Complement factor H gene polymorphisms and vivax malaria associated thrombotic microangiopathy
Parimal Agrawal1, Ashwani Kumar1, Amber Parwaiz1
1Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Abstract:
Acute kidney injury (AKI) occurs in about 1% of cases of malaria; however, in these cases, the mortality rate can be as high as 45%. Thrombotic microangiopathy (TMA) as a cause of AKI in malaria is rare with only a handful cases documented in literature so far. Alternate complement pathway (ACP) dysregulation as a major mechanism of injury in the development of thrombotic microangiopathies is well known. It is proposed that patients with preexisting defects in ACP are usually clinically silent, until stress condition such as infections help manifest them. Herein, we describe the presence of two complement factor H (CFH) variants in an 8-year-old female with vivax malaria associated TMA. The complement workup confirmed dysregulated ACP and revealed two single-nucleotide polymorphisms in CFH gene, i.e. exon-7 rs1061147 (p.Ala243Ala) and exon-9 rs1061170 (p.His402Tyr) which predisposed this patient to develop TMA precipitated by vivax malaria.
Insights
Malaria can cause acute kidney injury (AKI), and this rare complication, thrombotic microangiopathy (TMA), is linked to complement dysregulation. This case highlights genetic variants in complement factor H (CFH) predisposing to TMA in malaria.
Area of Science:
- Nephrology
- Immunology
- Genetics
Background:
- Acute kidney injury (AKI) affects approximately 1% of malaria cases, with a high mortality rate of up to 45%.
- Thrombotic microangiopathy (TMA) is a rare but severe cause of AKI in malaria patients.
- Dysregulation of the alternate complement pathway (ACP) is a known mechanism in TMA development.
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