Background. In recessive dystrophic epidermolysis bullosa (RDEB), a good nutr itional balance is necessary to obtain healing of the chronic wounds. However, i nvolvement of the oral mucosa and oesophagus stenosis may ...Background. In recessive dystrophic epidermolysis bullosa (RDEB), a good nutr itional balance is necessary to obtain healing of the chronic wounds. However, i nvolvement of the oral mucosa and oesophagus stenosis may be responsible for sev ere nutritional deficiencies. Objective. In order to propose an adapted nutritio nal management, we studied the vitamin and trace metal status of 14 RDEB patient s. Methods. Height and weight were measured. Plasma levels of albumin, iron, fer ritin, calcium, parathyroid hormone (PTH), folates, vitamins C, D, B12, A, E, B1 , B6, PP and B2, zinc, selenium, carnitine and copperweremeasured. Results. Most patients had a significant growth retardation. We found iron, vitamin D, C, B6, PP, zinc and selenium deficiencies in 36- 70% of the patients, without clini cal expression, except in one case. Vitamin B1, 12, B2, A/RBP, E/lipids and carn itine were normal. The three patients with gastrostomy feeding had better growth but still a protein deficiency and sometimes vitamin C, B6, PP, zinc and carnit ine deficiencies. Conclusion. Vitamin and trace metal deficiencies are frequent in RDEB, even in patients receiving gastrostomy feeding, and often go unrecogniz ed. Regular nutritional evaluation is necessary. Dietary advice and supplements should be given. Enteral feeding by gastrostomy should be discussed in early chi ldhood.展开更多
文摘Background. In recessive dystrophic epidermolysis bullosa (RDEB), a good nutr itional balance is necessary to obtain healing of the chronic wounds. However, i nvolvement of the oral mucosa and oesophagus stenosis may be responsible for sev ere nutritional deficiencies. Objective. In order to propose an adapted nutritio nal management, we studied the vitamin and trace metal status of 14 RDEB patient s. Methods. Height and weight were measured. Plasma levels of albumin, iron, fer ritin, calcium, parathyroid hormone (PTH), folates, vitamins C, D, B12, A, E, B1 , B6, PP and B2, zinc, selenium, carnitine and copperweremeasured. Results. Most patients had a significant growth retardation. We found iron, vitamin D, C, B6, PP, zinc and selenium deficiencies in 36- 70% of the patients, without clini cal expression, except in one case. Vitamin B1, 12, B2, A/RBP, E/lipids and carn itine were normal. The three patients with gastrostomy feeding had better growth but still a protein deficiency and sometimes vitamin C, B6, PP, zinc and carnit ine deficiencies. Conclusion. Vitamin and trace metal deficiencies are frequent in RDEB, even in patients receiving gastrostomy feeding, and often go unrecogniz ed. Regular nutritional evaluation is necessary. Dietary advice and supplements should be given. Enteral feeding by gastrostomy should be discussed in early chi ldhood.
