Diagnosis, treatment, and follow-up of patients with hypophosphatasia.

Autor: Cárdenas-Aguilera JG; Subred Integrada de Servicios de Salud Sur Occidente, Bogotá, Colombia. cardenasjg@javeriana.edu., González-López V; Asociación Colegio Colombiano de Endocrinología Pediátrica, Bogotá, Colombia., Zarante-Bahamón AM; Hospital Universitario San Ignacio, Bogotá, Colombia., Prieto-Rivera JC; Pontificia Universidad Javeriana, Facultad de Medicina, Bogotá, Colombia., Baquero-Rodríguez R; Universidad de Antioquia, Facultad de Medicina, Medellín, Colombia., Chacón-Acevedo KR; Grupo de Investigación Traslacional, Keralty, Bogotá, Colombia., Meza-Martínez AI; Instituto Roosevelt, Bogotá, Colombia., Serrano-Gayubo AK; Universidad de Antioquia, Facultad de Medicina, Medellín, Colombia., Medina-Orjuela A; Hospital San José, Bogotá, Colombia., Cáceres-Mosquera JA; Clínica Infantil Santa Maria del Lago, Bogotá, Colombia., Guerrero-Tinoco GA; Universidad de Cartagena, Bolívar, Colombia., García-Rueda MF; Instituto Roosevelt, Bogotá, Colombia., Guarnizo-Zuccardi P; Fundación Cardioinfantil, Bogotá, Colombia., Herrera-Ortiz G; Clínica Comfamiliar, Risaralda, Colombia., Rojas-Barrera C; Fundación Hospital de la Misericordia, Bogotá, Colombia., Carrascal-Guzmán MI; Universidad del Valle, Cali, Colombia., Reina-Ávila MF; Fundación Hospital de la Misericordia, Bogotá, Colombia., Arguinzoniz-Valenzuela SL; Centro Médico ABC, Ciudad de México, México., Belmont-Martínez L; Instituto Nacional De Pediatría, Ciudad de México, México., Del-Pino M; Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Viterbo GL; Sociedad Latinoamericana de Endocrinología Pediátrica, Buenos Aires, Argentina., Seijo M; Instituto de Inmunología, Genética y Metabolismo, Buenos Aires, Argentina., Calzada-Hernández J; Hospital Sant Joan de Déu, Barcelona, España., Guerra-Hernández NE; Hospital General del Centro Médico Nacional La Raza, Ciudad de México, México., Brunetto OH; Hospital de Niños Pedro de Elizalde, Buenos Aires, Argentina.
Jazyk: angličtina
Zdroj: Endocrine [Endocrine] 2024 Dec 12. Date of Electronic Publication: 2024 Dec 12.
DOI: 10.1007/s12020-024-04054-1
Abstrakt: Introduction: Hypophosphatasia is a rare inherited systemic metabolic disorder, with an estimated prevalence in the severe forms of the disease of 1/100.000-1/300.000, that affects the typical architecture of bone, leading to defective mineralization during growth and remodeling. It is characterized by loss-of-function variants in the ALPL gene, resulting in low activity of tissue-nonspecific alkaline phosphatase. In severe cases, it can be fatal.
Objective: To generate recommendations on the diagnosis, treatment, and follow-up of patients with hypophosphatasia based on available evidence.
Materials and Methods: A search for evidence published between 2012 and 2024 was carried out in Medline and Embase. The search was expanded with information from various sources, including official sites of development groups, consensuses, technology evaluations, Google Scholar, clinical experts, and reference lists. The quality of the evidence was evaluated according to the type of document type. A modified Delphi consensus process was carried out with external experts, apart from the development group, it was established an 80% agreement threshold to define the final recommendations.
Results: Sixty-one papers were found in the evidence search. The global quality of the evidence was low. In addition, a consensus was reached on 94 recommendations regarding diagnosis, treatment, and follow-up. Those recommendations were approved by external clinical experts from Colombia, Argentina, Spain, and Mexico.
Conclusions: The recommendations proposed in this document are based on the evidence available to the date the search was carried out, and the judgment of clinical experts. The recommendations on diagnosis, treatment, and follow-up are expected to guide the daily clinical practice for patients with HPP.
Competing Interests: Compliance with ethical standards. Conflict of interest: The authors declare that no funds, grants, or other support were received during the preparation of this manuscript. The authors have no relevant financial or non-financial interests to disclose. J.G.C.A., V.G.L., A.M.Z.B., J.C.P., R.B.R., and P.G.Z. are speakers and have received fees from Alexion and AstraZeneca. K.R.C.A., A.I.M.M., A.K.S.G., A.M.O., J.A.C.M., G.A.G.T., M.F.G.R., G.H.O., C.R.B., M.I.C.G., M.F.R.A., S.L.A.V., L.B.M., M.P., G.L.V., M.S., J.C.H., N.E.G.H., and O.H.B. declare that they have no conflict of interest.
(© 2024. The Author(s).)
Databáze: MEDLINE
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