Volume : 7, Issue : 11, 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 :

<p>&nbsp;<span class="NoneA">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.&nbsp; 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 </span><span class="NoneA"><span style="font-family:&quot;Rockwell Condensed&quot;,&quot;serif&quot;">.</span></span><span style="color: rgb(51, 51, 51);">. The disease should have no association with Shiga toxins, and TTP should also be exclude</span></p> <p style="margin: 0in 0in 0.0001pt; background-image: initial; background-position: initial; background-size: initial; background-repeat: initial; background-attachment: initial; background-origin: initial; background-clip: initial; vertical-align: baseline;"><span class="NoneA">&nbsp;33 A year old male patient, came to our emergency department with the chief complaints of decreased urine output and multiple&nbsp; purpuric skin lesions since 2 days and recent history of diarrhoea 15 days back followed by fever 10 days back. <o:p></o:p></span></p> <p><span class="NoneA"><span style="font-size:12.0pt;line-height:107%;font-family:&#10;&quot;Times New Roman&quot;,&quot;serif&quot;;mso-fareast-font-family:&quot;Times New Roman&quot;;mso-fareast-language:&#10;EN-US;mso-bidi-language:AR-SA">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&nbsp; LEVEL- 0.16 (normal range- 0.1-0.4), CPK TOTAL- 52. patient</span><span style="font-size:12.0pt;line-height:107%;&#10;font-family:&quot;Times New Roman&quot;,&quot;serif&quot;;mso-fareast-font-family:Calii;&#10;mso-fareast-theme-font:minor-latin;mso-bidi-theme-font:minor-bidi;mso-fareast-language:&#10;EN-US;mso-bidi-language:AR-SA">&rsquo;s 2D ECHO&nbsp; 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&nbsp; 76.1 AU/ml (normal range 0-20 AU/ml).Patient treated with plasmapheresis and hemodialysis &amp; other supportive theraphy</span></span></p>