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

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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.

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Authors and Affiliations

  1. Department of Pediatrics, Health Science University, Prof. Dr. Cemil Taşçioğlu City Hospital, Istanbul, Turkey

    Nazlı Umman

  2. Department of Pediatric Intensive Care Unit, Health Science University, Prof. Dr. Cemil Taşçioğlu City Hospital, Istanbul, Turkey

    Mey Talip Petmezci

  3. School of Medicine, Department of Pediatric Gastroenterology, Koç University, Istanbul, Turkey

    Çiğdem Arikan

  4. Department of Pediatric Gastroenterology, Health Science University, Prof. Dr. Cemil Taşçioğlu City Hospital, Istanbul, Turkey

    Cansu Altuntaş

  5. Department of Medical Genetics, Health Science University, Prof. Dr. Cemil Taşçioğlu City Hospital, Istanbul, Turkey

    Biray Ertürk

  6. Department of Pediatric Nephrology, Health Science University, Prof. Dr. Cemil Taşçioğlu City Hospital, Darülaceze Cad. No: 27, Sisli, 34384, Turkey

    Hasan Dursun

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  1. Nazlı Umman
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  2. Mey Talip Petmezci
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  4. Cansu Altuntaş
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Corresponding author

Correspondence to Hasan Dursun.

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Ethics approval

The study was conducted in accordance with the Helsinki Declaration and ratified by the local ethics committee of Prof. Dr. Cemil Taşçıoğlu City Hospital, Istanbul, Turkey (No:17/01/2022–438).

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Written informed consent on behalf of the enrolled children was obtained from their parents.

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Umman, N., Talip Petmezci, M., Arikan, Ç. et al. SERPINB11 variant-related liver injury in STEC-HUS: case reports and literature review. Pediatr Nephrol 37, 3243–3247 (2022). https://doi.org/10.1007/s00467-022-05602-5

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