A physiological approach to recurrent nephrolithiasis and its genetic determinants

Detalhes bibliográficos
Autor(a) principal: Fonseca,Nuno Moreira
Data de Publicação: 2020
Outros Autores: Livrozet,Marine, Varga-Poussou,Rosa, Letavernier,Emmanuel, Frochot,Vincent, Daudon,Michel, Haymann,Jean-Philippe
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692020000100012
Resumo: We report a case of a 63-year-old patient with recurrent nephrolithiasis for over 40 years and a significant family history of nephrolithiasis. The patient underwent full investigation at our department. He presented hypercalcemia, hypophosphatemia and hypercalciuria, with parathyroid hormone level in the normal range. A calcium load test and a fluorocholine PET-CT excluded primary hyperparathyroidism. Abnormal secretion of parathyroid hormone-related protein and sarcoidosis were also excluded. Genetic analysis showed mutations encoding for 25(OH)-vitamin D3-24-hydroxylase (CYP24A1) and Na-dependent phosphate cotransporter 2c (SLC34A3). This case affords insights into the biological pathways that underlie the role of genetic inheritance and accrued risk of development of nephrolithiasis.
id RCAP_bc8f1cf3470713bb8a86b3d18f43a69d
oai_identifier_str oai:scielo:S0872-01692020000100012
network_acronym_str RCAP
network_name_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository_id_str 7160
spelling A physiological approach to recurrent nephrolithiasis and its genetic determinantsCalcitriolHypercalciuriaHyperphosphaturiaNephrolithiasisWe report a case of a 63-year-old patient with recurrent nephrolithiasis for over 40 years and a significant family history of nephrolithiasis. The patient underwent full investigation at our department. He presented hypercalcemia, hypophosphatemia and hypercalciuria, with parathyroid hormone level in the normal range. A calcium load test and a fluorocholine PET-CT excluded primary hyperparathyroidism. Abnormal secretion of parathyroid hormone-related protein and sarcoidosis were also excluded. Genetic analysis showed mutations encoding for 25(OH)-vitamin D3-24-hydroxylase (CYP24A1) and Na-dependent phosphate cotransporter 2c (SLC34A3). This case affords insights into the biological pathways that underlie the role of genetic inheritance and accrued risk of development of nephrolithiasis.Sociedade Portuguesa de Nefrologia2020-03-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692020000100012Portuguese Journal of Nephrology & Hypertension v.34 n.1 2020reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPenghttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692020000100012Fonseca,Nuno MoreiraLivrozet,MarineVarga-Poussou,RosaLetavernier,EmmanuelFrochot,VincentDaudon,MichelHaymann,Jean-Philippeinfo:eu-repo/semantics/openAccess2024-02-06T17:05:05Zoai:scielo:S0872-01692020000100012Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:19:03.860472Repositório 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 A physiological approach to recurrent nephrolithiasis and its genetic determinants
title A physiological approach to recurrent nephrolithiasis and its genetic determinants
spellingShingle A physiological approach to recurrent nephrolithiasis and its genetic determinants
Fonseca,Nuno Moreira
Calcitriol
Hypercalciuria
Hyperphosphaturia
Nephrolithiasis
title_short A physiological approach to recurrent nephrolithiasis and its genetic determinants
title_full A physiological approach to recurrent nephrolithiasis and its genetic determinants
title_fullStr A physiological approach to recurrent nephrolithiasis and its genetic determinants
title_full_unstemmed A physiological approach to recurrent nephrolithiasis and its genetic determinants
title_sort A physiological approach to recurrent nephrolithiasis and its genetic determinants
author Fonseca,Nuno Moreira
author_facet Fonseca,Nuno Moreira
Livrozet,Marine
Varga-Poussou,Rosa
Letavernier,Emmanuel
Frochot,Vincent
Daudon,Michel
Haymann,Jean-Philippe
author_role author
author2 Livrozet,Marine
Varga-Poussou,Rosa
Letavernier,Emmanuel
Frochot,Vincent
Daudon,Michel
Haymann,Jean-Philippe
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Fonseca,Nuno Moreira
Livrozet,Marine
Varga-Poussou,Rosa
Letavernier,Emmanuel
Frochot,Vincent
Daudon,Michel
Haymann,Jean-Philippe
dc.subject.por.fl_str_mv Calcitriol
Hypercalciuria
Hyperphosphaturia
Nephrolithiasis
topic Calcitriol
Hypercalciuria
Hyperphosphaturia
Nephrolithiasis
description We report a case of a 63-year-old patient with recurrent nephrolithiasis for over 40 years and a significant family history of nephrolithiasis. The patient underwent full investigation at our department. He presented hypercalcemia, hypophosphatemia and hypercalciuria, with parathyroid hormone level in the normal range. A calcium load test and a fluorocholine PET-CT excluded primary hyperparathyroidism. Abnormal secretion of parathyroid hormone-related protein and sarcoidosis were also excluded. Genetic analysis showed mutations encoding for 25(OH)-vitamin D3-24-hydroxylase (CYP24A1) and Na-dependent phosphate cotransporter 2c (SLC34A3). This case affords insights into the biological pathways that underlie the role of genetic inheritance and accrued risk of development of nephrolithiasis.
publishDate 2020
dc.date.none.fl_str_mv 2020-03-01
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692020000100012
url http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692020000100012
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692020000100012
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Portuguesa de Nefrologia
publisher.none.fl_str_mv Sociedade Portuguesa de Nefrologia
dc.source.none.fl_str_mv Portuguese Journal of Nephrology & Hypertension v.34 n.1 2020
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
_version_ 1799137280214958080

Registros relacionados