Hemolytic Uremic Syndrome Precision Panel – 17 genes

Overview

• Hemolytic Uremic Syndrome (HUS) is defined by the presence of microangiopathic hemolytic anemia, thrombocytopenia and acute kidney injury. It is one of the main causes of acute kidney injury in children. It is a clinically heterogeneous condition given the different etiologies of HUS that result in differences in presentation, management and outcome. It has been classified into typical HUS resulting from Shiga toxin-producing E.coli infections (STEC) and atypical HUS or non-STEC. HUS can be hereditary due to inborn errors of cobalamin C metabolism, complement gene mutations or acquired by infections, autoantibodies or drug toxicity. It is estimated that approximately 50 percent of non-Shiga-toxin-producing E.coli cases result from mutations in these genes. There is a seasonal pattern of HUS, peaking in the summer and fall. The mode of inheritance follows an autosomal dominant or autosomal recessive pattern.  

• The Igenomix Hemolytic Uremic Syndrome Precision Panel can be used to make a directed and accurate diagnosis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

• The Igenomix Hemolytic Uremic Syndrome Precision Panel is indicated for those patients with a clinical suspicion or diagnosis presenting with or without the following manifestations: 
  • Gastroenteritis: fever, bloody diarrhea 
  • Irritability 
  • Lethargy 
  • Seizures 
  • Acute renal failure 
  • Anuria 
  • Hypertension 
  • Edema 
  • Pallor 

Clinical Utility

The clinical utility of this panel is: 

• The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.  
• Early initiation of treatment with a multidisciplinary team in the form of plasma exchange therapy, red blood cell transfusions, appropriate fluid and electrolyte management, provision of adequate nutrition.  
• Risk assessment of asymptomatic family members according to the mode of inheritance. 
• Improvement of delineation of genotype-phenotype correlation. 

Genes & Diseases

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance 

** HGMD: Number of clinically relevant mutations according to HGMD