Children (Basel, Switzerland) · 2026
Management of Severe Congenital Protein C Deficiency with Continuous Subcutaneous Infusion via Insulin Pump: A Pediatric Case Report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Gentile Angelo, Spacco Giordano, Minuto Nicola, Morsellino Vera, Dallorso Sandro, Molinari Angelo Claudio, Maghnie Mohamad, Bassi Marta, Banov Laura
Аннотация
Severe congenital Protein C deficiency (SCPCD) is a rare autosomal recessive thrombophilia that typically presents in the neonatal period with early-onset life-threatening thrombotic complications. We report the case of a female infant who presented at birth with digital ischemic necrosis and laboratory evidence of consumptive coagulopathy consistent with neonatal purpura fulminans. Severe Protein C deficiency was confirmed by markedly reduced Protein C activity (<0.03 IU/mL) and compound heterozygous variants in the PROC gene. After initial stabilization and intermittent intravenous Protein C replacement, pharmacokinetic assessment showed marked peak-trough variability. Continuous subcutaneous infusion of Protein C concentrate was therefore initiated using a programmable insulin pump in combination with oral anticoagulation. This strategy achieved stable Protein C activity levels, allowed progressive reduction of the weight-adjusted replacement dose, and enabled removal of the central venous catheter. Continuous subcutaneous infusion of Protein C concentrate via an insulin pump, combined with oral anticoagulation, may represent a feasible long-term therapeutic option in selected patients with SCPCD.