Complement factor H gene polymorphisms and vivax malaria associated thrombotic microangiopathy

الملخص EN

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 pre- existing 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.