Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining, China.
Department of Endocrinology, Affiliated Hospital of Jining Medical University, Jining, China.
Medicine (Baltimore). 2022 Aug 12;101(32):e29689. doi: 10.1097/MD.0000000000029689.
Familial chylomicronemia syndrome (FCS) is a rare genetic disease. FCS usually manifests by the age of 10 years, and 25% of cases of FCS occur during infancy. Here we present a case of FCS in a male infant and summarize our experiences on the diagnosis and therapy of this case.
A male infant aged 1 month and 8 days had recurrent hematochezia and hyperchylomicronemia.
FCS based on symptoms and genetic test.
Plasma exchange therapy.
His development was normal with a good spirit and satisfactory weight gain, and no hematochezia occurred again.
Genetic test is important for accurate diagnosis of FCS, and we identified a new mutation of lipoprotein lipase gene c.88C>A which conformed to autosomal recessive inheritance. Plasma exchange therapy can be applied to infants with FCS with low risk and good outcomes.
家族性乳糜微粒血症综合征（FCS）是一种罕见的遗传性疾病。FCS 通常在 10 岁之前发病，25%的 FCS 病例发生在婴儿期。本文报告了一例男性婴儿 FCS，并总结了我们在该病例诊断和治疗方面的经验。
1 个月 8 天的男性婴儿反复出现血便和高乳糜微粒血症。
根据症状和基因检测结果诊断为 FCS。
血浆置换治疗。
患儿精神状态良好，体重增加满意，发育正常，未再出现血便。
基因检测对 FCS 的准确诊断很重要，我们发现了一个新的脂蛋白脂肪酶基因 c.88C>A 突变，符合常染色体隐性遗传。血浆置换治疗可应用于低风险、疗效好的 FCS 婴儿。
