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首页> 外文期刊>Indian journal of clinical biochemistry >An unusual case of familial hyperlipidaemia
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An unusual case of familial hyperlipidaemia

机译:家族性高脂血症的罕见病例

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A 40 days old male baby born to a consanguineous couple was found to have highly viscous and milky serum with caking of chylomicrons on refrigeration of serum. Cholesterol was 889.5 mg/dl (23.04mmol/L) and Triglycerides 12881 mg/dl (141.69mmol/L). He was active and did not have any hepatospleenomegaly, xanthomas or dysmorphic features. Thyroid functions were normal. Lipid electrophoresis showed thick chylomicron band. There was positive family history of hypertriglyceridemia in a first cousin. Both siblings and both parents of the index case had normal lipid profiles. This child was referred to higher centre where he was put on Lipid lowering drugs (Gemfibrozil), Iron drops and special formula for feeding containing medium chain fatty acids.
机译:发现由一对近亲的夫妇出生的40天大的男婴的血清具有高粘性和乳白色,并且在冷冻血清时凝集了乳糜微粒。胆固醇为889.5 mg / dl(23.04mmol / L),甘油三酸酯为12881 mg / dl(141.69mmol / L)。他很活跃,没有肝脾肿大,黄瘤或畸形特征。甲状腺功能正常。脂质电泳显示出较厚的乳糜微粒带。第一表亲有高甘油三酯血症的阳性家族史。索引病例的兄弟姐妹和父母双方的脂质谱均正常。这个孩子被转到更高的中心,在那里他被降脂药物(吉非贝齐),铁滴剂和含有中链脂肪酸的特殊配方奶喂养。

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