Hemolytic uremic syndrome, atypical, susceptibility to, 1

Preferred Label : Hemolytic uremic syndrome, atypical, susceptibility to, 1;

Symbol : AHUS1;

CISMeF acronym : AHUS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ahus, susceptibility to, 1;

Included titles and symbols : Hemolytic uremic syndrome, typical;

Description : Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported (Goodship et al., 1997; Taylor, 2001; Veyradier et al., 2003; Noris et al., 2003). Noris and Remuzzi (2009) provided a detailed review of atypical HUS. - Genetic Heterogeneity of Atypical Hemolytic Uremic Syndrome Atypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system (Jozsi et al., 2008). See AHUS2 (612922), AHUS3 (612923), AHUS4 (612924), AHUS5 (612925), and AHUS6 (612926). AHUS7 (see 615008) is caused by mutation in the DGKE gene (601440), which is not part of the complement cascade system.;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Susceptibility conferred by deletion that includes the complement factor H-related 1 gene (CFHR1, 134371.0001) and complement factor H-related 3 gene (CFHR3, 605366.0001); Susceptibility conferred by mutation in the complement factor H gene (CHF, 134370.0001);

Laboratory abnormalities : Decreased hemoglobin; Decreased serum C3 (atypical HUS); Increased creatinine; Decreased serum factor H (atypical HUS); Decreased serum factor I (atypical HUS); Decreased serum factor B (atypical HUS); Increased blood urea nitrogen (BUN); Hyperlipidemia; Normal activity of von Willebrand factor-cleaving protease;

Prefixed ID : #235400;

Details

Origin ID

235400;

UMLS CUI

C2749604;

Automatic exact mappings (from CISMeF team)
- Atypical hemolytic uremic syndrome [ORDO Disease]
- Atypical hemolytic uremic syndrome with H factor anomaly [ORDO Disease]
- Atypical hemolytic uremic syndrome with anti-factor H antibodies [ORDO Disease]
- CFH wt Allele [NCIt concept]
- Shiga toxin-associated hemolytic uremic syndrome [ORDO Disease]
Genes related to phenotype
- Complement factor h [OMIM gene]
- Complement factor h-related 1 [OMIM gene]
- Complement factor h-related 3 [OMIM gene]
HPO term(s)
- Acute kidney injury [HPO term]
- Anuria [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cognitive defects [HPO term]
- Cognitive impairment [HPO term]
- Coma [HPO term]
- Decreased hemoglobin [HPO term]
- Decreased serum complement C3 [HPO term]
- Decreased serum complement factor B [HPO term]
- Decreased serum complement factor H [HPO term]
- Decreased serum complement factor I [HPO term]
- Diarrhea [HPO term]
- Dysphasia [HPO term]
- Elevated circulating creatinine concentration [HPO term]
- Fever [HPO term]
- Hemiparesis [HPO term]
- Hemolytic-uremic syndrome [HPO term]
- Hyperlipidemia [HPO term]
- Hypertension [HPO term]
- Increased blood urea nitrogen [HPO term]
- Microangiopathic hemolytic anemia [HPO term]
- Purpura [HPO term]
- Reticulocytosis [HPO term]
- Schistocytosis [HPO term]
- Seizure [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Atypical hemolytic uremic syndrome [ORDO Disease]
- Atypical hemolytic uremic syndrome with H factor anomaly [ORDO Disease]
- Atypical hemolytic uremic syndrome with anti-factor H antibodies [ORDO Disease]
- Atypical hemolytic uremic syndrome with complement gene abnormality [ORDO Disease]
- Shiga toxin-associated hemolytic uremic syndrome [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

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