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 CASE REPORT
Year : 2012  |  Volume : 22  |  Issue : 4  |  Page : 298-300

Hereditary ADAMTS 13 deficiency presenting as recurrent acute kidney injury


1 Department of Nephrology, Seth GS Medical College and King Edward Memorial Hospital, Mumbai, India
2 Unit of Genetics for Clinical Research, Mario Negri Institute for Pharmacological Research, Clinical Research Center for Rare Diseases, Aldo e Cele Daccò, Ranica (BG), Italy

Correspondence Address:
T E Jamale
Department of Nephrology, Ward No. 34A, 3rd floor, Old Hospital Building, KEM Hospital, Parel, Mumbai- 12
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-4065.101257

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We report here a case of 26-year-old male who presented with history of recurrent acute renal failure associated with microangiopathic hemolytic anemia and thrombocytopenia. ADAMTS 13 deficiency due to mutation in the gene encoding for ADAMTS 13 was identified as the cause. After eight episodes of acute kidney injury (AKI), patient started developing hypertension, proteinuria, and renal insufficiency. Treatment with regular monthly plasma infusions prevented further episodes of AKI and stabilized the renal function. Hypertension and proteinuria are controlled with angiotensin II receptor blockers.






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