Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1

Alternative Names

  • AHUS1
  • AHUS, Susceptibility to, 1
  • Hemolytic Uremic Syndrome, Typical

Associated Genes

Complement Factor H
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WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Haemolytic anaemias

OMIM Number

235400

Mode of Inheritance

Autosomal recessive; Autosomal dominant

Gene Map Locus

1q31.3

Description

Hemolytic-uremic syndrome is a predominantly pediatric condition that consists of the simultaneous triad of acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes. It is classified as either D+ (typical) when it is associated with a preceding diarrheal illness, which in most people is caused by infection with verotoxin-producing E. coli, is self-limiting and nonrecurring, with complete recovery in about 90% of cases, or less commonly non-diarrheal associated D- (atypical), often recurrent and sporadic, and generally with a poor outcome. The syndrome may be sporadic or familial. The familial form of hemolytic-uremic syndrome is generally considered to be an autosomal recessive disorder, but dominant pedigrees have also been reported. Mortality rates are greater than 90% in patients with autosomal dominant disease and 70% in patients with the autosomal recessive form.

Although there are new therapeutic modalities in the horizon for D+HUS, present recommended therapy is merely symptomatic. Parenteral volume expansion may counteract the effect of thrombotic process before development of HUS and attenuate renal injury. Use of antibiotics, antimotility agents, narcotics and non-steroidal anti-inflammatory drugs should be avoided during the acute phase. Prevention is best done by preventing primary STEC infection.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
235400.1.1PalestineMaleYesYes Deceased; Complement deficiency; Hemol...NM_000186.4:c.3572C>THomozygousAutosomal, RecessiveOhali et al. 1998; Ying et al. 1999 Patient belongs to a...
235400.1.2PalestineFemaleYesYes Complement deficiency; Hemolytic anemia...NM_000186.4:c.3572C>THomozygousAutosomal, RecessiveOhali et al. 1998; Ying et al. 1999 Second cousin of 235...
235400.G.1PalestineUnknownYesYes Complement deficiency; Hemolytic anem...NM_000186.4:c.3677_*4delHomozygousAutosomal, RecessiveOhali et al. 1998; Ying et al. 1999; Buddles et al. 2000 Two patients belongi...

Other Reports

Jordan

Hamed (2002) investigated CRF in 202 Jordanian children and found the mean age at onset of CRF to be 7.5 + 3.9 years. Hemolytic uremic syndrome (HUS) accounted for CRF in nine patients (4.5%), eight of whom had the classic (diarrhea-associated) HUS; the other patient had idiopathic HUS.

Kuwait

Al-Eisa and Al-Hajeri (2001) reported 25 children with hemolytic uremic syndrome and noted that the pathogenesis of HUS in Kuwaiti children appeared to be influenced by genetic factors rather than certain environmental pathogens. The authors found that atypical HUS had a higher mortality rate, a definite familial tendency and a high relapse rate and estimated the incidence of HUS in Kuwait at 0.4 per 100,000 children/year.

Qatar

Ehlayel and Akl (1991) described four children (including three males) with HUS who developed muco-cutaneous manifestations of the condition. The children ranged from 20-months to 6-years in age. 

Akl and Hamad (1994) presented an overview of all pediatric renal patients seen in Qatar from 1982-1992. Of the total of 1753 children seen, 15 were diagnosed with HUS. Two of these cases were familial in nature. In addition, one of the patients had a sibling who presented with hemolytic anemia as the sole manifestation. [Akl K, Hamad B. Pediatric kidney disease in Qatar. J Bahrain Med Soc. 2004; 6(1):17-9.]

Saudi Arabia

Mattoo et al. (1989) described a consanguinoeus family affected with hemolytic uremic syndrome.The proband was the only living child of his parents. Three of his siblings had earlier died of HUS. Two other brothers had also died earlier of renal failure of undetermined cause. 

United Arab Emirates

Abou-Chaaban et al. (1997) studied the pattern of pediatric renal diseases among children in the Dubai Emirate during the period from 1991 to 1996. In this period, a total of 712 pediatric patients, including 230 nationals of the United Arab Emirates, were seen with various renal problems. The authors observed four patients with acute renal failure who are nationals of the United Arab Emirates. Some of these cases were caused by hemolytic uremic syndrome following shigella or salmonella enteritis.

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