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Cardiometabolic and Nutritional Morbidities of a Large, Adult, PKU Cohort from Andalusia
The establishment of national neonatal screening systems has resulted in improved quality of life and life expectancy in patients with phenylketonuria (PKU). This has led to the development of multidisciplinary treatment units for adult patients with PKU. We present a retrospective descriptive study...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8952233/ https://www.ncbi.nlm.nih.gov/pubmed/35334968 http://dx.doi.org/10.3390/nu14061311 |
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author | Dios-Fuentes, Elena Gonzalo Marin, Montserrat Remón-Ruiz, Pablo Benitez Avila, Rosa Bueno Delgado, Maria A Blasco Alonso, Javier Doulatram Gamgaram, Viyei Kishore Olveira, Gabriel Soto-Moreno, Alfonso Venegas-Moreno, Eva |
author_facet | Dios-Fuentes, Elena Gonzalo Marin, Montserrat Remón-Ruiz, Pablo Benitez Avila, Rosa Bueno Delgado, Maria A Blasco Alonso, Javier Doulatram Gamgaram, Viyei Kishore Olveira, Gabriel Soto-Moreno, Alfonso Venegas-Moreno, Eva |
author_sort | Dios-Fuentes, Elena |
collection | PubMed |
description | The establishment of national neonatal screening systems has resulted in improved quality of life and life expectancy in patients with phenylketonuria (PKU). This has led to the development of multidisciplinary treatment units for adult patients with PKU. We present a retrospective descriptive study of a cohort of 90 adult patients (>16 years) with PKU under active follow-up in two reference centers in Andalusia. We analyzed disease severity, treatment type, demographic variables, cardiovascular risk factors, vitamin and hormone profiles, and bone metabolism. The median (interquartile range)age was 29 (23–38) years, 47 (52.2%) were women and 43 (47.8%) were men. Eighty (88.9%) had classical PKU, five (5.6%) moderate PKU, and five (5.6%) mild PKU. Diagnosis was by neonatal screening in 62 (68.9%) of the patients. The rest had late diagnosis. Treatment with sapropterin was given to 18 (20%) patients and diet and nutrition therapy to 72 (80%). There was adequate metabolic control according to Phe levels in 43 (47.78%) patients. Body mass index was 26.61 (22.7–31.1) kg/m(2). Twenty-six (29.2%) patients had obesity, 7 (7.9%) hypertension, 2 (2.2%) type 2 diabetes, 26 (28.89%) dyslipidemia, 14 (15.6%) elevated total cholesterol, 9 (15.8%) decreased high-density lipoprotein cholesterol and 16 (17.8%) hypertriglyceridemia. Seven (10.3%) patients had osteoporosis and 28 (41.17%) osteopenia. Twenty-six (30.6%) had vitamin D (25OH) deficiency and four (4.5%) vitamin B12 deficiency. Although we observed no differences with most vascular risk factors, we found a high prevalence of obesity in relation to the age of the cohort. A continued evaluation of comorbidities in these patients is therefore needed, despite adequate metabolic control. |
format | Online Article Text |
id | pubmed-8952233 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-89522332022-03-26 Cardiometabolic and Nutritional Morbidities of a Large, Adult, PKU Cohort from Andalusia Dios-Fuentes, Elena Gonzalo Marin, Montserrat Remón-Ruiz, Pablo Benitez Avila, Rosa Bueno Delgado, Maria A Blasco Alonso, Javier Doulatram Gamgaram, Viyei Kishore Olveira, Gabriel Soto-Moreno, Alfonso Venegas-Moreno, Eva Nutrients Article The establishment of national neonatal screening systems has resulted in improved quality of life and life expectancy in patients with phenylketonuria (PKU). This has led to the development of multidisciplinary treatment units for adult patients with PKU. We present a retrospective descriptive study of a cohort of 90 adult patients (>16 years) with PKU under active follow-up in two reference centers in Andalusia. We analyzed disease severity, treatment type, demographic variables, cardiovascular risk factors, vitamin and hormone profiles, and bone metabolism. The median (interquartile range)age was 29 (23–38) years, 47 (52.2%) were women and 43 (47.8%) were men. Eighty (88.9%) had classical PKU, five (5.6%) moderate PKU, and five (5.6%) mild PKU. Diagnosis was by neonatal screening in 62 (68.9%) of the patients. The rest had late diagnosis. Treatment with sapropterin was given to 18 (20%) patients and diet and nutrition therapy to 72 (80%). There was adequate metabolic control according to Phe levels in 43 (47.78%) patients. Body mass index was 26.61 (22.7–31.1) kg/m(2). Twenty-six (29.2%) patients had obesity, 7 (7.9%) hypertension, 2 (2.2%) type 2 diabetes, 26 (28.89%) dyslipidemia, 14 (15.6%) elevated total cholesterol, 9 (15.8%) decreased high-density lipoprotein cholesterol and 16 (17.8%) hypertriglyceridemia. Seven (10.3%) patients had osteoporosis and 28 (41.17%) osteopenia. Twenty-six (30.6%) had vitamin D (25OH) deficiency and four (4.5%) vitamin B12 deficiency. Although we observed no differences with most vascular risk factors, we found a high prevalence of obesity in relation to the age of the cohort. A continued evaluation of comorbidities in these patients is therefore needed, despite adequate metabolic control. MDPI 2022-03-21 /pmc/articles/PMC8952233/ /pubmed/35334968 http://dx.doi.org/10.3390/nu14061311 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Dios-Fuentes, Elena Gonzalo Marin, Montserrat Remón-Ruiz, Pablo Benitez Avila, Rosa Bueno Delgado, Maria A Blasco Alonso, Javier Doulatram Gamgaram, Viyei Kishore Olveira, Gabriel Soto-Moreno, Alfonso Venegas-Moreno, Eva Cardiometabolic and Nutritional Morbidities of a Large, Adult, PKU Cohort from Andalusia |
title | Cardiometabolic and Nutritional Morbidities of a Large, Adult, PKU Cohort from Andalusia |
title_full | Cardiometabolic and Nutritional Morbidities of a Large, Adult, PKU Cohort from Andalusia |
title_fullStr | Cardiometabolic and Nutritional Morbidities of a Large, Adult, PKU Cohort from Andalusia |
title_full_unstemmed | Cardiometabolic and Nutritional Morbidities of a Large, Adult, PKU Cohort from Andalusia |
title_short | Cardiometabolic and Nutritional Morbidities of a Large, Adult, PKU Cohort from Andalusia |
title_sort | cardiometabolic and nutritional morbidities of a large, adult, pku cohort from andalusia |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8952233/ https://www.ncbi.nlm.nih.gov/pubmed/35334968 http://dx.doi.org/10.3390/nu14061311 |
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