The Atypical HUS Foundation

Just as a deviation from the current activity in the UK in getting eculizumab for the treatment of all aHUS  patients who need it, I am starting this discussion topic.

It is becoming evident that the part of the UK which seems to be a bit of a "hot spot" for aHUS, and the classic CFH genetic defect in particular, is North Devon in the west of England.

Although I am not from there myself I have ancestor who was born there and who is almost certainly the one who passed it on in my family having migrated to South Wales in the mid 19th Century.

If there are any family historians  out there whose family is associated with aHUS and who may emigrated from  North Devon  it would be interesting to see if there is a connection

Some family names of interest include Alford, Ford, Gould, Purchase, Berry 

You never know!

 

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An update on this topic.

Devon in South West England has a population of  just over 1m. By usual aHUS prevalence standards you would expect there were would be less than 3 aHUS patients in Devon, but there are at least 25 ,which means that over 10% of the UK aHUS patient population is in this rural county; although if patients living else where with family links to Devon are taken into account the figure is probably over 15%.  

The following study has concluded however that aHUS is not endemic in the Devon population and so general screening is not needed.

"Prevalence in the General Population of a CFH Sequence Variant Associated with Atypical Haemolytic Uraemic Syndrome in an Extensive Family from Southwest England.

Source

NIHR Exeter Clinical Research Facility, University of Exeter Medical School, Plymouth, UK ; Renal Unit, Royal Devon and Exeter Hospital, Exeter, Plymouth, UK.

Abstract

BACKGROUND/AIMS:

Twenty-five members of a family from the county of Devon in England have been affected by atypical haemolytic uraemic syndrome (aHUS) associated with a CFH mutation (c.3643C>G; p.Arg1215Gly). A 65-year-old male was diagnosed with aHUS after losing a renal transplant to a thrombotic microangiopathy. Subsequent mutation screening revealed the same CFH mutation without him being knowingly related to the local kindred. We designed a study to investigate the prevalence of this mutation in the local area. In addition, we examined the diagnoses of pre-existing haemodialysis patients to determine whether other patients might unknowingly be at risk of carrying the same CFH mutation.

METHODS:

The Exeter Ten Thousand (EXTEND) study aims to recruit 10,000 healthy volunteers over the age of 18 years living within 25 miles of Exeter in Devon. We genotyped DNA from 4,000 EXTEND subjects for CFH c.3643C>G; p.Arg1215Gly. We reviewed the diagnoses of 294 haemodialysis patients in the Devon area and genotyped 7 patients with either end-stage renal disease of unknown aetiology, malignant hypertension or renovascular disease.

RESULTS:

CFH c.3643C>G; p.Arg1215Gly was not detected in any of the 7 haemodialysis patients or the 4,000 individuals within the EXTEND study.

CONCLUSIONS:

We conclude that CFH c.3643C>G; p.Arg1215Gly is not endemic in Devon. This reinforces our existing practice of genotyping only patients with kidney disease and evidence of a thrombotic microangiopathy for this mutation. This is the first study looking at the prevalence of CFH mutations in the general population."

It begs the question however how come this family came to be affected so badly. Some genetic accident  must have happened 200,300 or even 400 years or more ago. That is why if there is an aHUS  family in the USA with the same CFH mutation and which had ancestral roots in North Devon England it might give some clues as to where to look. 

You know, Len, this is very interesting...have you talked to Dr. Smith, University of Iowa?  He has a large sampling of US patients in his, umm, I'll call it, files. Registries might be a good place to begin with this kind of question. 

 Will Dr Smith be at the IOWA meeting this fall?

He has been every year, so far. I have not heard anything to the contrary. We so enjoy him! I think he likes our group too. We have a lot of enthusiasm!

Ever wondered why some people do and others do not in aHUS families on Day 5 in the count down to aHUS awareness day research and genetics is the focus and this aHUSUK blog  features Prof Tim Goodship and a talk he gave about this family

http://ahusuk.org/day-5-to-international-ahus-awareness-day-awarene...

My husband just got genetic testing results confirmed CFHR3.  His father's family is from the Manchester.  Last name Pennington.  

With CFHR3 suggests anti factor h antibodies might be at play too, often related. Pennington is a surname that is seen in the area . There is a place near Wigan called Pennington too- a country park.

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Did you know...

CFH (Serum Complement Factor H) is a regulatory protein. The secreted protein product of CFH consists of 20 repetitive units named "short consensus repeats" or SCRs (each approximately 60 amino acids). In patients with aHUS the last 5 "pearls" in the twenty pearl strand protein, SCR16 - SCR20, should bind to protect cells but do not- they are defective in one or more of the last 5 SCR locations. If they cannot bind or stick to the kidney to protect that tissue, the platelets clump into clots that affect the glomeruli of the kidney -potentially causing acute renal failure.
  
• • • • • • • • • • • •
  
It is estimated that there are about 2 cases of aHUS in the U.S. per 1,000,000 of population, and about 60% of aHUS patients are diagnosed as children. The condition is potentially life threatening, and either can be chronic or can recur at intervals.
  
more factoids...

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