title: 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.
authors.affiliation: Nephrology Center, Toranomon Hospital and Okinaka Memorial Institute for Medical Research Tokyo, Japan.
authors.forename: Rikako
authors.initials: R
authors.lastname: Hiramatsu
authors.affiliation: Nephrology Center, Toranomon Hospital and Okinaka Memorial Institute for Medical Research Tokyo, Japan.
authors.forename: Yoshifumi
authors.initials: Y
authors.lastname: Ubara
authors.affiliation: Department of Pediatrics, Hokkaido University School of Medicine Sapporo, Japan.
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Tajima
authors.affiliation: Division of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center Kyoto, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Usui
authors.affiliation: Division of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center Kyoto, Japan.
authors.forename: Kazutaka
authors.initials: K
authors.lastname: Namba
authors.affiliation: Toranomon Hospital Endocrine Center and Okinaka Memorial Institute for Medical Research Tokyo, Japan.
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Takeuchi
authors.affiliation: Nephrology Center, Toranomon Hospital and Okinaka Memorial Institute for Medical Research Tokyo, Japan.
authors.forename: Naoki
authors.initials: N
authors.lastname: Sawa
authors.affiliation: Nephrology Center, Toranomon Hospital and Okinaka Memorial Institute for Medical Research Tokyo, Japan.
authors.forename: Eiko
authors.initials: E
authors.lastname: Hasegawa
authors.affiliation: Nephrology Center, Toranomon Hospital and Okinaka Memorial Institute for Medical Research Tokyo, Japan.
authors.forename: Kenmei
authors.initials: K
authors.lastname: Takaichi
keywords: GATA3 mutation; HDR syndrome; hemodialysis; hypoparathyroidism; tumoral calcinosis