A preliminary diagnosis of aHUS is made by a simple blood test (Complete Blood Picture, Hemogram, Complete Blood Counts etc.) that would show the following:
  • Low Hemoglobin
  • Low Platelet Counts
  • Fragmented blood cells or schistocytes on the smear
Further a test for Serum Creatinine or Blood Urea (or BUN - Blood Urea Nitrogen) may also show elevated values. Sometimes a kidney biopsy might be performed to ascertain the diagnosis. In this, the patient is made to lie on his/her stomach and under a local anesthetic, a needle is inserted through the back into the kidneys and a small piece of kidney tissue is extracted to study under the microscope. This procedure is usually painless. However, the patient might need to lie on his/her back for up to a day to prevent any bleeding. Subsequently, on confirmation of aHUS, it is useful to find out which particular genetic abnormality, if any, is involved. For this, blood samples need to be sent to a lab where this testing is carried out. In India, the following lab performs a small subset of the tests (complement factor H, anti-complement factor H antibodies and membrane cofactor protein (CD46)):
  • All India Institute of Medical Sciences Dr. Arvind Bagga 3053, Teaching Block Division of Nephrology, Department of Pediatrics All India Institute of Medical Sciences Ansari Nagar, New Delhi-110029 Phone #: 011-26593472, 011-26594858 arvindbagga@hotmail.com, aditisinhaaiims@gmail.com
Outside India, the following labs perform extensive testing:
  • University of Iowa, USA Patrick Brophy, MD University of Iowa Pediatric Nephrology, Dialysis & Transplantation Office: (319) 384-3090 Fax: (319) 384-3050 U of Iowa Heath Care (319) 356-7249 Iowa City, Iowa patrick-brophy@uiowa.edu
  • Newcastle University, UK
  • Tim Goodship MD Professor of Renal Medicine Institute of Genetic Medicine Newcastle University Central Parkway Newcastle upon Tyne NE1 3BZ UK Telephone 44 191 241 8632 e-mail tim.goodship@ncl.ac.uk
  • Mario Negri Institute, Italy
  • Prof. Giuseppe Remuzzi Mario Negri Institute for Pharmacological Research Centro Anna Maria Astori Science and Technology Park "Kilometro Rosso" Via Stezzano, 87 24126 Bergamo, Italy Tel: 035-42131 Fax: 035-319331 giuseppe.remuzzi@marionegri.it