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Abstract: FR-PO653

Shiga Toxin-Producing Escherichia coli (STEC) Infection in a Pediatric Patient with Compound Heterozygous Deletion of CFHR1-3 and CFHR1-4

Session Information

  • Pediatric Nephrology - II
    November 03, 2023 | Location: Exhibit Hall, Pennsylvania Convention Center
    Abstract Time: 10:00 AM - 12:00 PM

Category: Pediatric Nephrology

  • 1900 Pediatric Nephrology


  • Mortari, Gabriele, Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia, Brescia, Lombardia, Italy
  • La Porta, Edoardo, Istituto Giannina Gaslini, Genova, Liguria, Italy
  • Bigatti, Carolina, Istituto Giannina Gaslini, Genova, Liguria, Italy
  • Proietti Gaffi, Giulia, Istituto Giannina Gaslini, Genova, Liguria, Italy
  • Verrina, Enrico E., Istituto Giannina Gaslini, Genova, Liguria, Italy
  • Caridi, Gianluca, Istituto Giannina Gaslini, Genova, Liguria, Italy
  • Angeletti, Andrea, Istituto Giannina Gaslini, Genova, Liguria, Italy
  • Ghiggeri, Gian Marco, Istituto Giannina Gaslini, Genova, Liguria, Italy
  • Lugani, Francesca, Istituto Giannina Gaslini, Genova, Liguria, Italy

Hemolytic uremic syndrome (HUS) is classified into typical and atypical (aHUS). Typical HUS is secondary to a Shiga-toxin infection as E. Coli (STEC-HUS), whereas aHUS is secondary to complement gene mutation and/or complement factor H (CFH) antibodies. aHUS is diagnosed once ADAMTS13 deficiency and STEC infection have been ruled out. aHUS can be triggered by different conditions also STEC infection. We present a pediatric case firstly diagnosed as STEC-HUS afterward diagnosed as aHUS following a sudden relapse of the thrombotic microangiopathy (TMA) who favorable response to Eculizumab.

Case Description

A 9 years old child developed TMA, acute kidney injury (AKI) and posterior reversible encephalopathy syndrome (PRES). Eculizumab was administered leading to clinical improvement. The patient was initially diagnosed with STEC-HUS based on positive fecal test for STEC O157. After 4 weeks, a severe relapse of TMA occured. Thus, Eculizumab treatment was restarted. Genetic analysis revealed compound heterozygous deletion of CFHR3-CFHR1 and CFHR1-CFHR4, along with high serum titer anti-CFH antibodies (222 U/mL). aHUS diagnosis was made and Eculizumab was continued.


STEC infection does not ruled out aHUS diagnosis and early use of Eculizumab might be reasonable in severe HUS cases. Investigations for autoantibodies and genetic factors should be pursued to identify aHUS-related factors and enhance patient outcomes.

Biochemical analysis
Platelets (n°/uL)48000293000
Hemoglobine (g/dL) 7.4 12.6
Aptoglobine (mg/dL) 2 100
Lactate dehydrogenase (U/L) 1585 244
Creatinine (mg/dL) 9.86 0.96
Bood urea nytrogen (mg/dL) 355 73
C3 (mg/dL) 59 106
C4 (mg/dL) 2641
CH50 (%) - 2