ATYPICAL HEMOLYTIC UREMIC SYNDROME- A RARE DISORDER

Dr. Ajazahmed Ansari; Dr. Ramesh K. Patel; Dr. Mansukh L. Makavana; Dr. Umesh K. Rathava; Dr. Maulik U. Shah; Dr. Utsav P. Patel

Volume : VII, Issue : XI, November - 2018

ATYPICAL HEMOLYTIC UREMIC SYNDROME- A RARE DISORDER

Dr. Ajazahmed Ansari, Dr. Ramesh K. Patel, Dr. Mansukh L. Makavana, Dr. Umesh K. Rathava, Dr. Maulik U. Shah, Dr. Utsav P. Patel

Abstract :

Atypical Hemolytic uremic syndrome (HUS) is defined by the triad of microangiopathic hemolytic anemia, thrombocytopenia and renal impairment. Atypical HUS is the result of congenital complement dysregulation. The affected patient have low C3 and normal C4 level,.Factor H deficiency, the most common defect, linked to familial with aHUS . Mutations in the genes encoding complement regulatory proteins factor H, memane cofactor protein (MCP), factor I or thrombomodulin have been demonstrated and mutations in the genes of C3 convertase proteins, C3 and factor B,In additionof patients have anti-factor H antibodies .. The disease should have no association with Shiga toxins, and TTP should also be exclude

33 A year old male patient, came to our emergency department with the chief complaints of decreased urine output and multiple purpuric skin lesions since 2 days and recent history of diarrhoea 15 days back followed by fever 10 days back.

On Investigation s.Creatinine 7.28, s.urea 107.40,Hb:9.96,TC:12,200 and PC:78000 SGPT:29 Direct Billrubin:0.8, Indirect Billrubin:1.9 Total Billrubin:2.7 . Other special investigation were done,:Retic count -0.6, S.LDH- 735IU/L (normal range ,248 IU/L), ANA- Negative, C-ANCA- Negative, P-ANCA-Negative, LA - Negative, CRP- Negative, RA- Negative, ASO- Negative, C3 LEVEL- 0.63 (normal range- 0.9-1.83),C4 LEVEL- 0.16 (normal range- 0.1-0.4), CPK TOTAL- 52. patient�s 2D ECHO was normal and his ultrasound abdomen pelvis showed raised cortical echogenecity in both kidneys with preserved Cortico medullary differentiation. confirmative diagnosis was made by ANTI FACTOR H ANTIBODY LEVEL which was 76.1 AU/ml (normal range 0-20 AU/ml).Patient treated with plasmapheresis and hemodialysis & other supportive theraphy