DeltaF508 CFTR Hetero- and Homozygous Paediatric Patients with Cystic Fibrosis Do Not Differ with Regard to Nutritional Status.

Aleksandra Mędza,Lucyna Konieczna,Agnieszka Szlagatys-Sidorkiewicz,Ilona Olędzka,Katarzyna Sznurkowska,Bartosz Wielgomas,Katarzyna Kaźmierska

doi:10.3390/nu13051402

Aleksandra Mędza, Lucyna Konieczna + Show 5 more

Open Access

https://doi.org/10.3390/nu13051402

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Abstract

The purpose of this study was to compare the nutritional status between deltaF508 CFTR hetero- and homozygous paediatric patients with cystic fibrosis. We assessed the percentage profiles of fatty acids measured in erythrocyte membranes and the serum levels of vitamins A, D3, E and K1 in the studied groups. We also measured the weights and heights and calculated the body mass indexes (BMIs). The studied groups consisted of 34 heterozygous and 30 homozygous patients. No statistically significant differences were found in the serum vitamins or erythrocyte membrane fatty acid profiles between the hetero- and homozygous patient groups, except for heptadecanoic acid (p = 0.038). The mean percentiles of height, weight and BMI did not differ significantly between the two groups. The homozygous and heterozygous paediatric patients with cystic fibrosis were similar in terms of their nutritional statuses.

Highlights

Cystic fibrosis (CF) is inherited in an autosomal recessive manner and it is a typical monogenic disease, yet it may be caused by over 2100 kinds of mutations located in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein, with more still being discovered [2]
Unsaturated and polyunsaturated fatty acids (n-3 and n-6 PUFAs) in the erythrocyte membranes, a statistically significant difference between the homozygous and heterozygous patients was only demonstrated for C17:0-heptadecanoic acid (p = 0.039)
A different study comparing anthropometric parameters in homozygotes and heterozygotes for the deltaF508 CFTR mutation analysed weight and height percentiles and noted no significant differences [18]. Consistent with these results, our study showed that the homo- and heterozygous groups were similar with regard to their body mass indexes (BMIs)

Summary

Introduction

CF is inherited in an autosomal recessive manner and it is a typical monogenic disease, yet it may be caused by over 2100 kinds of mutations located in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein, with more still being discovered [2]. Mutations were grouped into four classes based on the molecular mechanism that affects protein synthesis and its function in different ways and with varying severities [3]. Due to the composite defects in mutant CFTR biology and pleiotropic molecular defects caused by single mutations, modifications of the current classification scheme have been proposed [4], with new classifications categorising the mutations into six [5] or even seven classes [6]. For many of the identified mutations, the disease liability is still unknown, and their functional consequences and clinical severity need to be determined

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