Open AccessAtypical HUS associated With CFH/CFHR-1 hybrid gene
Author(s) -
Sharon Negi,
Vipul Chakurkar,
Meenal Agarwal,
Valentine Lobo
Publication year - 2020
Publication title -
indian journal of nephrology/indian journal of nephrology
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.317
H-Index - 24
eISSN - 1998-3662
pISSN - 0971-4065
DOI - 10.4103/ijn.ijn_347_19
Subject(s) - thrombotic microangiopathy , medicine , microhematuria , exon , hemodialysis , atypical hemolytic uremic syndrome , eculizumab , dialysis , alternative complement pathway , renal biopsy , gene , complement system , immunology , pathology , gastroenterology , biopsy , antibody , kidney , genetics , biology , proteinuria , disease
Atypical hemolytic uremic syndrome is a rare form of thrombotic microangiopathy caused by complement pathogenic variants. We describe a case of a 33-year-old woman who presented as rapidly progressing renal failure requiring dialysis and had anemia, microhematuria, low C3, normal C4 levels, and normal platelet count. Renal biopsy revealed arteriolar thrombotic microangiopathy and acute tubular injury. Patient was treated with plasma exchange and hemodialysis as required. This resulted in partial recovery at 1 month. Genetic workup by multiplex ligation-dependent probe amplification revealed a 1.5 times higher signal intensity on downstream region of CFH gene and 50% reduced intensity of exon 6 of CFHR1 gene, suggesting a gene conversion event, similar to those previously reported from Spain and Portugal.