Neonatal jaundice: magnitude of the problem in Cairo University's neonatal intensive Care unit as a referral center.

Background: Neonatal jaundice is one of the most common physiologic problems requiring medical attention in newborns. It is benign in most cases; however, high levels of bilirubin are neurotoxic and can lead to serious brain damage. Objectives: This study aimed at assessment of magnitude of neonatal jaundice in cases of neonatal hyperbilirubinemia admitted into neonatal intensive care unit (NICU), Cairo University Pediatric Hospital and to detect possible etiologies, management and outcome. Methods: The present work is a retrospective study, included 789 neonates suffered from hyperbilirubinemia over a two-year period. Results: Intensive phototherapy and exchange transfusion were used together in 6 cases. Two hundreds and twenty-two cases (28.1%) had exchange transfusion once, 44 cases had it twice, 6 cases had it 3 times and one case had it 4 times. Number of exchange transfusion significantly affects mortality among cases (P= 0.02). Conclusion: Neonatal hyperbilirubinemia is an existing problem in our NICU. Intensive phototherapy is an excellent substitute for exchange transfusion. Respiratory distress and sepsis are significantly higher among dead cases. Screening for risk factors is needed to avoid critical hyperbilirubenemia.

Genetic mutation in Egyptian children with steroid-resistant nephrotic syndrome.

BACKGROUND/PURPOSE: Nephrotic syndrome is the commonest etiology of proteinuria in children. Steroid-resistant nephrotic syndrome (SRNS) is defined by resistance to standard steroid therapy, and it continues to be one of the most intractable etiologies of renal failure. Molecular studies discovered specialized molecules in podocytes that play a role in proteinuria. Mutations in NPHS2 that encodes for podocin constitute a frequent cause of SRNS worldwide. This study aimed to screen for podocin mutations in SRNS Egyptian children and their parents. METHODS: Our study included patients from 10 unrelated Egyptian families diagnosed with SRNS. Mutational analysis of the NPHS2 gene was performed by polymerase chain reaction amplification of the whole coding region of the gene and direct sequencing. RESULTS: Positive consanguinity was detected in five cases, and four of them had a positive family history of SRNS in a family member. Mutational analysis of NPHS2 revealed pathogenic mutations in four cases (40%) including a novel missense in one patient (c.1A>T; p.M1L). CONCLUSION: Our study concludes that mutations of NPHS2 gene are common among Egyptian children with SRNS. We support a model where ethnicity plays an important role in specific NPHS2 mutations, since a novel mutation was found in one patient in this study. Future study on a large number of Egyptian patients with SRNS is warranted to identify the actual genetic contribution of this gene in the development of SRNS in our population, which might help in patients' prognosis and management.

Behavioral changes in Egyptian children with nephrotic syndrome.

INTRODUCTION: Chronic illnesses, including nephrotic syndrome (NS), are associated with psychosocial stress. Our study aimed to assess psychological problems in children with NS. MATERIALS AND METHODS: Sixty children with NS were assessed at the Children Hospital, in Cairo for behavioral changes. They responded to the Arabic version of the Strength and Difficulties Questionnaire. The results were compared between those with steroid-sensitive NS (SSNS), steroid-dependent NS (SDNS), and steroid-resistant NS (SRNS). RESULTS: Three groups of patients with SSNS, SDNS, and SRNS, each consisting of 20 children aged between 4 and 16 years, were included. The SRNS group was significantly different from the other two groups regarding age at the onset of disease, total serum protein, serum albumin, serum calcium, and estimated glomerular filtration rate (lowest in the SRNS group) as well as 24-hour urine protein, blood urea nitrogen, and serum total cholesterol (highest in the SRNS group). In the SRNS group, the scores for emotional symptoms, peer relationship problems, and the total score were higher and the prosocial score was lower than the other groups, but with no statistical significance. CONCLUSIONS: Emotional symptoms, conduct problems, peer relationship problems, hyperactivity, and the overall poor behavior scores might be more likely to be seen in children with SRNS group than other NS treatment status. We recommend that attention to behavioral problems of children with NS should be given early in the course of disease.