General Overview
For Medical Professionals
Updated October 2007
The latest discoveries in Human Genetics have been allowed Medical professionels to classify Atypical HUS into 3 major categories. The categories are a) Pneumococcus 2) Genetic (Complement system) and c) Others. It is believed that a majority of the cases are genetic in origin.
As of October 07, there were 4 genes associated with this disorder. They are Factor H, Factor I, Factor B and MCP. The first three genes are responsible for producing proteins that originate in the liver. The fourth, MCP, is not systhesized in the liver, but rather is a protecitve coating that lines the kidneys.
All four factors cause a problem in the complement system, which ends up damaging the endothelium. However, the first three proteins are 'free floating", and therefore the origin can be thought of as originating in the complement system. To be more specific, a dysfunctional level of a factor H, I or B protein fails to shut off the complement system (part of the immune system). This process is not evident until a "trigger" mechanism such as infection, cold, flu sets off a cascasding chain of events. Complement cascade then proceeds to injure microscopic blood vessels, (Microangeaopathic Hemolytic anemia), and thrombosis (clots) occur. The kidney is the organ that seems especially suseptible to these problems.
Doctors Guide
Obviously, a stabilization of the patient is the first priority. Emergency Treatment of the symptoms must be done first in order to save the kidney function.
Once the Treatment plan is in place, anyone experiencing an Atypical HUS Episode should do the following:
First, have a full genetic sequrence of all of the suspect genes run. As of Oct, 07 this includes Factor H, Factor I, Factor B and MCP.
If a suspect Gene is identified, then follow the protocol recommened for that gene.
Second, if the results above are NEGATIGVE, then have a "Factor H Auto immune" study done.
Third, if both of the above prove Negative, then
In Terminology for Parents
What Exactly is Atypical HUS?
Atypical HUS is a rare disease affecting the blood and kidneys, primariily. The simple explanation: Your blood contains platelets, which are necessary to keep you from bleeding. An Atypical hus patient has a problem...the platelets tend to aggregate in the kidneys, and clot up the kidneys. As your kidneys filter the blood, the platelets shear or destroy the red blood cells.
So an Atypical HUS patient will find their Red blood cell count decreasing, their platelet count decreasing, and also shattered red blood cells.
So while the problem originates in the blood, the kidneys are affected as a result of the blood disorder.
What causes the platelets to clot in the wrong place?
That question is at the heart of the problem. A protein deficiency, or simply a protein malfunction, may lie at the heart of the problem. (not the protein you eat, but the proteins in our blood, like Factor H).