Diagnostic approach to patients with low serum alkaline phosphatase

Increased serum levels of alkaline phosphatase (ALP) are widely recognized as a biochemical marker of many disorders afecting the liver or bone. However, the approach for patients with low ALP phosphatase is not well-established. Low serum ALP is an epiphenomenon of many severe acute injuries and di...

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Detalhes bibliográficos
Autor: Riancho Moral, José Antonio|||0000-0003-0691-8755
Formato: artículo
Fecha de publicación:2023
País:España
Recursos:Universidad de Cantabria (UC)
Repositorio:UCrea Repositorio Abierto de la Universidad de Cantabria
Idioma:inglés
OAI Identifier:oai:repositorio.unican.es:10902/31241
Acesso em linha:https://hdl.handle.net/10902/31241
Access Level:acceso abierto
Palavra-chave:Alkaline phosphatase
Hypophosphatasia
Hypophosphatasemia
Pyridoxal phosphate
ALPL
42 osteomalacia
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oai_identifier_str oai:repositorio.unican.es:10902/31241
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repository_id_str
spelling Diagnostic approach to patients with low serum alkaline phosphataseRiancho Moral, José Antonio|||0000-0003-0691-8755Alkaline phosphataseHypophosphatasiaHypophosphatasemiaPyridoxal phosphateALPL42 osteomalaciaIncreased serum levels of alkaline phosphatase (ALP) are widely recognized as a biochemical marker of many disorders afecting the liver or bone. However, the approach for patients with low ALP phosphatase is not well-established. Low serum ALP is an epiphenomenon of many severe acute injuries and diseases. Persistently low serum ALP may be secondary to drug therapy (including antiresorptives) or a variety of acquired disorders, such as malnutrition, vitamin and mineral defciencies, endocrine disorders, etc. Hypophosphatasia, due to pathogenic variants of the ALPL gene, which encodes tissue non-specifc ALP, is the most common genetic cause of low serum ALP. Marked bone hypomineralization is frequent in severe pediatric onset cases. However, adult forms of hypophosphatasia usually present with milder manifestations, such as skeletal pain, chondrocalcinosis, calcifc periarthritis, dental problems, and stress fractures. The diagnostic approach to these patients is discussed. Measuring several ALP substrates, such as pyrophosphate, pyridoxal phosphate, or phosphoethanolamine, may help to establish enzyme defciency. Gene analysis showing a pathogenic variant in ALPL may confrm the diagnosis. However, a substantial proportion of patients show normal results after sequencing ALPL exons. It is still unknown if those patients carry unidentifed mutations in regulatory regions of ALPL, epigenetic changes, or abnormalities in other genesSpringer internationalUniversidad de Cantabria20232023-01-01journal articlehttp://purl.org/coar/resource_type/c_6501NAhttp://purl.org/coar/version/c_be7fb7dd8ff6fe43info:eu-repo/semantics/articlehttps://hdl.handle.net/10902/31241Calcified Tissue International and Musculoskeletal Research, 2023, 112, 289-296reponame:UCrea Repositorio Abierto de la Universidad de Cantabriainstname:Universidad de Cantabria (UC)Inglésengopen accesshttp://purl.org/coar/access_right/c_abf2Attribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:repositorio.unican.es:10902/312412026-06-02T12:39:31Z
dc.title.none.fl_str_mv Diagnostic approach to patients with low serum alkaline phosphatase
title Diagnostic approach to patients with low serum alkaline phosphatase
spellingShingle Diagnostic approach to patients with low serum alkaline phosphatase
Riancho Moral, José Antonio|||0000-0003-0691-8755
Alkaline phosphatase
Hypophosphatasia
Hypophosphatasemia
Pyridoxal phosphate
ALPL
42 osteomalacia
title_short Diagnostic approach to patients with low serum alkaline phosphatase
title_full Diagnostic approach to patients with low serum alkaline phosphatase
title_fullStr Diagnostic approach to patients with low serum alkaline phosphatase
title_full_unstemmed Diagnostic approach to patients with low serum alkaline phosphatase
title_sort Diagnostic approach to patients with low serum alkaline phosphatase
dc.creator.none.fl_str_mv Riancho Moral, José Antonio|||0000-0003-0691-8755
author Riancho Moral, José Antonio|||0000-0003-0691-8755
author_facet Riancho Moral, José Antonio|||0000-0003-0691-8755
author_role author
dc.contributor.none.fl_str_mv Universidad de Cantabria
dc.subject.none.fl_str_mv Alkaline phosphatase
Hypophosphatasia
Hypophosphatasemia
Pyridoxal phosphate
ALPL
42 osteomalacia
topic Alkaline phosphatase
Hypophosphatasia
Hypophosphatasemia
Pyridoxal phosphate
ALPL
42 osteomalacia
description Increased serum levels of alkaline phosphatase (ALP) are widely recognized as a biochemical marker of many disorders afecting the liver or bone. However, the approach for patients with low ALP phosphatase is not well-established. Low serum ALP is an epiphenomenon of many severe acute injuries and diseases. Persistently low serum ALP may be secondary to drug therapy (including antiresorptives) or a variety of acquired disorders, such as malnutrition, vitamin and mineral defciencies, endocrine disorders, etc. Hypophosphatasia, due to pathogenic variants of the ALPL gene, which encodes tissue non-specifc ALP, is the most common genetic cause of low serum ALP. Marked bone hypomineralization is frequent in severe pediatric onset cases. However, adult forms of hypophosphatasia usually present with milder manifestations, such as skeletal pain, chondrocalcinosis, calcifc periarthritis, dental problems, and stress fractures. The diagnostic approach to these patients is discussed. Measuring several ALP substrates, such as pyrophosphate, pyridoxal phosphate, or phosphoethanolamine, may help to establish enzyme defciency. Gene analysis showing a pathogenic variant in ALPL may confrm the diagnosis. However, a substantial proportion of patients show normal results after sequencing ALPL exons. It is still unknown if those patients carry unidentifed mutations in regulatory regions of ALPL, epigenetic changes, or abnormalities in other genes
publishDate 2023
dc.date.none.fl_str_mv 2023
2023-01-01
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
NA
http://purl.org/coar/version/c_be7fb7dd8ff6fe43
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://hdl.handle.net/10902/31241
url https://hdl.handle.net/10902/31241
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution-NonCommercial-NoDerivatives 4.0 International
http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution-NonCommercial-NoDerivatives 4.0 International
http://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Springer international
publisher.none.fl_str_mv Springer international
dc.source.none.fl_str_mv Calcified Tissue International and Musculoskeletal Research, 2023, 112, 289-296
reponame:UCrea Repositorio Abierto de la Universidad de Cantabria
instname:Universidad de Cantabria (UC)
instname_str Universidad de Cantabria (UC)
reponame_str UCrea Repositorio Abierto de la Universidad de Cantabria
collection UCrea Repositorio Abierto de la Universidad de Cantabria
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,300719

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