PDF(Pubmed)
Abstract：
UNASSIGNED: Primary dyslipidaemia in children is a rare inherited disorder of lipoprotein metabolism with debilitating sequelae and poor outcomes. Lipid-lowering drugs have less often been used in children and long-term outcome studies are scarce. The purpose of this study was to understand the clinical and laboratory profile, response to treatment on follow up and outcome of primary dyslipidaemia in Indian children.
UNASSIGNED: Clinical records, including historical details, examination features and laboratory and radiological evaluation of children diagnosed with primary dyslipidaemia, presenting over the last 9 years were studied. Cascade screening was done for family members of the patients to detect dyslipidaemia in parents and siblings. All children were followed up 3 to 6 monthly for clinical and laboratory evaluation. Diet and drug therapy, initiated as appropriate, were modified as necessary.
UNASSIGNED: Of nine children with primary dyslipidaemia, seen over the last 9 years, homozygous familial hypercholesterolaemia (HoFH) (n = 4/9), familial hypertriglyceridaemia (FHT) (n = 3/9), familial combined hyperlipidemia (FCH) (n = 1/9), mutation proven chylomicronaemia syndrome (n = 1/9) were the phenotypes seen. Multiple xanthomas (n = 4/9), recurrent pancreatitis (n = 2/9) and incidentally found biochemical abnormality (n = 3/9) were the chief presenting features. Medical nutrition therapy and lipid-lowering drugs, as appropriate, were instituted in all. Follow-up over 16 months (range 4 to 90 months) revealed no deaths and no new onset of symptoms. Atherosclerotic plaques in the carotid artery were seen in one child, who presented late, despite fair compliance to treatment. Interestingly, lipid levels decreased in all cases and were normalised in two.
UNASSIGNED: Primary dyslipidaemia when detected early and treated aggressively can improve short-term outcomes.
UNASSIGNED: Clinical records, including historical details, examination features and laboratory and radiological evaluation of children diagnosed with primary dyslipidaemia, presenting over the last 9 years were studied. Cascade screening was done for family members of the patients to detect dyslipidaemia in parents and siblings. All children were followed up 3 to 6 monthly for clinical and laboratory evaluation. Diet and drug therapy, initiated as appropriate, were modified as necessary.
UNASSIGNED: Of nine children with primary dyslipidaemia, seen over the last 9 years, homozygous familial hypercholesterolaemia (HoFH) (n = 4/9), familial hypertriglyceridaemia (FHT) (n = 3/9), familial combined hyperlipidemia (FCH) (n = 1/9), mutation proven chylomicronaemia syndrome (n = 1/9) were the phenotypes seen. Multiple xanthomas (n = 4/9), recurrent pancreatitis (n = 2/9) and incidentally found biochemical abnormality (n = 3/9) were the chief presenting features. Medical nutrition therapy and lipid-lowering drugs, as appropriate, were instituted in all. Follow-up over 16 months (range 4 to 90 months) revealed no deaths and no new onset of symptoms. Atherosclerotic plaques in the carotid artery were seen in one child, who presented late, despite fair compliance to treatment. Interestingly, lipid levels decreased in all cases and were normalised in two.
UNASSIGNED: Primary dyslipidaemia when detected early and treated aggressively can improve short-term outcomes.
摘要：
■儿童原发性血脂异常是一种罕见的遗传性脂蛋白代谢障碍，具有衰弱的后遗症和不良预后。降脂药在儿童中使用较少，长期结果研究很少。这项研究的目的是了解临床和实验室概况，印度儿童原发性血脂异常的随访和结局对治疗的反应。
■临床记录，包括历史细节，诊断为原发性血脂异常的儿童的检查特征以及实验室和放射学评估，对过去9年的介绍进行了研究。对患者的家庭成员进行级联筛查，以检测父母和兄弟姐妹的血脂异常。所有患儿每月随访3～6次，进行临床和实验室评估。饮食和药物治疗，酌情启动，必要时进行了修改。
■在9名患有原发性血脂异常的儿童中，在过去的9年里，纯合子家族性高胆固醇血症（HoFH）（n=4/9），家族性高甘油三酯血症（FHT）（n=3/9），家族性合并高脂血症（FCH）（n=1/9），经突变证实的乳糜微粒血症综合征(n=1/9)是观察到的表型.多发性黄色瘤（n=4/9），复发性胰腺炎（n=2/9）和偶然发现的生化异常（n=3/9）是主要表现特征。医学营养疗法和降脂药物,在适当的情况下,都是建立起来的。16个月（范围4至90个月）的随访显示没有死亡，也没有新的症状发作。一个孩子的颈动脉出现了动脉粥样硬化斑块，迟到的人，尽管公平遵守治疗。有趣的是,所有病例的血脂水平均下降，有2例恢复正常。
■早期发现并积极治疗的原发性血脂异常可改善短期预后。
■临床记录，包括历史细节，诊断为原发性血脂异常的儿童的检查特征以及实验室和放射学评估，对过去9年的介绍进行了研究。对患者的家庭成员进行级联筛查，以检测父母和兄弟姐妹的血脂异常。所有患儿每月随访3～6次，进行临床和实验室评估。饮食和药物治疗，酌情启动，必要时进行了修改。
■在9名患有原发性血脂异常的儿童中，在过去的9年里，纯合子家族性高胆固醇血症（HoFH）（n=4/9），家族性高甘油三酯血症（FHT）（n=3/9），家族性合并高脂血症（FCH）（n=1/9），经突变证实的乳糜微粒血症综合征(n=1/9)是观察到的表型.多发性黄色瘤（n=4/9），复发性胰腺炎（n=2/9）和偶然发现的生化异常（n=3/9）是主要表现特征。医学营养疗法和降脂药物,在适当的情况下,都是建立起来的。16个月（范围4至90个月）的随访显示没有死亡，也没有新的症状发作。一个孩子的颈动脉出现了动脉粥样硬化斑块，迟到的人，尽管公平遵守治疗。有趣的是,所有病例的血脂水平均下降，有2例恢复正常。
■早期发现并积极治疗的原发性血脂异常可改善短期预后。
