Open AccessComplement factor H gene polymorphisms and vivax malaria associated thrombotic microangiopathy
Author(s) -
Prachi Agrawal,
Ashwani Kumar,
Amber Parwaiz,
Amit Rawat,
Karalanglin Tiewsoh,
Ritambhra Nada
Publication year - 2019
Publication title -
saudi journal of kidney diseases and transplantation/našrat amraḍ wa zira'aẗ al-kulaẗ
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.268
H-Index - 30
eISSN - 2320-3838
pISSN - 1319-2442
DOI - 10.4103/1319-2442.256865
Subject(s) - thrombotic microangiopathy , medicine , malaria , plasmodium vivax , factor h , complement system , immunology , eculizumab , atypical hemolytic uremic syndrome , acute kidney injury , exon , single nucleotide polymorphism , complement factor b , gene , genotype , biology , genetics , antibody , plasmodium falciparum , disease
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.