Homocysteine metabolism in children and adolescents with epidermolysis bullosaReport as inadecuate




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BMC Pediatrics

, 16:173

Nutrition, diet, physical health and endocrinology

Abstract

BackgroundEpidermolysis bullosa EB belongs to a family of rare heterogeneous, genetic disorders characterized by blistering of the skin and mucous membranes in response to minor mechanical trauma. The involvement of the oral mucosa and oesophagus stenosis is suggested to be responsible for severe nutritional deficiencies, but few studies have till now considered this aspect. This observational study aimed to evaluate homocysteine status in children and adolescents with EB by assessing total plasma homocysteine tHcy and metabolically related vitamins B6, B12, folate concentrations.

MethodsTwenty EB patients 12 M; age range 0.5−19 years were evaluated for: plasma tHcy, serum B12 and holotranscobalamin HoloTC, the active fraction of B12, serum and erythrocyte folate s-F and Ery-F, respectively, plasma B6 and serum high sensitive C-reactive-protein hsCRP levels. Clinical severity was also evaluated through the Birmingham Epidermolysis Bullosa Severity BEBS score. A sex and age well-matched population was also enrolled.

ResultsEB patients showed tHcy levels higher p = 0.04 and B6 levels lower p = 0.03 than controls. B12, HoloTC, s-F and ery-F concentrations did not differ between patients and controls. Multiple linear regression analysis showed that tHcy levels were independent of the metabolically related vitamins levels. In addition, serum hsCRP levels were higher in EB patients than in controls p = 0.003 and correlated negatively with B6 concentrations r = -0.6; p = 0.009. BEBS score correlated negatively with HoloTC p = 0.022 and B6 p = 0.005 levels and positively with age p = 0.031 and hsCRP levels p < 0.001.

ConclusionsThe assessment of tHcy and metabolically related vitamin levels describes an important aspect of EB patients’ nutritional status which can result essential for their long term care. Monitoring B6 levels in EB patients could be particularly important in order to prevent several complications associated with B6 deficiency and to avoid a B6 excess which sustains an inflammatory condition.

KeywordsEpidermolysis Bullosa Homocysteine Vitamin B6 Holotranscobalamin AbbreviationsBEBSBirmingham Epidermolysis Bullosa Severity

BMIBody mass index

DDEBDominant dystrophic epidermolysis bullosa

DEBDystrophic epidermolysis bullosa

EBEpidermolysis bullosa

EBSEpidermolysis bullosa simplex

EDTAEthylenediaminetetracetic acid

ery-Ferythrocyte

HcyHomocysteine

HHcyHyperhomocysteinemia

HoloTCHolotranscobalamin

hsCRPhigh sensitive C reactive protein

JEBJunctional epidermolysis bullosa

KSKindler syndrome

RDEBRecessive dystrophic epidermolysis bullosa

s-Fserum folate

tHcytotal Hcy levels

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Author: Rachele De Giuseppe - Greta Venturelli - Sophie Guez - Simona Salera - Claudia De Vita - Dario Consonni - Cinzia Dellanoce

Source: https://link.springer.com/







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