Physical development and individual metabolic parameters in various forms of congenital epidermolysis bullosa depending on supplementation treatment

Abstract

Congenital epidermolysis bullosa (CEB) is a group of rare genetic diseases of varying severity, which are characterized with the formation of blisters on the skin and/or mucous membranes with minor trauma. In this case, the clinical course of the disease in some cases is aggravated by the development of malnutrition, which further worsens the quality of life of patients.Aim of the study. To assess the physical development and laboratory findings of nutritional status in children with simple (SCEB) and dystrophic forms of CEB (DCEB).Methods and materials. The study included children with SCEB and DCEB at the age of 8 months to 18 years old, treated at the National Medical Research Centre of Children s Health (Moscow, Russia) from January 2018 to January 2019. Anthropometric parameters were assessed in all patients, and a biochemical blood test was performed for total calcium, phosphorus, albumin, and magnesium. Data are presented using the median (Me) and quartiles of 25 % and 75 % [Q25; Q75], as well as the mean (M) and 95 % confidence interval (95 % CI) for variables with a normal distribution.Results. A total of 87 children were included in the study, 70 with DCEB and 17 with SCEB. There were no differences in sex and age between the groups. According to the results of the study, all anthropometric parameters (WAZ, HAZ and BAZ) in children with DCEB were statistically significantly lower (p < 0.001) than in children with SCEB. Although in both forms of CEB the averaged values of WAZ, HAZ and BAZ turned out to be within the normal range, in children with DCEB, a decrease in HAZ less than -2 was noted in 22 children (31%). Moderate protein-energy malnutrition (-3 < BAZ < -2) was detected in 29 patients (41 %), while 20 of them (29%) were diagnosed with severe protein-energy malnutrition (BAZ < -3). Biochemical parameters were within the reference values, however, the levels of albumin and total calcium were statistically significantly reduced in children with DCEB compared with SCEB children (p < 0.001 and p = 0.005, respectively). Hypoalbuminemia was observed in 64 %, and hypocalcemia in 9 % of DCEB children.Conclusion. All anthropometric values in children with DCEB were lower than in children with SCEB. The study of albumin and total calcium level in the blood of children with DCEB can reveal preclinical forms of malnutrition.