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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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
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author Hiramatsu, Rikako
Ubara, Yoshifumi
Tajima, Toshihiro
Usui, Takeshi
Namba, Kazutaka
Takeuchi, Yasuhiro
Sawa, Naoki
Hasegawa, Eiko
Takaichi, Kenmei
author_facet Hiramatsu, Rikako
Ubara, Yoshifumi
Tajima, Toshihiro
Usui, Takeshi
Namba, Kazutaka
Takeuchi, Yasuhiro
Sawa, Naoki
Hasegawa, Eiko
Takaichi, Kenmei
author_sort Hiramatsu, Rikako
collection PubMed
description 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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spelling pubmed-43523552015-03-12 Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis Hiramatsu, Rikako Ubara, Yoshifumi Tajima, Toshihiro Usui, Takeshi Namba, Kazutaka Takeuchi, Yasuhiro Sawa, Naoki Hasegawa, Eiko Takaichi, Kenmei Clin Case Rep Case Reports 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. BlackWell Publishing Ltd 2015-02 2015-01-22 /pmc/articles/PMC4352355/ /pubmed/25767699 http://dx.doi.org/10.1002/ccr3.125 Text en © 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc/3.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Hiramatsu, Rikako
Ubara, Yoshifumi
Tajima, Toshihiro
Usui, Takeshi
Namba, Kazutaka
Takeuchi, Yasuhiro
Sawa, Naoki
Hasegawa, Eiko
Takaichi, Kenmei
Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis
title Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis
title_full Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis
title_fullStr Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis
title_full_unstemmed Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis
title_short Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis
title_sort tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis
topic Case Reports
url 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
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