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Review
. 2022 Dec;37(12):3243-3247.
doi: 10.1007/s00467-022-05602-5. Epub 2022 May 12.

SERPINB11 variant-related liver injury in STEC-HUS: case reports and literature review

Nazlı Umman  1 , Mey Talip Petmezci  2 , Çiğdem Arikan  3 , Cansu Altuntaş  4 , Biray Ertürk  5 , Hasan Dursun  6
Affiliations
Review

SERPINB11 variant-related liver injury in STEC-HUS: case reports and literature review

Nazlı Umman et al. Pediatr Nephrol. 2022 Dec.

Abstract

Background: Liver damage is uncommon in Shiga toxin-producing Escherichia coli-associated hemolytic uremic syndrome (STEC-HUS). Herein, we present two cases with a diagnosis of STEC-HUS that progressed to liver damage, with findings presumably related to the SERPINB11 gene c.268G > T (p.Glu90Ter) variant.

Case-diagnosis/treatment: Two boys aged 3 and 2 years, respectively, were referred to our clinic with a preliminary diagnosis of STEC-HUS. The patients had low hemoglobin, thrombocyte, and haptoglobin levels but high levels of lactic dehydrogenase, urea, creatinine, and schistocytes in peripheral smears. Escherichia coli O157:H7 was detected in their stool samples. The patients underwent hemodialysis, plasma exchange, and supportive treatments. Meanwhile, cholestasis developed in the patients, resulting in elevated total bilirubin levels. During the follow-up period, kidney function recovered completely; however, liver function did not improve, and one patient developed chronic liver damage. Gene mutations that may cause liver damage were investigated, and c.268G > T (p.Glu90Ter) homozygous and heterozygous variants were detected in exon 9 of the SERPINB11 gene in the patients.

Conclusions: Our patients presented with kidney impairment and liver malfunction. Hepatic involvement in STEC-HUS may result from ischemia, hemolysis, and endothelial damage in the hepatic vessels. Liver injury in STEC-HUS cases may be associated with the homozygous SERPINB11 gene c.268G > T (p.Glu90Ter) variant.

Keywords: Cholestasis; Liver damage; SERPINB11 gene variant; STEC-HUS.

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