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Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective

The ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) and ATP-binding cassette subfamily C member 6 (ABCC6) proteins play a prominent role in inhibiting ectopic calcification and arterial stenosis. Patients with ENPP1 Deficiency or infant onset ABCC6 Deficiency often present w...

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Autores principales: O’Brien, Christine, Khursigara, Gus, Huertas, Pedro, Leiro, Beth, Molloy, Liz, Nester, Catherine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9328542/
https://www.ncbi.nlm.nih.gov/pubmed/35895733
http://dx.doi.org/10.1371/journal.pone.0270632
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author O’Brien, Christine
Khursigara, Gus
Huertas, Pedro
Leiro, Beth
Molloy, Liz
Nester, Catherine
author_facet O’Brien, Christine
Khursigara, Gus
Huertas, Pedro
Leiro, Beth
Molloy, Liz
Nester, Catherine
author_sort O’Brien, Christine
collection PubMed
description The ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) and ATP-binding cassette subfamily C member 6 (ABCC6) proteins play a prominent role in inhibiting ectopic calcification and arterial stenosis. Patients with ENPP1 Deficiency or infant onset ABCC6 Deficiency often present with pathological calcification, narrowed blood vessels, multiorgan dysfunction and high infant mortality. The heterogenous presentation and progression is well documented. Our objective was to characterize how these morbidities lead to burden of illness and poor quality of life across ages from the patient/caregiver perspective. Patients/caregivers were interviewed via phone using Institutional Review Board–approved questionnaires. Patient-reported outcomes were collected via validated instruments. Thirty-one caregivers and 7 patients participated: infant onset ABCC6 Deficiency, n = 6 (infants/children); ENPP1 Deficiency, n = 32 (13 infants, 12 children, 7 adults). ENPP1 and ABCC6-deficient children aged <8 years and aged 8–18 years reported poor school functioning (0.69 vs 0.72 effect size, respectively) and poor physical health (0.88 vs 1, respectively). In the total ENPP1 cohort, 72% (23/32) reported bone/joint pain and/or mobility/fatigue issues. Three of seven ENPP1-deficient adults reported moderate to severe pain (>4), as measured by the Brief Pain Inventory (BPI), that interfered with daily activities despite pain medication. Top reported burdens for caregivers of infants with ABCC6/ENPP1 Deficiencies included heart-related issues and hospitalizations. Treatment/medications, and hearing loss were the highest burdens reported by caregivers/families of the pediatric ENPP1 Deficiency cohort, whereas adults reported bone/joint pain and mobility impairment as the greatest burdens. Individuals with ENPP1 Deficiency or infant onset ABCC6 Deficiency experience lifelong morbidity causing substantial physical and emotional burden to patients/caregivers.
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spelling pubmed-93285422022-07-28 Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective O’Brien, Christine Khursigara, Gus Huertas, Pedro Leiro, Beth Molloy, Liz Nester, Catherine PLoS One Research Article The ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) and ATP-binding cassette subfamily C member 6 (ABCC6) proteins play a prominent role in inhibiting ectopic calcification and arterial stenosis. Patients with ENPP1 Deficiency or infant onset ABCC6 Deficiency often present with pathological calcification, narrowed blood vessels, multiorgan dysfunction and high infant mortality. The heterogenous presentation and progression is well documented. Our objective was to characterize how these morbidities lead to burden of illness and poor quality of life across ages from the patient/caregiver perspective. Patients/caregivers were interviewed via phone using Institutional Review Board–approved questionnaires. Patient-reported outcomes were collected via validated instruments. Thirty-one caregivers and 7 patients participated: infant onset ABCC6 Deficiency, n = 6 (infants/children); ENPP1 Deficiency, n = 32 (13 infants, 12 children, 7 adults). ENPP1 and ABCC6-deficient children aged <8 years and aged 8–18 years reported poor school functioning (0.69 vs 0.72 effect size, respectively) and poor physical health (0.88 vs 1, respectively). In the total ENPP1 cohort, 72% (23/32) reported bone/joint pain and/or mobility/fatigue issues. Three of seven ENPP1-deficient adults reported moderate to severe pain (>4), as measured by the Brief Pain Inventory (BPI), that interfered with daily activities despite pain medication. Top reported burdens for caregivers of infants with ABCC6/ENPP1 Deficiencies included heart-related issues and hospitalizations. Treatment/medications, and hearing loss were the highest burdens reported by caregivers/families of the pediatric ENPP1 Deficiency cohort, whereas adults reported bone/joint pain and mobility impairment as the greatest burdens. Individuals with ENPP1 Deficiency or infant onset ABCC6 Deficiency experience lifelong morbidity causing substantial physical and emotional burden to patients/caregivers. Public Library of Science 2022-07-27 /pmc/articles/PMC9328542/ /pubmed/35895733 http://dx.doi.org/10.1371/journal.pone.0270632 Text en © 2022 O’Brien et al https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
O’Brien, Christine
Khursigara, Gus
Huertas, Pedro
Leiro, Beth
Molloy, Liz
Nester, Catherine
Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective
title Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective
title_full Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective
title_fullStr Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective
title_full_unstemmed Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective
title_short Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective
title_sort lifelong impact of enpp1 deficiency and the early onset form of abcc6 deficiency from patient or caregiver perspective
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9328542/
https://www.ncbi.nlm.nih.gov/pubmed/35895733
http://dx.doi.org/10.1371/journal.pone.0270632
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