Management of a pregnant patient with chylomicronemia from a novel mutation in GPIHBP1: a case report
Autor: | Dan-Dan Yan, Hui Fei, Xiao-Hui Tian, Tian Li, Xiu-Lan Hao, Jian-Lan Yin, Min-Huan Lin |
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Jazyk: | angličtina |
Rok vydání: | 2020 |
Předmět: |
Adult
medicine.medical_specialty Pediatrics Chylomicronemia Reproductive medicine Case Report 030204 cardiovascular system & hematology lcsh:Gynecology and obstetrics Frameshift mutation 03 medical and health sciences 0302 clinical medicine Pregnancy medicine Humans lcsh:RG1-991 Receptors Lipoprotein 030304 developmental biology Hypertriglyceridemia 0303 health sciences business.industry GPIHBP1 Homozygote Obstetrics and Gynecology medicine.disease Pregnancy Complications Pancreatitis Mutation Acute pancreatitis Gestation Female Hyperlipoproteinemia Type I lipids (amino acids peptides and proteins) business |
Zdroj: | BMC Pregnancy and Childbirth, Vol 20, Iss 1, Pp 1-5 (2020) BMC Pregnancy and Childbirth |
ISSN: | 1471-2393 |
Popis: | Background Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive lipid disorder often associated with recurrent episodes of pancreatitis. It is documented in most cases with FCS due to the mutations of key proteins in lipolysis, including LPL, APOC2, APOA5, LMF1 and GPIHBP1. Case presentation We report the successful management of a 35-year-old pregnant woman carrying a novel homozygous frameshift mutation c.48_49insGCGG (p.P17A fs*22) in the GPIHBP1 gene with previous severe episodes of acute pancreatitis triggered by pregnancy, resulting in adverse obstetrical outcomes. With careful monitoring, the patient underwent an uneventful pregnancy and delivered a baby with no anomalies. Conclusions The case report contributes to the understanding of GPIHBP1-deficient familial chylomicronemia syndrome (FCS) and highlights gestational management of FCS patient. |
Databáze: | OpenAIRE |
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