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Auxological and Endocrinological Features in Children and Adolescents with Cystic Fibrosis

Cystic fibrosis (CF) is a multisystem autosomal recessive disease caused by mutations that lead to deficient or dysfunctional CF transmembrane conductance regulator (CFTR) proteins. Patients typically present malnutrition resulting from the malabsorption of fundamental nutrients and recurring lung i...

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Autores principales: Ferrari, Vittorio, Terlizzi, Vito, Stagi, Stefano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9323690/
https://www.ncbi.nlm.nih.gov/pubmed/35887806
http://dx.doi.org/10.3390/jcm11144041
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author Ferrari, Vittorio
Terlizzi, Vito
Stagi, Stefano
author_facet Ferrari, Vittorio
Terlizzi, Vito
Stagi, Stefano
author_sort Ferrari, Vittorio
collection PubMed
description Cystic fibrosis (CF) is a multisystem autosomal recessive disease caused by mutations that lead to deficient or dysfunctional CF transmembrane conductance regulator (CFTR) proteins. Patients typically present malnutrition resulting from the malabsorption of fundamental nutrients and recurring lung infections, with a progressive worsening of the respiratory function. For these reasons, the clinical management of CF requires a multidisciplinary team. From an endocrinological point of view, patients often present major complications, such as diabetes, bone disease, thyroid disorders, delayed growth and puberty, hypogonadism and infertility, which negatively affect their quality of life and, in some cases, significantly reduce life expectancy. These complications can arise as a direct result of CFTR dysfunction and/or as a consequence of a deterioration in the function of the organs affected. The objective of this review is to analyze all the possible endocrinological complications that can occur in patients with CF by evaluating the most recent papers in the literature.
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spelling pubmed-93236902022-07-27 Auxological and Endocrinological Features in Children and Adolescents with Cystic Fibrosis Ferrari, Vittorio Terlizzi, Vito Stagi, Stefano J Clin Med Review Cystic fibrosis (CF) is a multisystem autosomal recessive disease caused by mutations that lead to deficient or dysfunctional CF transmembrane conductance regulator (CFTR) proteins. Patients typically present malnutrition resulting from the malabsorption of fundamental nutrients and recurring lung infections, with a progressive worsening of the respiratory function. For these reasons, the clinical management of CF requires a multidisciplinary team. From an endocrinological point of view, patients often present major complications, such as diabetes, bone disease, thyroid disorders, delayed growth and puberty, hypogonadism and infertility, which negatively affect their quality of life and, in some cases, significantly reduce life expectancy. These complications can arise as a direct result of CFTR dysfunction and/or as a consequence of a deterioration in the function of the organs affected. The objective of this review is to analyze all the possible endocrinological complications that can occur in patients with CF by evaluating the most recent papers in the literature. MDPI 2022-07-13 /pmc/articles/PMC9323690/ /pubmed/35887806 http://dx.doi.org/10.3390/jcm11144041 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 Review
Ferrari, Vittorio
Terlizzi, Vito
Stagi, Stefano
Auxological and Endocrinological Features in Children and Adolescents with Cystic Fibrosis
title Auxological and Endocrinological Features in Children and Adolescents with Cystic Fibrosis
title_full Auxological and Endocrinological Features in Children and Adolescents with Cystic Fibrosis
title_fullStr Auxological and Endocrinological Features in Children and Adolescents with Cystic Fibrosis
title_full_unstemmed Auxological and Endocrinological Features in Children and Adolescents with Cystic Fibrosis
title_short Auxological and Endocrinological Features in Children and Adolescents with Cystic Fibrosis
title_sort auxological and endocrinological features in children and adolescents with cystic fibrosis
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9323690/
https://www.ncbi.nlm.nih.gov/pubmed/35887806
http://dx.doi.org/10.3390/jcm11144041
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