Nazlı Umman1, Mey Talip Petmezci2, Çiğdem Arikan3, Cansu Altuntaş4, Biray Ertürk5, Hasan Dursun6. 1. Department of Pediatrics, Health Science University, Prof. Dr. Cemil Taşçioğlu City Hospital, Istanbul, Turkey. 2. Department of Pediatric Intensive Care Unit, Health Science University, Prof. Dr. Cemil Taşçioğlu City Hospital, Istanbul, Turkey. 3. School of Medicine, Department of Pediatric Gastroenterology, Koç University, Istanbul, Turkey. 4. Department of Pediatric Gastroenterology, Health Science University, Prof. Dr. Cemil Taşçioğlu City Hospital, Istanbul, Turkey. 5. Department of Medical Genetics, Health Science University, Prof. Dr. Cemil Taşçioğlu City Hospital, Istanbul, Turkey. 6. Department of Pediatric Nephrology, Health Science University, Prof. Dr. Cemil Taşçioğlu City Hospital, Darülaceze Cad. No: 27, Sisli, 34384, Turkey. dursunhs@yahoo.com.
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.
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.
Authors: N Urushihara; N Ariki; T Oyama; Y Chouda; T Yagi; T Inoue; Y Tomiyama; R Nishiuchi; M Oda; N Tanaka Journal: J Pediatr Surg Date: 2001-12 Impact factor: 2.545
Authors: David J Askew; Sule Cataltepe; Vasantha Kumar; Christopher Edwards; Serena M Pace; Rica N Howarth; Stephen C Pak; Yuko S Askew; Dieter Brömme; Cliff J Luke; James C Whisstock; Gary A Silverman Journal: J Biol Chem Date: 2007-06-11 Impact factor: 5.157
Authors: G A Silverman; J C Whisstock; D J Askew; S C Pak; C J Luke; S Cataltepe; J A Irving; P I Bird Journal: Cell Mol Life Sci Date: 2004-02 Impact factor: 9.261
Authors: J Matthies; C Hünseler; R Ehren; R Volland; F Körber; B Hoppe; L T Weber; S Habbig Journal: Klin Padiatr Date: 2016-06-13 Impact factor: 1.349
Authors: Elisa Ylinen; Saara Salmenlinna; Jani Halkilahti; Timo Jahnukainen; Linda Korhonen; Tiia Virkkala; Ruska Rimhanen-Finne; Matti Nuutinen; Janne Kataja; Pekka Arikoski; Laura Linkosalo; Xiangning Bai; Andreas Matussek; Hannu Jalanko; Harri Saxén Journal: Pediatr Nephrol Date: 2020-04-22 Impact factor: 3.714