Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults

  1. Khan, Aliya ORCID logo
  2. brandi, maria luisa ORCID logo
  3. Rush, Eric ORCID logo
  4. Ali, Dalal S. ORCID logo
  5. Al-alwani, Hatim ORCID logo
  6. Almonei, Khulod ORCID logo
  7. Alsarraf, Farah ORCID logo
  8. Bacrot, Séverine ORCID logo
  9. Dahir, Kathryn McCrystal ORCID logo
  10. Dandurand, Karel ORCID logo
  11. Deal, Chad ORCID logo
  12. ferrari, serge ORCID logo
  13. Giusti, Francesca ORCID logo
  14. Guyatt, Gordon ORCID logo
  15. Hatcher, Erin ORCID logo
  16. Ing, Steven ORCID logo
  17. Javaid, Muhammad ORCID logo
  18. Khan, Sarah ORCID logo
  19. Kocijan, Roland ORCID logo
  20. Linglart, Agnès ORCID logo
  21. M'Hiri, Iman ORCID logo
  22. Marini, Francesca ORCID logo
  23. Nunes, Mark ORCID logo
  24. Rockman-Greenberg, Cheryl ORCID logo
  25. roux, christian ORCID logo
  26. Seefried, Lothar ORCID logo
  27. Simmons, Jill ORCID logo
  28. Starling, Susan ORCID logo
  29. Ward, Leanne M ORCID logo
  30. Yao, Liang ORCID logo
  31. Brignardello-Petersen, Romina ORCID logo
  32. Lewiecki, E. Michael ORCID logo

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WeightNameValue
1000 Titel
  • Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults
1000 Autor/in
  1. Khan, Aliya |
  2. brandi, maria luisa |
  3. Rush, Eric |
  4. Ali, Dalal S. |
  5. Al-alwani, Hatim |
  6. Almonei, Khulod |
  7. Alsarraf, Farah |
  8. Bacrot, Séverine |
  9. Dahir, Kathryn McCrystal |
  10. Dandurand, Karel |
  11. Deal, Chad |
  12. ferrari, serge |
  13. Giusti, Francesca |
  14. Guyatt, Gordon |
  15. Hatcher, Erin |
  16. Ing, Steven |
  17. Javaid, Muhammad |
  18. Khan, Sarah |
  19. Kocijan, Roland |
  20. Linglart, Agnès |
  21. M'Hiri, Iman |
  22. Marini, Francesca |
  23. Nunes, Mark |
  24. Rockman-Greenberg, Cheryl |
  25. roux, christian |
  26. Seefried, Lothar |
  27. Simmons, Jill |
  28. Starling, Susan |
  29. Ward, Leanne M |
  30. Yao, Liang |
  31. Brignardello-Petersen, Romina |
  32. Lewiecki, E. Michael |
1000 Verlag
  • Springer London
1000 Erscheinungsjahr 2023
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2023-11-20
1000 Erschienen in
1000 Quellenangabe
  • 35(3):431-438
1000 Copyrightjahr
  • 2023
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1007/s00198-023-06844-1 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11031461/ |
1000 Publikationsstatus
1000 Begutachtungsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • Background!#!This manuscript provides a summary of the current evidence to support the criteria for diagnosing a child or adult with hypophosphatasia (HPP). The diagnosis of HPP is made on the basis of integrating clinical features, laboratory profile, radiographic features of the condition, and DNA analysis identifying the presence of a pathogenic variant of the tissue nonspecific alkaline phosphatase gene (ALPL). Often, the diagnosis of HPP is significantly delayed in both adults and children, and updated diagnostic criteria are required to keep pace with our evolving understanding regarding the relationship between ALPL genotype and associated HPP clinical features.!##!Methods!#!An International Working Group (IWG) on HPP was formed, comprised of a multidisciplinary team of experts from Europe and North America with expertise in the diagnosis and management of patients with HPP. Methodologists (Romina Brignardello-Petersen and Gordon Guyatt) and their team supported the IWG and conducted systematic reviews following the GRADE methodology, and this provided the basis for the recommendations.!##!Results!#!The IWG completed systematic reviews of the literature, including case reports and expert opinion papers describing the phenotype of patients with HPP. The published data are largely retrospective and include a relatively small number of patients with this rare condition. It is anticipated that further knowledge will lead to improvement in the quality of genotype-phenotype reporting in this condition.!##!Conclusion!#!Following consensus meetings, agreement was reached regarding the major and minor criteria that can assist in establishing a clinical diagnosis of HPP in adults and children.
1000 Sacherschließung
lokal Mutation [MeSH]
lokal Major criteria
lokal Adult [MeSH]
lokal Alkaline Phosphatase/genetics [MeSH]
lokal Humans [MeSH]
lokal Retrospective Studies [MeSH]
lokal Hypophosphatasia/diagnosis [MeSH]
lokal Hypophosphatasia
lokal Minor criteria
lokal Review
lokal Genotype [MeSH]
lokal Diagnosis
lokal Phenotype [MeSH]
lokal Hypophosphatasia/genetics [MeSH]
lokal Child [MeSH]
1000 Fächerklassifikation (DDC)
1000 Liste der Beteiligten
  1. https://orcid.org/0000-0003-3733-8956|https://orcid.org/0000-0002-8741-0592|https://orcid.org/0000-0002-8147-7315|https://orcid.org/0000-0002-5378-5548|https://orcid.org/0000-0001-9036-7903|https://orcid.org/0000-0002-7293-2654|https://orcid.org/0000-0001-9426-9702|https://orcid.org/0000-0001-9311-5664|https://orcid.org/0000-0002-9980-9138|https://orcid.org/0000-0003-1759-8419|https://orcid.org/0000-0002-7591-4718|https://orcid.org/0000-0002-1372-4417|https://orcid.org/0000-0002-8576-9606|https://orcid.org/0000-0003-2352-5718|https://orcid.org/0000-0002-3638-4742|https://orcid.org/0000-0002-4343-6723|https://orcid.org/0000-0001-7985-0048|https://orcid.org/0000-0003-3604-303X|https://orcid.org/0000-0002-2618-1546|https://orcid.org/0000-0003-3455-002X|https://orcid.org/0000-0002-6151-3366|https://orcid.org/0000-0002-3678-4922|https://orcid.org/0000-0001-6338-1726|https://orcid.org/0000-0002-4741-8442|https://orcid.org/0000-0002-9598-9346|https://orcid.org/0000-0003-1154-3388|https://orcid.org/0000-0002-4189-6718|https://orcid.org/0000-0003-1813-5600|https://orcid.org/0000-0003-1557-9185|https://orcid.org/0000-0003-4068-3136|https://orcid.org/0000-0002-6010-9900|https://orcid.org/0000-0003-2026-9587
1000 Hinweis
  • DeepGreen-ID: f99c144f2a7e43cc818efb55603b886f ; metadata provieded by: DeepGreen (https://www.oa-deepgreen.de/api/v1/), LIVIVO search scope life sciences (http://z3950.zbmed.de:6210/livivo), Crossref Unified Resource API (https://api.crossref.org/swagger-ui/index.html), to.science.api (https://frl.publisso.de/), ZDB JSON-API (beta) (https://zeitschriftendatenbank.de/api/), lobid - Dateninfrastruktur für Bibliotheken (https://lobid.org/resources/search)
1000 Label
1000 Förderer
  1. Alexion Pharmaceuticals |
  2. International Osteoporosis Foundation |
1000 Fördernummer
  1. -
  2. -
1000 Förderprogramm
  1. -
  2. -
1000 Dateien
1000 Förderung
  1. 1000 joinedFunding-child
    1000 Förderer Alexion Pharmaceuticals |
    1000 Förderprogramm -
    1000 Fördernummer -
  2. 1000 joinedFunding-child
    1000 Förderer International Osteoporosis Foundation |
    1000 Förderprogramm -
    1000 Fördernummer -
1000 Objektart article
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1000 @id frl:6507134.rdf
1000 Erstellt am 2025-02-06T13:26:14.130+0100
1000 Erstellt von 322
1000 beschreibt frl:6507134
1000 Zuletzt bearbeitet 2025-07-30T11:35:30.029+0200
1000 Objekt bearb. Wed Jul 30 11:35:30 CEST 2025
1000 Vgl. frl:6507134
1000 Oai Id
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1000 Sichtbarkeit Metadaten public
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