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The management of transitional care of patients affected by phenylketonuria in Italy: Review and expert opinion

Biasucci, Giacomo
•
Brodosi, Lucia
•
Bettocchi, Ilaria
altro
Burlina, Alberto
2022
  • journal article

Periodico
MOLECULAR GENETICS AND METABOLISM
Abstract
Phenylketonuria (PKU) is a metabolic inherited disorder in which transition from infancy to adult care is particularly difficult and not sufficiently regulated. According to the scientific literature, only few medical centers offer healthcare assistance for adult patients with PKU that are therefore still treated in pediatric settings. This generates psychological, emotional, and organizational discomfort among patients, leading them to discontinue the follow-up. European guidelines and national consensus documents underline this unmet need and the lack of practical recommendations for a structured transitional pathway in PKU. The aim of this review and expert opinion is to propose good practices for managing the transition period of PKU patients, based on the literature and the experience of a panel of Italian experts in PKU. The consensus of the experts was obtained through the administration of three rounds of surveys and one structured interview. The result is the first proposal of a pathway for an efficient transition of PKU patients. Key steps of the proposed pathway are the "a priori" planning involving the pediatric and adult teams, the acceptance of the patient and his/her family to the process, the preliminary defi-nition of appropriate spaces in the structure, the organization of meetings with the joint team, and the appointment of a transition coordinator. For the first time, the involvement of decision makers and patient associations is proposed.(c) 2022 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY license (http:// creativecommons.org/licenses/by/4.0/).
DOI
10.1016/j.ymgme.2022.04.004
WOS
WOS:000812846500003
Archivio
https://hdl.handle.net/11368/3118730
info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85130316747
https://www.sciencedirect.com/science/article/pii/S1096719222003006?via=ihub
Diritti
open access
license:creative commons
license uri:http://creativecommons.org/licenses/by/4.0/
FVG url
https://arts.units.it/bitstream/11368/3118730/1/1-s2.0-S1096719222003006-main.pdf
Soggetti
  • Daily clinical practi...

  • Italian survey

  • Phenylketonuria

  • Transition of care

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