Portal Vein Thrombosis in a Preterm Newborn with Mutation of the MTHFR and PAI-1 Genes and Sepsis by Candida parapsilosis.
Objective This report discusses the role of both congenital and acquired risk factors in the pathogenesis of portal vein thrombosis (PVT). Study Design We describe the clinical management and treatment of PVT in a preterm newborn with a homozygous mutation of the methylenetetrahydrofolate reductase (MTHFR) and plasminogen activator inhibitor-1 (PAI-1) genes and sepsis by Candida parapsilosis. Results Although literature data suggest a minor role of genetic factors in thrombophilia in the case of only one mutation, we hypothesize that combined thrombophilic genetic defects may have a cumulative effect and significantly increase the thrombotic risk. Conclusion It could be appropriate to include more detailed analyses of procoagulant and fibrinolytic factors in the diagnostic workup of neonatal thrombosis, also through the investigation of genetic polymorphisms. The anticoagulant therapy and the removal of concurrent risk factors remain basic steps for the adequate management and prevention of complications.
Neonatology and Neonatal Intensive Care Unit, Department of Sciences for Health Promotion and Mother and Child Care, Palermo University, Palermo, Italy.
Mario
M
Giuffrè
Neonatology and Neonatal Intensive Care Unit, Department of Sciences for Health Promotion and Mother and Child Care, Palermo University, Palermo, Italy.
Clelia Lo
CL
Verso
Neonatology and Neonatal Intensive Care Unit, Department of Sciences for Health Promotion and Mother and Child Care, Palermo University, Palermo, Italy.
Gregorio
G
Serra
Neonatology and Neonatal Intensive Care Unit, Department of Sciences for Health Promotion and Mother and Child Care, Palermo University, Palermo, Italy.
Giovanni
G
Moceri
Neonatology and Neonatal Intensive Care Unit, Department of Sciences for Health Promotion and Mother and Child Care, Palermo University, Palermo, Italy.
Marcello
M
Cimador
Neonatology and Neonatal Intensive Care Unit, Department of Sciences for Health Promotion and Mother and Child Care, Palermo University, Palermo, Italy.
Giovanni
G
Corsello
D000925:Anticoagulants / Q000627:therapeutic use; D000074429:Candida parapsilosis / Q000302:isolation & purification; D002177:Candidiasis / Q000150:complications; D005165:Factor V / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics*; D011110:Polymorphism, Genetic; D011169:Portal Vein / Q000000981:diagnostic imaging* / Q000473:pathology; D018805:Sepsis / Q000150:complications* / Q000382:microbiology; D013514:Surgical Procedures, Operative; D020246:Venous Thrombosis / Q000000981:diagnostic imaging / Q000235:genetics / Q000628:therapy*
D000925:Anticoagulants; D017395:Plasminogen Activator Inhibitor 1; C051321:SERPINE1 protein, human; D005165:Factor V; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)