Yamamoto Yukiyo, Saito Reiko, Goto Motohide, Araki Shunsuke, Kubo Kazuyasu, Kawagoe Rinko, Kawada Yasusada, Kusuhara Koichi
Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Fukuoka, Japan.
Clin Pediatr Endocrinol. 2012 Apr;21(2):21-7. doi: 10.1297/cpe.21.21. Epub 2012 Mar 24.
A 20-d-old boy was referred to our department because of hyperthyrotropinemia at neonatal mass screening and diagnosed with neonatal transient hyperthyrotropinemia. A follow-up examination when the patient was 5 mo old revealed severe hypercholesterolemia. Familial hypercholesterolemia was first suspected because of the patient's significantly high levels of total and low-density lipoprotein cholesterol. The parent's serum lipid profiles were examined and found to be normal. He was completely breast-fed until 6 mo of age. Breast milk was still the main source of food for a period following weaning. At 14 mo old, the patient was weaned completely from breast milk, and his serum cholesterol levels decreased dramatically. According to the normal lipid profiles of the patient's parents and the spontaneous normalization of serum cholesterol levels after complete weaning from breast milk, breast-feeding was suggested to be responsible for his transient severe hypercholesterolemia. It is well documented that breast-fed infants have higher serum cholesterol levels than formula-fed infants. However, there is no reported case with severe hypercholesterolemia equivalent to or higher than the levels observed in the case of familial hypercholesterolemia. Although the exact mechanism is unknown, it is necessary to consider that a small number of cases develop severe hypercholesterolemia related to breast-feeding.
一名20日龄男婴因新生儿群体筛查时促甲状腺激素血症而转诊至我科，被诊断为新生儿短暂性促甲状腺激素血症。患儿5个月大时的随访检查发现严重高胆固醇血症。由于患儿总胆固醇和低密度脂蛋白胆固醇水平显著升高，首先怀疑为家族性高胆固醇血症。检查其父母的血脂谱，发现均正常。他6个月大之前完全母乳喂养。断奶后的一段时间内，母乳仍是主要食物来源。14个月大时，患儿完全断奶，其血清胆固醇水平大幅下降。根据患儿父母正常的血脂谱以及完全断奶后血清胆固醇水平的自发正常化情况，提示母乳喂养是导致其短暂性严重高胆固醇血症的原因。有充分文献记载，母乳喂养的婴儿血清胆固醇水平高于配方奶喂养的婴儿。然而，尚无报告称有严重高胆固醇血症的病例达到或高于家族性高胆固醇血症病例中观察到的水平。虽然确切机制尚不清楚，但有必要考虑少数病例会出现与母乳喂养相关的严重高胆固醇血症。
