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

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...

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Detalles Bibliográficos
Autores principales: Hiramatsu, Rikako, Ubara, Yoshifumi, Tajima, Toshihiro, Usui, Takeshi, Namba, Kazutaka, Takeuchi, Yasuhiro, Sawa, Naoki, Hasegawa, Eiko, Takaichi, Kenmei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352355/
https://www.ncbi.nlm.nih.gov/pubmed/25767699
http://dx.doi.org/10.1002/ccr3.125
Descripción
Sumario: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.

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