The Atypical HUS India Foundation: Diagnosis

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: 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, Email: aditisinhaaiims@gmail.com

The following lab also performs some genetic tests:

Genepath Diagnostics: Manikchand Galleria, 7th Floor, Swastik Society Model Colony, Pune, 411016, Maharashtra, India. Phone: +91 20 7153 1631 Mobile: +91 96 2349 5511

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
Mario Negri Institute, Italy