ABSTRACT
Objective. To explore the role of endothelin-1 (ET-1) and leptin in intrauterine growth restriction (IUGR) among preeclamptic and non-pre-eclamptic women. Methods. Forty three patients with a pregnancy complicated by IUGR, 23 cases with severe pre-eclampsia and 20 cases of non-pre-eclamptic were enrolled. Control group comprised 15 cases with uncomplicated pregnancy. Blood samples from umbilical artery and maternal venous blood were collected at the time of delivery for analysis of ET-1 and leptin levels. Mode of delivery, birth weight and Apgar score were also recorded. Results. The mean maternal and fetal ET-1 level was significantly higher in pregnancies complicated by IUGR than in control group. The mean maternal leptin level was significantly higher in pre-eclamptic patients when compared to nonpreeclamptic and control groups. Mean fetal leptin level was significantly lower in patients compared to control; however, when fetal leptin corrected to fetal weight, it was insignificantly different in the both groups. Conclusion. Maternal plasma ET-1 and leptin correlate with the degree of fetal growth restriction originating from deterioration of placental function. Maternal plasma leptin and ET-1 levels may reflect deterioration in fetal growth.
Subject(s)
Adult , Analysis of Variance , Biomarkers/blood , Birth Weight , Case-Control Studies , Chi-Square Distribution , Endothelin-1/blood , Endothelin-1/metabolism , Enzyme-Linked Immunosorbent Assay , Female , Fetal Growth Retardation/blood , Fetal Growth Retardation/diagnostic imaging , Gestational Age , Humans , Infant, Newborn , Leptin/blood , Leptin/metabolism , Linear Models , Maternal Age , Pre-Eclampsia/blood , Pre-Eclampsia/diagnostic imaging , Predictive Value of Tests , Pregnancy , Pregnancy Outcome , Prenatal Care/standards , Prenatal Care/trends , Probability , Reference Values , Sensitivity and Specificity , Severity of Illness Index , Ultrasonography, Prenatal , Young AdultABSTRACT
OBJECTIVE: To uncover the frequency and the spectrum of NPHS2 mutations in Egyptian children with non familial steroid-resistant nephrotic syndrome (SRNS). METHODS: Sixteen patients were screened by PCR-single-strand conformation polymorphism analysis of NPHS2 gene followed by direct sequencing. RESULTS: NPHS2 mutations were evident in four patients (25%) who were bearing four novel mutations including two frame shift mutations (R238fs and P45fs) and two missense mutations (I136L and F216Y). There were no phenotypic or histological characteristics of patients bearing NPHS2 mutations, apart from the earlier onset of the disease, compared to those who were not bearing mutations. CONCLUSION: NPHS2 mutations are prevalent in Egyptian children with non-familial SRNS and this may in part explain the less favorable prognosis reported in these patients.