Chronic Hypocalcemia due to Anti-Calcium Sensing Receptor Antibodies

Detalhes bibliográficos
Autor(a) principal: Marques, Pedro
Data de Publicação: 2014
Outros Autores: Santos, Rita, Cavaco, Branca, Leite, Valeriano
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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spelling 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
dc.date.none.fl_str_mv 2014-06-30
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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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dc.publisher.none.fl_str_mv Ordem dos Médicos
publisher.none.fl_str_mv Ordem dos Médicos
dc.source.none.fl_str_mv 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
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