Clinical, Molecular Characterization and Long-Term Follow-Up of a Patient with Neonatal Severe Hyperparathyroidism
Autor(a) principal: | |
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Data de Publicação: | 2022 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://doi.org/10.25754/pjp.2022.24480 |
Resumo: | Heterozygous inactivating mutations of the calcium-sensing receptor encoding gene (CASR) cause autosomal dominant familial hypocalciuric hypercalcemia (FHH), whereas mutations that inactivate both alleles cause neonatal severe hyperparathyroidism (NSHPT), a rare and potentially fatal disease. We present the clinical and genetic characterization of a Portuguese family with FHH/NSHPT as well as the long-term follow-up of the proband. Newborn admitted due to progressive hypotonia, feeding refusal, and dehydration. Serum calcium and PTH levels were markedly increased. Radiological evaluation revealed osteopenia and several fractures. Total parathyroidectomy with reimplantation of ¼ of one gland was performed. At 15-year-old she is clinically well, has normal calcium levels and detectable parathormone values, under calcium and α-calcidiol treatment. CASR gene sequencing revealed a germline homozygous nonsense mutation. The proband’s parents and grandfathers were asymptomatic, heterozygous carriers of the same mutation. |
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Clinical, Molecular Characterization and Long-Term Follow-Up of a Patient with Neonatal Severe HyperparathyroidismCase reportsHeterozygous inactivating mutations of the calcium-sensing receptor encoding gene (CASR) cause autosomal dominant familial hypocalciuric hypercalcemia (FHH), whereas mutations that inactivate both alleles cause neonatal severe hyperparathyroidism (NSHPT), a rare and potentially fatal disease. We present the clinical and genetic characterization of a Portuguese family with FHH/NSHPT as well as the long-term follow-up of the proband. Newborn admitted due to progressive hypotonia, feeding refusal, and dehydration. Serum calcium and PTH levels were markedly increased. Radiological evaluation revealed osteopenia and several fractures. Total parathyroidectomy with reimplantation of ¼ of one gland was performed. At 15-year-old she is clinically well, has normal calcium levels and detectable parathormone values, under calcium and α-calcidiol treatment. CASR gene sequencing revealed a germline homozygous nonsense mutation. The proband’s parents and grandfathers were asymptomatic, heterozygous carriers of the same mutation.Sociedade Portuguesa de Pediatria2022-01-24info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://doi.org/10.25754/pjp.2022.24480eng2184-44532184-3333Padeira, GonçaloCavaco, Branca M.Virella, DanielSá Couto, HenriqueAfonso-Lopes, Maria de Lurdesinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-08-03T02:58:19Zoai:ojs.revistas.rcaap.pt:article/24480Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:25:38.496383Repositório 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 |
Clinical, Molecular Characterization and Long-Term Follow-Up of a Patient with Neonatal Severe Hyperparathyroidism |
title |
Clinical, Molecular Characterization and Long-Term Follow-Up of a Patient with Neonatal Severe Hyperparathyroidism |
spellingShingle |
Clinical, Molecular Characterization and Long-Term Follow-Up of a Patient with Neonatal Severe Hyperparathyroidism Padeira, Gonçalo Case reports |
title_short |
Clinical, Molecular Characterization and Long-Term Follow-Up of a Patient with Neonatal Severe Hyperparathyroidism |
title_full |
Clinical, Molecular Characterization and Long-Term Follow-Up of a Patient with Neonatal Severe Hyperparathyroidism |
title_fullStr |
Clinical, Molecular Characterization and Long-Term Follow-Up of a Patient with Neonatal Severe Hyperparathyroidism |
title_full_unstemmed |
Clinical, Molecular Characterization and Long-Term Follow-Up of a Patient with Neonatal Severe Hyperparathyroidism |
title_sort |
Clinical, Molecular Characterization and Long-Term Follow-Up of a Patient with Neonatal Severe Hyperparathyroidism |
author |
Padeira, Gonçalo |
author_facet |
Padeira, Gonçalo Cavaco, Branca M. Virella, Daniel Sá Couto, Henrique Afonso-Lopes, Maria de Lurdes |
author_role |
author |
author2 |
Cavaco, Branca M. Virella, Daniel Sá Couto, Henrique Afonso-Lopes, Maria de Lurdes |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Padeira, Gonçalo Cavaco, Branca M. Virella, Daniel Sá Couto, Henrique Afonso-Lopes, Maria de Lurdes |
dc.subject.por.fl_str_mv |
Case reports |
topic |
Case reports |
description |
Heterozygous inactivating mutations of the calcium-sensing receptor encoding gene (CASR) cause autosomal dominant familial hypocalciuric hypercalcemia (FHH), whereas mutations that inactivate both alleles cause neonatal severe hyperparathyroidism (NSHPT), a rare and potentially fatal disease. We present the clinical and genetic characterization of a Portuguese family with FHH/NSHPT as well as the long-term follow-up of the proband. Newborn admitted due to progressive hypotonia, feeding refusal, and dehydration. Serum calcium and PTH levels were markedly increased. Radiological evaluation revealed osteopenia and several fractures. Total parathyroidectomy with reimplantation of ¼ of one gland was performed. At 15-year-old she is clinically well, has normal calcium levels and detectable parathormone values, under calcium and α-calcidiol treatment. CASR gene sequencing revealed a germline homozygous nonsense mutation. The proband’s parents and grandfathers were asymptomatic, heterozygous carriers of the same mutation. |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-01-24 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://doi.org/10.25754/pjp.2022.24480 |
url |
https://doi.org/10.25754/pjp.2022.24480 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
2184-4453 2184-3333 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.publisher.none.fl_str_mv |
Sociedade Portuguesa de Pediatria |
publisher.none.fl_str_mv |
Sociedade Portuguesa de Pediatria |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
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1799133525785444352 |