Abstract
IntroductionCongenital nephrotic syndrome (CNS) is an ultra-rare disease associated with a pro-thrombotic state and venous thromboembolisms (VTE). There is very limited evidence evaluating thromboprophylaxis in patients with CNS. This study aimed to determine the doses and duration of treatment required to achieve adequate thromboprophylaxis in patients with CNS.MethodsFrom 2005 to 2018 children in Scotland with a confirmed genetic or histological diagnosis of CNS were included if commenced on thromboprophylaxis. The primary study endpoint was stable drug monitoring. Secondary outcomes included VTE or significant haemorrhage.ResultsEight patients were included; all initially were commenced on low-molecular weight heparin (enoxaparin). Four patients maintained therapeutic anti-Factor Xa levels (time 3–26 weeks, dose 3.2–5.07 mg/kg/day), and one patient developed a thrombosis (Anti-Factor Xa: 0.27 IU/ml). Four patients were subsequently treated with warfarin. Two patients maintained therapeutic INRs (time 6–11 weeks, dose 0.22–0.25 mg/kg/day), and one patient had two bleeding events (Bleed 1: INR 6, Bleed 2: INR 5.5).ConclusionsAchieving thromboprophylaxis in CNS is challenging. Similar numbers of patients achieved stable anticoagulation on warfarin and enoxaparin. Enoxaparin dosing was nearly double the recommended starting doses for secondary thromboprophylaxis. Bleeding events were all associated with supra-therapeutic anticoagulation.
Highlights
Congenital nephrotic syndrome (CNS) is an ultra-rare disease associated with a pro-thrombotic state and venous thromboembolisms (VTE)
Congenital nephrotic syndrome (CNS) is a rare disease characterised by heavy proteinuria and severe oedema developing within 3 months of birth [1, 2]
Complications arising from severe proteinuria include venous thromboembolism (VTE), recurrent infection, fluid and electrolyte disturbance, and impaired growth [3]
Summary
Congenital nephrotic syndrome (CNS) is an ultra-rare disease associated with a pro-thrombotic state and venous thromboembolisms (VTE). Congenital nephrotic syndrome (CNS) is a rare disease characterised by heavy proteinuria and severe oedema developing within 3 months of birth [1, 2]. Glomerular filtration barrier proteins are defective due to genetic mutations or more rarely secondary to congenital viral infection. Complications arising from severe proteinuria include venous thromboembolism (VTE), recurrent infection, fluid and electrolyte disturbance, and impaired growth [3]. The increased VTE risk is predominantly attributed to urinary loss of proteins important in coagulation regulation, exacerbated by the common requirement in this patient group for long-term central venous access [4,5,6]. Several studies report a VTE prevalence of 10–29% of CNS patients over their disease course; this variability being partly attributed to the marked genotypic and phenotypic variation in CNS [1, 11, 12]
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