Chronic Hypocalcemia due to Anti-Calcium Sensing Receptor Antibodies
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/4408 |
Resumo: | Introduction: Hypoparathyroidism is an entity associated with hypocalcemia, more frequently a consequence of neck surgery. An autoimmune etiology is rare and its diagnosis difficult to establish.Clinical report: 52 year-old woman, with irrelevant past medical history and no significant familial conditions, referred because of hypocalcemia and basal ganglia calcifications, detected in the course of investigation of myalgias. Besides hypocalcemia (4.6 mg/ dL), hyperphosphatemia (8.7 mg/dL), undetectable parathyroid hormone and low urinary calcium, phosphorus and magnesium were present. Molecular analysis of CaSR gene excluded germinal mutations. Anti-calcium sensing receptor antibodies (anti-CaSR) were present. The patient is asymptomatic and normocalcemic under treatment with calcium and vitamin D.Discussion: Although rare, hypocalcemia due to anti-CaSR hypoparathyroidism must be considered in the absence of previous neck surgery, hypocalcemic drugs, familial history or phenotype suggesting a genetic disorder. Low or undetectable parathyroid hormone excludes pseudohypoparathyroidism and anti-CaSR positivity establishes the diagnosis.Keywords: Hypocalcemia; Hypoparathyroidism; Autoantibodies; Receptors, Calcium-Sensing. |
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Chronic Hypocalcemia due to Anti-Calcium Sensing Receptor AntibodiesHipocalcemia Crónica por Anticorpos Anti-Recetor do CálcioIntroduction: Hypoparathyroidism is an entity associated with hypocalcemia, more frequently a consequence of neck surgery. An autoimmune etiology is rare and its diagnosis difficult to establish.Clinical report: 52 year-old woman, with irrelevant past medical history and no significant familial conditions, referred because of hypocalcemia and basal ganglia calcifications, detected in the course of investigation of myalgias. Besides hypocalcemia (4.6 mg/ dL), hyperphosphatemia (8.7 mg/dL), undetectable parathyroid hormone and low urinary calcium, phosphorus and magnesium were present. Molecular analysis of CaSR gene excluded germinal mutations. Anti-calcium sensing receptor antibodies (anti-CaSR) were present. The patient is asymptomatic and normocalcemic under treatment with calcium and vitamin D.Discussion: Although rare, hypocalcemia due to anti-CaSR hypoparathyroidism must be considered in the absence of previous neck surgery, hypocalcemic drugs, familial history or phenotype suggesting a genetic disorder. Low or undetectable parathyroid hormone excludes pseudohypoparathyroidism and anti-CaSR positivity establishes the diagnosis.Keywords: Hypocalcemia; Hypoparathyroidism; Autoantibodies; Receptors, Calcium-Sensing.Introdução: O hipoparatiroidismo cursa com hipocalcemia e é mais frequentemente registado após cirurgia cervical. A etiologia autoimune é mais rara e difícil de diagnosticar.Caso clínico: Mulher, 52 anos, sem antecedentes pessoais, medicamentosos ou familiares relevantes, referenciada por hipocalcemia e calcificação dos núcleos da base, detetados no decurso de investigação de quadro de mialgias. Além de hipocalcemia (4,6 mg/dL), foi verificada hiperfosfatemia (8,7 mg/dL), hormona paratiroideia indetetável, calciúria, fosfatúria e magnesúria baixas. A análise molecular do gene CaSR excluiu mutações germinais. A pesquisa de anticorpos anti-receptor sensível do cálcio (anti-CaSR) foi positiva. Atualmente está assintomática e normocalcémica sob terapêutica com cálcio e vitamina D.Discussão: Embora rara, a hipocalcemia por hipoparatiroidismo autoimune deve ponderar-se em adultos sem antecedentes de cirurgia cervical, medicação hipocalcemiante, história familiar ou fenótipo sugestivo de doença genética. Hormona paratiroideia diminuída ou indetetável exclui pseudohipoparatiroidismo e a positividade para anti-CaSR confirma o diagnóstico.Palavras-chave: Hipocalcemia; Hipoparatiroidismo; Receptores de Detecção de Cálcio.Ordem dos Médicos2014-06-30info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfimage/jpegapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/4408oai:ojs.www.actamedicaportuguesa.com:article/4408Acta Médica Portuguesa; Vol. 27 No. 3 (2014): May-June; 399-402Acta Médica Portuguesa; Vol. 27 N.º 3 (2014): Maio-Junho; 399-4021646-07580870-399Xreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPporhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/4408https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/4408/3985https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/4408/7071https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/4408/7263Marques, PedroSantos, RitaCavaco, BrancaLeite, Valerianoinfo:eu-repo/semantics/openAccess2022-12-20T11:03:39Zoai:ojs.www.actamedicaportuguesa.com:article/4408Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:18:51.482532Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Chronic Hypocalcemia due to Anti-Calcium Sensing Receptor Antibodies Hipocalcemia Crónica por Anticorpos Anti-Recetor do Cálcio |
title |
Chronic Hypocalcemia due to Anti-Calcium Sensing Receptor Antibodies |
spellingShingle |
Chronic Hypocalcemia due to Anti-Calcium Sensing Receptor Antibodies Marques, Pedro |
title_short |
Chronic Hypocalcemia due to Anti-Calcium Sensing Receptor Antibodies |
title_full |
Chronic Hypocalcemia due to Anti-Calcium Sensing Receptor Antibodies |
title_fullStr |
Chronic Hypocalcemia due to Anti-Calcium Sensing Receptor Antibodies |
title_full_unstemmed |
Chronic Hypocalcemia due to Anti-Calcium Sensing Receptor Antibodies |
title_sort |
Chronic Hypocalcemia due to Anti-Calcium Sensing Receptor Antibodies |
author |
Marques, Pedro |
author_facet |
Marques, Pedro Santos, Rita Cavaco, Branca Leite, Valeriano |
author_role |
author |
author2 |
Santos, Rita Cavaco, Branca Leite, Valeriano |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Marques, Pedro Santos, Rita Cavaco, Branca Leite, Valeriano |
description |
Introduction: Hypoparathyroidism is an entity associated with hypocalcemia, more frequently a consequence of neck surgery. An autoimmune etiology is rare and its diagnosis difficult to establish.Clinical report: 52 year-old woman, with irrelevant past medical history and no significant familial conditions, referred because of hypocalcemia and basal ganglia calcifications, detected in the course of investigation of myalgias. Besides hypocalcemia (4.6 mg/ dL), hyperphosphatemia (8.7 mg/dL), undetectable parathyroid hormone and low urinary calcium, phosphorus and magnesium were present. Molecular analysis of CaSR gene excluded germinal mutations. Anti-calcium sensing receptor antibodies (anti-CaSR) were present. The patient is asymptomatic and normocalcemic under treatment with calcium and vitamin D.Discussion: Although rare, hypocalcemia due to anti-CaSR hypoparathyroidism must be considered in the absence of previous neck surgery, hypocalcemic drugs, familial history or phenotype suggesting a genetic disorder. Low or undetectable parathyroid hormone excludes pseudohypoparathyroidism and anti-CaSR positivity establishes the diagnosis.Keywords: Hypocalcemia; Hypoparathyroidism; Autoantibodies; Receptors, Calcium-Sensing. |
publishDate |
2014 |
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2014-06-30 |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/4408 oai:ojs.www.actamedicaportuguesa.com:article/4408 |
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/4408 |
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oai:ojs.www.actamedicaportuguesa.com:article/4408 |
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por |
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/4408 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/4408/3985 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/4408/7071 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/4408/7263 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf image/jpeg application/pdf |
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Ordem dos Médicos |
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Ordem dos Médicos |
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Acta Médica Portuguesa; Vol. 27 No. 3 (2014): May-June; 399-402 Acta Médica Portuguesa; Vol. 27 N.º 3 (2014): Maio-Junho; 399-402 1646-0758 0870-399X reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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