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

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.

Blood pressure and heart rate monitoring in children and adolescent with Still's vibratory murmur.

BACKGROUND: Innocent heart murmur is common in healthy infants, children and adolescents. Although most cases are not pathologic, a murmur may be the manifestation of cardiovascular disease. It may also cause or be an indicator of blood pressure (BP) and heart rate (HR) changes. OBJECTIVE: This study aimed to document changes in BP and HR in children with Still's vibratory murmur (SVM). METHODS: This study included 226 children with SVM, and the control group included 138 healthy children that were age-, height- and weight-balanced. Patient files and our hospital registry system were retrospectively investigated for laboratory findings and electrocardiography and echocardiography results. In addition, we prospectively performed 24-h ambulatory BP monitoring in both groups. RESULTS: There were no statistically significant differences in 24-h, daytime and nighttime systolic BP, 24-h and nighttime diastolic BP and nighttime HR between the patient and control groups (P = ns). However, daytime diastolic BP, mean HR and daytime HR were significantly higher in patient group (P = 0.009, 0.039 and 0007, respectively). CONCLUSIONS: We believe that in the presence of a higher HR and a higher aortic diastolic BP, which may induce hemodynamic changes in the left ventricle, flow turbulence through the aortic valve may increase, increasing the probability of hearing a murmur. ambulatory BP monitoring could be useful to obtain a better picture of these parameters during the 24-h period.