Cobalamin c deficiency associated with antifactor h antibody
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Thrombotic microangiopathy (TMA) syndromes are characterized by the association of hemolytic anemia, thrombocytopenia and organ injury due to arteriolar and capillary thrombosis.

Here reported the first case of adult onset cobalamin C (Cbl C) disease associated with anti-factor H antibody-associated hemolytic uremic syndrome (HUS).A 19-year-old woman was admitted to the nephrology department owing to acute kidney failure, proteinuria, and hemolytic anemia with schizocytes. TMA was diagnosed and plasma exchanges were started in an emergency.

Exhaustive analyses showed circulating anti factor H antibody and hyperhomocysteinemia, hypomethioninemia and high levels of methylmalonic aciduria pointing towards Clb C disease. Cbl C disease has been confirmed by methylmalonic aciduria and homocystinuria type C protein gene sequencing revealing two heterozygous pathogenic variants.
The kidney biopsy showed intraglomerular and intravascular thrombi noticeable thickening of the capillary wall with a duplication aspect of the glomerular basement membrane and a glomerular capillary wall IgM associated with Cbl C disease related TMA.

Treatment including hydroxycobalamin, folinic acid, betaine and levocarnitine and Eculizumab initiated . Rituximab infusions were performed allowing a high decrease in anti-factor H antibody rate.Six month after the disease onset, Eculizumab was weaning and vitamin therapy continued. Outcome was favorable with a dramatic improvement in kidney function.

In conclusion TMA with renal involvement can have a complex combination of risk factors including anti-FH autoantibody in the presence of cblC deficiency.

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T●●●n P●●●l
T●●●n P●●●l General Medicine
Nice information to keep us up to date
Mar 18, 2020Like