Glucose-6-phosphate dehydrogenase deficiency as a cause of neonatal jaundice in Zagazig university hospital

Jaundice is a common problem affecting 50% to 70% of term infants and more than 80% of preterms, its mechanism is multifactorial; increased production, impaired conjugation and impaired excretion of bilirubin. Glucose-6-phosphate dehydrogenase [G-6-PD] deficiency the most common red cell enzyme abnormality associated with hemolysis. It is also known to be associated with neonatal jaundice, kernicterus, and even death. Identify neonates suffering pathological unconjugated hyperbilirubinemia particularly due to G-6-PD deficiency in Zagazig University Hospital. Two hundred clinically jaundiced neonates were enrolled in this study. Their mean gestational age was 36.65 +/- 1.76 weeks, mean birth weight was 2.9 +/- 0.49 kg, mean age at time of admission was 6.5 +/- 3.72 days, 121 were males and 79 were females [representing 60.5% and 39.5% respectively]. In addition 60 age and sex matched healthy neonates served as a control group. AII neonates were subjected to history taking, clinical examination, and measurement of total and direct serum bilirubin. Upon plotting total serum bilirubin [TSB] on bilirubin nomogram 123 neonates were identified as having pathological hyperbilirubinemia and the remaining 77 neonates were excluded from the study in addition, 22 neonates were identified as having direct [conjugated] hyperbilirubinemia and were also excluded from the study. The remaining 101 [50.5%] neonates [61 males and 40 females] were diagnosed as having pathological unconjugated hyperbilirubinemia and were subjected to laboratory investigations in the form of; CBC, peripheral blood smear, reticulocytic count, direct Coombs' test, ABO and Rh blood grouping for mothers and neonates, liver function test, urine analysis, sepsis screen [C-reactive protein, total and differential leucocytic count and band cell count], serum TSH and T4, and G-6-PD enzyme assay. Results: Out of 101 neonates wfth pathological unconjugated hyperbilirubinemia G-6-PD deficiency was detected in 13 [12.9%] neonates, 10 of them were males and 3 were females [representing 76.9% and 23.1% respectively]. G-6-PD deficiency is an important cause of neonatal jaundice in both males and females

Common MEFV mutations in Egyptian patients with familial Mediterranean fever

Familial Mediterranean fever [FMF] which is an autosomal recessive condition that primarily affect population of the Mediterranean basin. If undiagnosed effectively and treated with coichicine for life it may lead to serious consequences in terms of renal amyloidosis and renal failure. We aim to check for the presence of FMF mutations in clinically suspected Egyptian patients, as an important step for family counseling and case management. The study is a pilot study to check for the presence of FMF mutations among suspected cases [24 cases] from Sharkia Govemorate. The control subjects [24] were selected from healthy volunteers. We examined FMF mutations by PCR technique for MEFV gene analysis in order to establish a diagnosis of FMF by examining two mutations, M694V and E148Q. We found 58.3%[14/24 cases] of cohort were positive for M694V mutation, and all cohort were negative for E148Q mutation. The normal controls were negative for previous two mutations. PCR technique provides a rapid, reliable, cost-effective, noninvasive, and sensitive test for establishing a diagnosis of FMF in symptomatic patients and also provides a rational basis for medical and genetic counseling of FMF patients and their families