دورية أكاديمية
The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance.
| العنوان: | The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance. |
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| المؤلفون: | Brandi ML; F.I.R.M.O. Italian Foundation for the Research On Bone Diseases, Florence, Italy. marialuisa.brandi@unifi.it.; Donatello Bone Clinic, Villa Donatello Hospital, Florence, Italy. marialuisa.brandi@unifi.it., Khan AA; Division of Endocrinology and Metabolism, McMaster University, Hamilton, Canada., Rush ET; Division of Clinical Genetics, Children's Mercy Kansas City and Department of Pediatrics, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.; Division of Endocrinology, Metabolism, Osteoporosis, and Genetics, Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, KS, USA., Ali DS; Division of Endocrinology and Metabolism, McMaster University, Hamilton, Canada., Al-Alwani H; Division of Endocrinology and Metabolism, McMaster University, Hamilton, Canada., Almonaei K; Division of Endocrinology and Metabolism, McMaster University, Hamilton, Canada., Alsarraf F; Division of Endocrinology and Metabolism, McMaster University, Hamilton, Canada., Bacrot S; Department of Genetics, Centre Hospitalier de Versailles, Hôpital André Mignot, Versailles, France., Dahir KM; Division of Endocrinology and Metabolism, Vanderbilt University Medical Center, Nashville, TN, USA., Dandurand K; Department of Medicine, Endocrinology and Metabolism, Université de Sherbrooke, Sherbrooke, QC, Canada., Deal C; Center for Osteoporosis and Metabolic Bone Disease, Department of Rheumatology, The Cleveland Clinic Foundation, Cleveland, OH, USA., Ferrari SL; Division of Bone Diseases, Department of Internal Medicine Specialties, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland., Giusti F; Donatello Bone Clinic, Villa Donatello Hospital, Florence, Italy., Guyatt G; Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, ON, Canada., Hatcher E; Neuromuscular Clinic, McMaster University Medical Centre, Hamilton Health Sciences, Hamilton, ON, Canada., Ing SW; Division of Endocrinology, Diabetes, & Metabolism, Ohio State University Wexner Medical Center, Columbus, OH, USA., Javaid MK; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK., Khan S; Bone Research and Education Centre, Oakville, ON, Canada., Kocijan R; Trauma Centre Meidling, Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA, 1St Medical Department Hanusch Hospital, 1140, Vienna, Austria., Lewiecki EM; New Mexico Clinical Research & Osteoporosis Center, Albuquerque, NM, USA., Linglart A; APHP, Bicêtre Paris-Sud, University Paris Sud, Paris-Saclay, Le Kremlin Bicêtre, Paris, France., M'Hiri I; Bone Research and Education Centre, Oakville, ON, Canada., Marini F; F.I.R.M.O. Italian Foundation for the Research On Bone Diseases, Florence, Italy., Nunes ME; Division of Medical Genetics and Metabolism, Valley Children's HealthCare, Madera, CA, USA., Rockman-Greenberg C; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada., Seefried L; Musculoskeletal Center Würzburg, University of Würzburg, Würzburg, Germany., Simmons JH; Division of Endocrinology and Metabolism, Vanderbilt University Medical Center, Nashville, TN, USA., Starling SR; Division of Clinical Genetics, Children's Mercy Kansas City and Department of Pediatrics, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Ward LM; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada., Yao L; Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, ON, Canada., Brignardello-Petersen R; Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, ON, Canada., Roux C; INSERM CRESS UMR 1153, Paris, France.; Université Paris-Cité, Department of Rheumatology, APHP-Centre, Cochin Hospital, Paris, France. |
| المصدر: | Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA [Osteoporos Int] 2024 Mar; Vol. 35 (3), pp. 439-449. Date of Electronic Publication: 2023 Nov 20. |
| نوع المنشور: | Journal Article; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Springer International Country of Publication: England NLM ID: 9100105 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1433-2965 (Electronic) Linking ISSN: 0937941X NLM ISO Abbreviation: Osteoporos Int Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: London, UK : Springer International, c1990- |
| مواضيع طبية MeSH: | Hypophosphatasia*/diagnosis , Hypophosphatasia*/epidemiology , Hypophosphatasia*/genetics, Infant ; Adult ; Infant, Newborn ; Humans ; Alkaline Phosphatase/genetics ; Mutation ; Prevalence |
| مستخلص: | Hypophosphatasia (HPP) is an inborn error of metabolism caused by reduced or absent activity of the tissue non-specific alkaline phosphatase (TNSALP) enzyme, resulting from pathogenic variants in the ALPL gene. Clinical presentation of HPP is highly variable, including lethal and severe forms in neonates and infants, a benign perinatal form, mild forms manifesting in adulthood, and odonto-HPP. Diagnosis of HPP remains a challenge in adults, as signs and symptoms may be mild and non-specific. Disease presentation varies widely; there are no universal signs or symptoms, and the disease often remains underdiagnosed or misdiagnosed, particularly by clinicians who are not familiar with this rare disorder. The absence of diagnosis or a delayed diagnosis may prevent optimal management for patients with this condition. Formal guidelines for the diagnosis of adults with HPP do not exist, complicating efforts for consistent diagnosis. To address this issue, the HPP International Working Group selected 119 papers that explicitly address the diagnosis of HPP in adults through a Medline, Medline In-Process, and Embase search for the terms "hypophosphatasia" and "HPP," and evaluated the pooled prevalence of 17 diagnostic characteristics, initially selected by a group of HPP clinical experts, in eligible studies and in patients included in these studies. Six diagnostic findings showed a pooled prevalence value over 50% and were considered for inclusion as major diagnostic criteria. Based on these results and according to discussion and consideration among members of the Working Group, we finally defined four major diagnostic criteria and five minor diagnostic criteria for HPP in adults. Authors suggested the integrated use of the identified major and minor diagnostic criteria, which either includes two major criteria, or one major criterion and two minor criteria, for the diagnosis of HPP in adults. (© 2023. International Osteoporosis Foundation and Bone Health and Osteoporosis Foundation.) |
| التعليقات: | Erratum in: Osteoporos Int. 2024 Mar 18;:. (PMID: 38498158) |
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| فهرسة مساهمة: | Keywords: Diagnostic parameters; HPP diagnosis in adults; Hypophosphatasia; Systematic review |
| المشرفين على المادة: | EC 3.1.3.1 (Alkaline Phosphatase) |
| تواريخ الأحداث: | Date Created: 20231120 Date Completed: 20240215 Latest Revision: 20240318 |
| رمز التحديث: | 20240318 |
| DOI: | 10.1007/s00198-023-06859-8 |
| PMID: | 37982856 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 1433-2965 |
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| DOI: | 10.1007/s00198-023-06859-8 |