Paper Report for: Han_2022_Medicine.(Baltimore)_101_e29689
Reference
Title: Plasma exchange therapy for familial chylomicronemia syndrome in infant: A case report Han L, Qiang G, Yang L, Kou R, Li Q, Xin M, Liu R, Zhang Z Ref: Medicine (Baltimore), 101:e29689, 2022 : PubMed
INTRODUCTION: 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. PATIENT CONCERNS: A male infant aged 1 month and 8 days had recurrent hematochezia and hyperchylomicronemia. DIAGNOSIS: FCS based on symptoms and genetic test. INTERVENTIONS: Plasma exchange therapy. OUTCOMES: His development was normal with a good spirit and satisfactory weight gain, and no hematochezia occurred again. CONCLUSION: 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.
Han L, Qiang G, Yang L, Kou R, Li Q, Xin M, Liu R, Zhang Z (2022) Plasma exchange therapy for familial chylomicronemia syndrome in infant: A case report Medicine (Baltimore)101: e29689
Han L, Qiang G, Yang L, Kou R, Li Q, Xin M, Liu R, Zhang Z (2022) Medicine (Baltimore)101: e29689