Sleep disorders in children and adolescents on regular hemodialysis.

Sleep disorders in children with chronic kidney disease have been assessed in a limited number of studies. Our aim was to characterize the types of sleep disorders in children on regular hemodialysis and to detect the predictors of sleep efficiency in those children. Forty children and adolescents on regular hemodialysis and another 40 age- and gender-matched control groups were interviewed to answer a questionnaire-based survey, a modified Epworth Sleepiness Scale, to assess excess daytime sleepiness. Also, they underwent an overnight in-laboratory polysomnography to assess total sleep time, sleep efficiency, sleep staging, apnea/hypopnea index, and periodic limb movement index. We found poor sleep efficiency in 20% of cases, and periodic limb movement index higher than 5 in 45%, and apnea/hypopnea index higher than 5 in 40%. There was significant negative correlation between sleep efficiency on one hand, and serum potassium, serum creatinine, and sleep onset on other hand (p < 0.001, p < 0.001, and p < 0.001, respectively). There was significant decrease in hemoglobin, serum iron, and transferrin saturation in patients with excess daytime sleepiness (p < 0.001, p = 0.003, and p = 0.010, respectively). By using multivariate linear regression analysis, we found that serum creatinine was the single independent predictor of sleep efficiency.Conclusion: Poor sleep quality is not uncommon in hemodialysis children. Our results show a lower frequency of sleep disorders in comparison with previous studies. There is a strong association between kidney dysfunction and poor sleep quality in HD children.What is known:• Sleep disturbances can adversely affect a child's daytime performance.• Sleep disorders in children with chronic kidney disease have been assessed in only a limited number of studies.What is new:• Poor sleep quality is not uncommon in hemodialysis children.• There is a strong association between kidney dysfunction and poor sleep quality in hemodialysis children.

Nutritional rehabilitation for children with cystic fibrosis: Single center study.

BACKGROUND: Cystic fibrosis (CF) is an inherited disorder that causes severe damage to multiple organs in the body. Nutritional management has a dramatic effect on growth and survival in CF patients. This study aimed to assess the nutritional status of Egyptian pediatric patients with CF before and after proper nutritional counseling and supplementation. METHODS: This is an interventional observational study conducted on fifty children with CF recruited from CF clinic, Children's Hospital, Cairo University. The patients were subjected to history taking, clinical examination, full nutritional assessment, including signs of vitamins deficiencies, Subjective global assessment (SGA), anthropometric measurements, laboratory assessment (complete blood count, kidney, liver function tests and Prealbumin as a nutritional marker). After the initial assessment all the patients were subjected to a proper nutritional plan plus vitamin and mineral supplementations then reassessed them after 3 months. RESULTS: SGA showed that 60% of the patients had severe malnutrition, 62%, 78%, and 48% of the patients were below -2 Z score for height, weight, and BMI respectively which decreased to 45%, 40%, and 32% after nutritional supplementation. 43% of the patients were anemic, 29% were hypoalbuminemic, and 80% had low serum Prealbumin levels. After 3 months of follow up, only 17% had anemia, 11% had hypoalbuminemia, and 41% had low serum Prealbumin. Compliance was detected in 76% of caregivers during the follow up. CONCLUSION: CF patients had considerable impairment in their nutritional status. Proper caloric intake and vitamin supplementation had a valuable impact on their growth and prognosis.

Mutation spectrum of Egyptian children with cystic fibrosis.

OBJECTIVE: To know the common CFTR mutations in the Egyptian patients with cystic fibrosis as it was previously thought to be uncommon disease in Egypt. METHODS: This is a cross sectional study of 60 patients diagnosed as cystic fibrosis by sweat chloride testing. They were enrolled from the Allergy and Pulmonology Unit Children's Hospital Cairo University. They were screened for the presence of the frequent 36 mutations in Caucasians by reverse hybridization line probe technique, using INNO-LiPACFTR19 and CFTR17 + Tn kits. RESULTS: Most of patients presented with classic manifestations of CF such as variable pulmonary disease and pancreatic insufficiency, and hepatomegaly with or without ascites. The mutations detected were F508 del (58 %), 2183AA/G (10 %), N1303K (6 %), I148T (4 %), W1282X (4 %), G155D (2 %), CFTRdel2-3 (21 KB) (2 %), 3199del6 (2 %), R347P (2 %). Unique to the Egyptian population are these mutations R1162X and A544E (6, 4 %) respectively they were found in our cohort study and were not reported elsewhere in the Arab population till now. There was no association between the initial clinical presentation of CF and the genotypes detected. CONCLUSION: The F508 del is still the most commonly encountered mutation (58 %), however other rare mutations were identified where each ranged from (2 to 10 %).

Profile of cystic fibrosis in a single referral center in Egypt.

It was generally believed that Cystic fibrosis (CF) is rare among Arabs; however, the few studies available from Egypt and other Arabic countries suggested the presence of many undiagnosed patients. The aim of the present study was to determine the frequency of CF patients out of the referred cases in a single referral hospital in Egypt. A total of 100 patients clinically suspected of having CF were recruited from the CF clinic of the Allergy and Pulmonology Unit, Children's Hospital, Cairo University, Egypt, throughout a 2 year period. Sweat chloride testing was done for all patients using the Wescor macroduct system for collection of sweat. Quantitative analysis for chloride was then done by the thiocyanate colorimetric method. Patients positive for sweat chloride (⩾60 mmol/L) were tested for the ΔF508 mutation using primer specific PCR for cystic fibrosis transmembrane conductance regulator (CFTR) gene. Thirty-six patients (36%) had a positive sweat chloride test. The main clinical presentations in patients were chronic cough in 32 (88.9%), failure to thrive in 27 (75%), steatorrhea in 24 (66.7%), and hepatobiliary involvement in 5 (13.9%). Positive consanguinity was reported in 50% of CF patients. Thirty-two patients were screened for ΔF508 mutation. Positive ΔF508 mutation was detected in 22 (68.8%) patients, 8 (25%) were homozygous, 14 (43.8%) were heterozygous, and 10 (31.3%) tested were negative. CF was diagnosed in more than third of patients suspected of having the disease on clinical grounds. This high frequency of CF among referred patients indicates that a high index of suspicion and an increasing availability of diagnostic tests lead to the identification of a higher number of affected individuals.