PKU and COVID19: How the pandemic changed metabolic control

Rovelli, Valentina; Zuvadelli, Juri; Ercoli, Vittoria; Montanari, Chiara; Paci, Sabrina; Dionigi, Alice Re; Scopari, Andrea; Salvatici, E.; Cefalo, Graziella; Banderali, Giuseppe

doi:10.1016/j.ymgmr.2021.100759

Cited by 8 publications

(10 citation statements)

References 14 publications

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“…Especially for teens but probably for the majority of paediatric PKU patients an active, communication-seeking follow-up e.g. by low-threshold reminders sent by digital messaging services or by e-mail [ 18 ] as well as structured telemedicine appointments [ 22 – 24 ] would most probably have been helpful to improve adherence and patient satisfaction [ 22 – 25 ].…”

Section: Discussionmentioning

confidence: 99%

“…In other settings e.g. in Turkey [ 22 ] or in Italy [ 24 ] it proved to be an effective tool during the pandemic. The authors reported more Phe concentrations in the target ranges [ 22 , 24 ].…”

Section: Discussionmentioning

confidence: 99%

“…in Turkey [ 22 ] or in Italy [ 24 ] it proved to be an effective tool during the pandemic. The authors reported more Phe concentrations in the target ranges [ 22 , 24 ]. Main characteristic of the systems employed here were timely measurement of and comment on Phe values from DBS with recommendations on how to proceed further [ 22 ] and a complete and effective switch from in-person to remote consultations [ 24 ].…”

Section: Discussionmentioning

confidence: 99%

“…The authors reported more Phe concentrations in the target ranges [ 22 , 24 ]. Main characteristic of the systems employed here were timely measurement of and comment on Phe values from DBS with recommendations on how to proceed further [ 22 ] and a complete and effective switch from in-person to remote consultations [ 24 ]. In Austria, a generally similar system with short Phe measurement turnaround times is the established way of care for PKU patients.…”

Section: Discussionmentioning

confidence: 99%

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A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria

Herle

Brunner‐Krainz

Goeschl

et al. 2021

Orphanet J Rare Dis

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Background In classical phenylketonuria (PKU) phenylalanine (Phe) accumulates due to functional impairment of the enzyme phenylalanine hydroxylase caused by pathogenic variants in the PAH gene. PKU treatment prevents severe cognitive impairment. Blood Phe concentration is the main biochemical monitoring parameter. Between appointments and venous blood sampling, Austrian PKU patients send dried blood spots (DBS) for Phe measurements to their centre. Coronavirus disease-19 (COVID-19), caused by the SARS CoV-2 virus, was classified as a pandemic by the World Health Organization in March 2020. In Austria, two nationwide lockdowns were installed during the first and second pandemic wave with variable regional and national restrictions in between. This retrospective questionnaire study compared the frequency of Phe measurements and Phe concentrations during lockdown with the respective period of the previous year in children and adolescents with PKU and explored potential influencing factors. Results 77 patients (30 female, 47 male; mean age 12.4 [8–19] years in 2020) from five centres were included. The decline of venous samples taken on appointments in 2020 did not reach significance but the number of patients with none or only one DBS tripled from 4 (5.2%) in 2019 to 12 (15.6%) in 2020. Significantly more patients had a decline than a rise in the number of DBS sent in between 2019 and 2020 (p < 0.001; Chi2 = 14.79). Especially patients ≥ 16 years sent significantly less DBS in 2020 (T = 156, p = 0.02, r = 0.49). In patients who adhered to DBS measurements, Phe concentrations remained stable. Male or female sex and dietary only versus dietary plus sapropterin treatment did not influence frequency of measurements and median Phe. Conclusion During the COVID pandemic, the number of PKU patients who stopped sending DBS to their metabolic centre increased significantly, especially among those older than 16 years. Those who kept up sending DBS maintained stable Phe concentrations. Our follow-up system, which is based on DBS sent in by patients to trigger communication with the metabolic team served adherent patients well. It failed, however, to actively retrieve patients who stopped or reduced Phe measurements.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria

Herle

Brunner‐Krainz

Goeschl

et al. 2021

Orphanet J Rare Dis

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“…The COVID-19 pandemic strongly impacted the lives of patients affected by chronic diseases, including those affected by inborn errors of metabolism such as phenylketonuria (PKU) and hyperphenylalaninemia (HPA) [1][2][3].…”

Section: Introductionmentioning

confidence: 99%

Telehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia

et al. 2021

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Phenylketonuria (PKU) and Hyperphenylalaninemia (HPA) are inborn errors of metabolism (IEM) due to mutations in the PAH gene resulting in increased blood phenylalanine (Phe) concentrations. Depending on the Phe levels, a lifelong dietary intervention may be needed. During the COVID-19 pandemic, finding new strategies to ensure follow-up and metabolic control for such patients became mandatory and telehealth was identified as the most eligible tool to provide care and assistance beyond barriers. The aim of this study was to evaluate how telehealth use may have impacted disease follow-ups. Seven hundred and fifty-five patients affected by PKU/HPA in follow-ups at the Clinical Department of Pediatrics (San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, Italy) were included in this study. The data regarding the used telehealth model, type of performed consultations and patients’ perspectives were retrospectively collected and analyzed after a one-year experience of implemented follow-ups. The results demonstrated that telehealth seemed to be a useful tool to improve the adherence to treatment and that it could guarantee continuous assistance and care beyond the surrounding epidemiological status. Patients expressed great satisfaction with the offered services and requested that they were implemented in standards of care on a long-term basis. Our results suggested the implementation of telehealth in the management guidelines for PKU/HPA patients.

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Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach

Burton

Hermida

Bélanger-Quintana

et al. 2022

Molecular Genetics and Metabolism

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PKU and COVID19: How the pandemic changed metabolic control

Cited by 8 publications

References 14 publications

A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria

A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria

Telehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia

Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach

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