ter Avest P C, Tytgat G A M, Westra M, Peters M, van den Berg M
Medisch Centrum Alkmaar, afd. Kindergeneeskunde, Postbus 501, 1800 AM Alkmaar.
Ned Tijdschr Geneeskd. 2005 Sep 17;149(38):2125-8.
2 infants, a boy aged 8 weeks and a girl aged 5 months, presented with symptoms of fat-soluble vitamin deficiencies. The first infant had frequently voluminous bowel movements, anaemia and was not thriving; he had anaemia due to vitamin-E deficiency. The second infant had multiple haematomas on the trunk and legs due to a vitamin-K deficiency-related clotting disorder. The sweat test was positive in both cases, confirming the diagnosis of cystic fibrosis. The infants were treated with supplementary pancreatic enzymes and fat-soluble vitamins A, D, E and K. Cystic fibrosis rarely presents with symptoms of fat-soluble vitamin deficiency. However, in cases of unexplained haemolytic anaemia or haemorrhagic disorder due to vitamin E or K deficiencies, respectively, cystic fibrosis should be considered as a possible cause.
两名婴儿，一名8周大的男婴和一名5个月大的女婴，出现了脂溶性维生素缺乏的症状。第一名婴儿经常有大量排便、贫血且发育不良；他因维生素E缺乏而贫血。第二名婴儿因维生素K缺乏相关的凝血障碍，躯干和腿部出现多处血肿。两名婴儿的汗液测试均呈阳性，确诊为囊性纤维化。这两名婴儿接受了补充胰酶以及脂溶性维生素A、D、E和K的治疗。囊性纤维化很少表现出脂溶性维生素缺乏的症状。然而，对于分别因维生素E或K缺乏导致的不明原因溶血性贫血或出血性疾病病例，应考虑囊性纤维化为可能的病因。
