Importance of Genetic Testing in the Diagnosis and Management of Atypical
Hemolytic Uremic Syndrome
Departments of Anatomy and Pediatrics, All India Institute of Medical Sciences (AIIMS), New Delhi, India
*Corresponding Author: Binata Marik, Departments of Anatomy and Pediatrics, All India Institute of Medical Sciences (AIIMS), New Delhi, India.
August 02, 2022; Published: September 01, 2022
Hemolytic anaemia, thrombocytopenia, and acute renal failure are the three components of hemolytic-uremic syndrome (HUS). Shiga toxin produced by E. coli is the main culprit (STEC HUS). The absence of STEC infection distinguishes atypical HUS (aHUS) from conventional HUS. A normal level of ADAMTS13 can also help distinguish it from thrombotic thrombocytopenic purpura (TTP). Atypical HUS can appear at any age, from infancy to adulthood. The cases with hereditary origins make for about 60% of aHUS. Even after full treatment, these people frequently experience relapse. In about 60% of these instances, end-stage renal failure develops (ESRD).
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