Treatment of Dense Deposit Disease with a Defined Pathologic Mutation in the Complement Factor H Gene (CFH)
In patients with dense deposit disease who carry a defined pathologic mutation in the CFH gene, the result is absent or dysfunctional factor H protein — a specific complement pathway defect that shapes the management strategy.
Clinical Scenario
The patient has a defined pathologic mutation in the complement factor H (CFH) gene leading to absent or dysfunctional factor H protein. This complement system defect is the underlying driver in this presentation of dense deposit disease.
Treatment Approach partial
Management in this setting involves a plasma-based intervention to restore the absent or nonfunctional factor H protein. The complete regimen, monitoring schedule, and alternative approaches are detailed in the full protocol.
Clinical Goals
The primary aim is preserved renal function — maintaining or preventing decline as assessed by proteinuria and hematuria. Secondary goals include normalization of alternative complement pathway activity, as reflected by C3/C3d ratios and C3NeF levels.
References
DOI: 10.1681/ASN.2007030356
In patients with defined pathologic mutations of CFH (and perhaps those carrying CFH risk alleles), specific treatment guidelines should include infusion of fresh frozen plasma or plasmapheresis and exchange with plasma, rather than albumin, to provide functionally intact factor H (recombinant factor H is not currently available).
In the presence of pathologic mutations in CFH that lead to absent or dysfunctional factor H protein, plasma infusion should be considered (with the use of recombinant factor H in the future).
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