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

Autor: Khan AA; Division of Endocrinology and Metabolism, McMaster University, Hamilton, Canada. aliya@mcmaster.ca., Brandi ML; F.I.R.M.O. Italian Foundation for the Research On Bone Diseases, Florence, Italy.; Donatello Bone Clinic, Villa Donatello Hospital, Florence, Italy., Rush ET; Division of Clinical Genetics, Children's Mercy Kansas City, 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.; Department of Pediatrics, University of Missouri-Kansas City School of Medicine, Kansas City, MO, 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 at McMaster University, Hamilton, Canada., Hatcher E; Neuromuscular Clinic, McMaster University Medical Centre, Hamilton Health Sciences, Hamilton, 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; Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA, Trauma Centre Meidling, 1St Medical Department Hanusch Hospital, 1140, Vienna, Austria., Linglart A; APHP, Bicêtre Paris-Sud, UniversityParis 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., Roux C; INSERM CRESS UMR 1153, Paris, France.; Université Paris-Cité, Department of Rheumatology, APHP-Centre, Cochin Hospital, Paris, France., Seefried L; Musculoskeletal Center Wuerzburg, 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, Kansas City, MO, USA., Ward LM; Children's Hospital of Eastern Ontario, Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada., Yao L; Department of Health Research Methods, Evidence and Impact at McMaster University, Hamilton, Canada., Brignardello-Petersen R; Department of Health Research Methods, Evidence and Impact at McMaster University, Hamilton, Canada., Lewiecki EM; New Mexico Clinical Research & Osteoporosis Center, Albuquerque, NM, USA.
Jazyk: angličtina
Zdroj: 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. 431-438. Date of Electronic Publication: 2023 Nov 20.
DOI: 10.1007/s00198-023-06844-1
Abstrakt: 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.
(© 2023. Crown.)
Databáze: MEDLINE
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