Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group

  1. Rush, Eric ORCID logo
  2. brandi, maria luisa ORCID logo
  3. Khan, Aliya 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. Lewiecki, E. Michael ORCID logo
  21. Linglart, Agnès ORCID logo
  22. M'Hiri, Iman ORCID logo
  23. Marini, Francesca ORCID logo
  24. Nunes, Mark ORCID logo
  25. Rockman-Greenberg, Cheryl ORCID logo
  26. roux, christian ORCID logo
  27. Seefried, Lothar 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. Simmons, Jill ORCID logo

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WeightNameValue
1000 Titel
  • Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group
1000 Autor/in
  1. Rush, Eric |
  2. brandi, maria luisa |
  3. Khan, Aliya |
  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. Lewiecki, E. Michael |
  21. Linglart, Agnès |
  22. M'Hiri, Iman |
  23. Marini, Francesca |
  24. Nunes, Mark |
  25. Rockman-Greenberg, Cheryl |
  26. roux, christian |
  27. Seefried, Lothar |
  28. Starling, Susan |
  29. Ward, Leanne M |
  30. Yao, Liang |
  31. Brignardello-Petersen, Romina |
  32. Simmons, Jill |
1000 Verlag
  • Springer London
1000 Erscheinungsjahr 2023
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2023-11-20
1000 Erschienen in
1000 Quellenangabe
  • 35(1):1-10
1000 Copyrightjahr
  • 2023
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1007/s00198-023-06843-2 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10786745/ |
1000 Publikationsstatus
1000 Begutachtungsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • Hypophosphatasia (HPP) is a rare inborn error of metabolism that presents variably in both age of onset and severity. HPP is caused by pathogenic variants in the ALPL gene, resulting in low activity of tissue nonspecific alkaline phosphatase (TNSALP). Patients with HPP tend have a similar pattern of elevation of natural substrates that can be used to aid in diagnosis. No formal diagnostic guidelines currently exist for the diagnosis of this condition in children, adolescents, or adults. The International HPP Working Group is a comprised of a multidisciplinary team of experts from Europe and North America who have expertise in the diagnosis and management of patients with HPP. This group reviewed 93 papers through a Medline, Medline In-Process, and Embase search for the terms 'HPP' and 'hypophosphatasia' between 2005 and 2020 and that explicitly address either the diagnosis of HPP in children, clinical manifestations of HPP in children, or both. Two reviewers independently evaluated each full-text publication for eligibility and studies were included if they were narrative reviews or case series/reports that concerned diagnosis of pediatric HPP or included clinical aspects of patients diagnosed with HPP. This review focused on 15 initial clinical manifestations that were selected by a group of clinical experts.The highest agreement in included literature was for pathogenic or likely pathogenic ALPL variant, elevation of natural substrates, and early loss of primary teeth. The highest prevalence was similar, including these same three parameters and including decreased bone mineral density. Additional parameters had less agreement and were less prevalent. These were organized into three major and six minor criteria, with diagnosis of HPP being made when two major or one major and two minor criteria are present.
1000 Sacherschließung
lokal HPP diagnosis in children
lokal Adolescent [MeSH]
lokal Europe [MeSH]
lokal Mutation [MeSH]
lokal ALPL
lokal hypophosphatasia
lokal Adult [MeSH]
lokal Alkaline Phosphatase/genetics [MeSH]
lokal Humans [MeSH]
lokal Alkaline phosphatase
lokal osteomalacia
lokal Hypophosphatasia/diagnosis [MeSH]
lokal rickets
lokal Review
lokal Prevalence [MeSH]
lokal Hypophosphatasia/genetics [MeSH]
lokal Child [MeSH]
1000 Fächerklassifikation (DDC)
1000 Liste der Beteiligten
  1. https://orcid.org/0000-0002-8147-7315|https://orcid.org/0000-0002-8741-0592|https://orcid.org/0000-0003-3733-8956|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/0000-0003-2026-9587|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/0000-0003-1813-5600|https://orcid.org/0000-0003-1557-9185|https://orcid.org/0000-0003-4068-3136|https://orcid.org/0000-0002-6010-9900|https://orcid.org/0000-0002-4189-6718
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