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A 23-year-old patient with secondary tumoral calcinosis: Regression after subtotal parathyroidectomy: A case report

INTRODUCTION: Tumoral calcinosis (TC) is a rare disorder defined by hyperphosphatemia and ectopic calcifications in various locations. The most common form of TC is associated with disorders such as renal insufficiency, hyperparathyroidism, or hypervitaminosis D. The primary (hereditary) TC is cause...

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Autores principales: Niemann, Katharina E., Kröpil, Feride, Hoffmann, Martin F., Coulibaly, Marlon O., Schildhauer, Thomas A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4855743/
https://www.ncbi.nlm.nih.gov/pubmed/27088846
http://dx.doi.org/10.1016/j.ijscr.2016.04.011
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author Niemann, Katharina E.
Kröpil, Feride
Hoffmann, Martin F.
Coulibaly, Marlon O.
Schildhauer, Thomas A.
author_facet Niemann, Katharina E.
Kröpil, Feride
Hoffmann, Martin F.
Coulibaly, Marlon O.
Schildhauer, Thomas A.
author_sort Niemann, Katharina E.
collection PubMed
description INTRODUCTION: Tumoral calcinosis (TC) is a rare disorder defined by hyperphosphatemia and ectopic calcifications in various locations. The most common form of TC is associated with disorders such as renal insufficiency, hyperparathyroidism, or hypervitaminosis D. The primary (hereditary) TC is caused by inactivating mutations in either the fibroblast growth factor 23 (FGF23), the GalNAc transferase 3 (GALNT3) or the KLOTHO (KL) gene. PRESENTATION OF CASE: We report here a case of secondary TC in end-stage renal disease. The patient was on regular hemodialysis and presented with severe painful soft-tissue calcifications around her left hip and shoulder that had been increasing over the last two years. Initially, she was treated with dietary phosphate restriction and phosphate binders. Because of high phosphate blood levels, which were not yet managed with dialysis and medical therapy, a subtotal parathyroidectomy (sP) was performed. This approach demonstrated significant response. Three months after surgery a rapid regression of the tumors was observed. DISSCUSION: Regardless of the etiology, the two types of TC do not differ in their radiologic or histopathologic presentations but need to be diagnosed correctly to initiate targeted and effective treatment. Considering the primary TC, primary treatment is early and complete surgical excision. In case of secondary TC surgical excision of the tumoral masses should be avoid because of extensive complications. These patients benefit from sP. CONCLUSION: After initial conservative therapy chronic kidney disease patients with TC might benefit from sP to avoid prolonged suffering and potential mutilations.
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spelling pubmed-48557432016-05-24 A 23-year-old patient with secondary tumoral calcinosis: Regression after subtotal parathyroidectomy: A case report Niemann, Katharina E. Kröpil, Feride Hoffmann, Martin F. Coulibaly, Marlon O. Schildhauer, Thomas A. Int J Surg Case Rep Case Report INTRODUCTION: Tumoral calcinosis (TC) is a rare disorder defined by hyperphosphatemia and ectopic calcifications in various locations. The most common form of TC is associated with disorders such as renal insufficiency, hyperparathyroidism, or hypervitaminosis D. The primary (hereditary) TC is caused by inactivating mutations in either the fibroblast growth factor 23 (FGF23), the GalNAc transferase 3 (GALNT3) or the KLOTHO (KL) gene. PRESENTATION OF CASE: We report here a case of secondary TC in end-stage renal disease. The patient was on regular hemodialysis and presented with severe painful soft-tissue calcifications around her left hip and shoulder that had been increasing over the last two years. Initially, she was treated with dietary phosphate restriction and phosphate binders. Because of high phosphate blood levels, which were not yet managed with dialysis and medical therapy, a subtotal parathyroidectomy (sP) was performed. This approach demonstrated significant response. Three months after surgery a rapid regression of the tumors was observed. DISSCUSION: Regardless of the etiology, the two types of TC do not differ in their radiologic or histopathologic presentations but need to be diagnosed correctly to initiate targeted and effective treatment. Considering the primary TC, primary treatment is early and complete surgical excision. In case of secondary TC surgical excision of the tumoral masses should be avoid because of extensive complications. These patients benefit from sP. CONCLUSION: After initial conservative therapy chronic kidney disease patients with TC might benefit from sP to avoid prolonged suffering and potential mutilations. Elsevier 2016-04-11 /pmc/articles/PMC4855743/ /pubmed/27088846 http://dx.doi.org/10.1016/j.ijscr.2016.04.011 Text en © 2016 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Niemann, Katharina E.
Kröpil, Feride
Hoffmann, Martin F.
Coulibaly, Marlon O.
Schildhauer, Thomas A.
A 23-year-old patient with secondary tumoral calcinosis: Regression after subtotal parathyroidectomy: A case report
title A 23-year-old patient with secondary tumoral calcinosis: Regression after subtotal parathyroidectomy: A case report
title_full A 23-year-old patient with secondary tumoral calcinosis: Regression after subtotal parathyroidectomy: A case report
title_fullStr A 23-year-old patient with secondary tumoral calcinosis: Regression after subtotal parathyroidectomy: A case report
title_full_unstemmed A 23-year-old patient with secondary tumoral calcinosis: Regression after subtotal parathyroidectomy: A case report
title_short A 23-year-old patient with secondary tumoral calcinosis: Regression after subtotal parathyroidectomy: A case report
title_sort 23-year-old patient with secondary tumoral calcinosis: regression after subtotal parathyroidectomy: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4855743/
https://www.ncbi.nlm.nih.gov/pubmed/27088846
http://dx.doi.org/10.1016/j.ijscr.2016.04.011
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