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Year : 2020  |  Volume : 30  |  Issue : 5  |  Page : 342-345

Atypical HUS associated With CFH/CFHR-1 hybrid gene

1 Renal Unit, Department of Medicine, KEM Hospital, Pune, Maharashtra, India
2 Department of Medical Genetics, Gene Path Laboratories, Pune, Maharashtra, India

Correspondence Address:
Dr. Valentine Lobo
Renal Unit, Diamond Jubilee Building, KEM Hospital, Sardar Moodliar Road, Rasta Peth, Pune - 411 011, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijn.IJN_337_19

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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.


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Indian Journal of Nephrology
Published by Wolters Kluwer - Medknow
Online since 20th Sept '07