA3 is identified in this patient.

SUBMITTER: Hiramatsu R 

PROVIDER: S-EPMC4352355 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature