Metabolic screening and its impact in children with nonsyndromic intellectual disability.

OBJECTIVE: The objective of this study was to analyze the value of routine metabolic screening tests in children with an intellectual disability (ID) and its impact on improving their outcome and quality of life through appropriate intervention and treatment. PATIENTS AND METHODS: This cross-sectional study was conducted in the Pediatric Neurology Clinic, Al Khafji Joint Operations Hospital, Kingdom of Saudi Arabia. A total of 150 children with nonsyndromic ID (66% males) in the age range of 5-17 years were compared with 50 apparently healthy age- and sex-matched controls. All studied groups were subjected to detailed history taking, family pedigree, thorough clinical examination, anthropometric measurements, routine laboratory investigations and urine metabolic screening tests (ferric chloride test and toluidine blue spot test and gas chromatography-mass spectrometry). Electroencephalography, IQ, psychiatric assessment and chromosomal study were done for the patient group only. RESULTS: Positive consanguineous marriage, older maternal or paternal age and family history of mental disabilities in other siblings were considered as risk factors for the development of mental disabilities. History of admission to neonatal intensive care unit was significantly higher among the patient group than among the controls (P<0.05). Metabolic screening tests showed that up to 35% of patients were positive for ferric chloride test, 9% of patients were positive for gas chromatography-mass spectrometry, and only 7 out of 150 (4.7%) patients were toluidine blue test positive. CONCLUSION: Metabolic testing should be considered in the workup of individuals with nonsyndromic ID, which will need further specific investigations to confirm the diagnosis and determine the possible treatable cases.

The role of serum apelin in retinopathy of prematurity.

OBJECTIVE: To evaluate the role of serum apelin as a diagnostic tool in retinopathy of prematurity (ROP) disease. PATIENTS AND METHODS: Thirty-eight preterm infants (60% male) with gestational age ranging from 30 to 36 weeks admitted to the neonatal intensive care unit, KJO Hospital, Saudi Arabia with proven diagnosis of ROP were included in the study. In addition, 27 preterm infants without ROP served as controls. All newborn infants in the study were subjected to adequate history taking, full clinical examination, and fundus examination by indirect ophthalmoscope (at 4-6 weeks) as well as determination of serum apelin at birth and at 4-6 weeks of age. RESULTS: The study revealed that oxygen therapy longer than 7 days' duration, cesarean section (as a mode of delivery), sepsis, mechanical ventilation, blood transfusion, premature rupture of membranes, pneumothorax, perinatal asphyxia, cardiac problems, and neonatal jaundice were considered as risk factors related to development of ROP. Serum apelin levels were significantly lower in patients than controls (P<0.001) at time of diagnosis of the disease (4-6 weeks) while no significant differences were observed in levels at birth. CONCLUSION: Serum apelin was found to be of significant diagnostic value in the occurrence of ROP.

Renal tubular dysfunction in children with sickle cell haemoglobinopathy.

AIM: Children with sickle cell disease (SCD) are remarkably more prone than others to renal dysfunction. The kidneys, as one of the systemic long-term hazards in SCD, may be affected by both the haemodynamic changes of chronic anaemia as well as by the consequences of vaso-occlusion. The aim of this study was to evaluate the proximal tubular function in a group of Saudi children with established SCD. METHODS: This study was conducted in Al-Khafji Joint Operations (KJO) Hospital, in Saudi Arabia during the period from June 2011 to August 2012. Thirty-four children: Group I (18 males and 16 females) with SCD (HBSS) and 27 children: Group II (17 males and 10 females) with sickle cell trait (HBAS) were evaluated for urinary excretion of retinol binding protein (RBP) and - Beta 2 microglobulin (ß2 MG). RESULTS: Group I patients showed a significantly impaired urinary concentrating ability compared to that of Group II (417 ± 94 mOsm/kg vs 581 ± 165 mOsm/kg). The urinary excretions of RBP and ß2-microglobulin were significantly higher in Group I than in Group II. The values were 762.01 ± 124.20 µg/L and 841.84 ± 389.02 µg/L versus 198.12 ± 42.24 µg/L and 298.3 ± 38.11 µg/L, respectively. CONCLUSION: Significant proximal tubular dysfunction was a feature in the SCD group, indicated by high urinary RBP and ß2-microglobulin excretion. Assessing the urinary excretion of these low molecular weight proteins in children with sickle cell disease at different points of diagnosis may add key clinical information to the follow up of renal tubular function in patients with SCD.

Vitamin D insufficiency and deficiency in children with chronic kidney disease.

BACKGROUND AND OBJECTIVES: Hypovitaminosis D is a frequent condition in normal populations. Children with chronic kidney disease (CKD) present a high risk of developing complications due to hypovitaminosis D. Our aim was to determine the frequency of vitamin D insufficiency/deficiency in children with different stages of CKD who were followed up at King Abdulaziz University Hospital (KAUH), Jeddah, Saudi Arabia. DESIGN AND SETTING: University hospital-based case-control study of children followed up between March 2010 and March 2011. PATIENTS AND METHODS: Blood was extracted from children with CKD to measure urea, creatinine, hemoglobin, calcium, phosphorus, alkaline phosphatase, intact parathyroid hormone (iPTH), and vitamin D3 levels. We calculated correlations between iPTH and vitamin D levels, and associations between vitamin D levels and CKD stages. RESULTS: The frequency of vitamin D insufficiency/deficiency was high among the cases and controls. Children with CKD had significantly lower levels of vitamin D than their peers with normal kidney function (P=.05) with a mean (SD) level of 17.5 (9.9) ng/mL versus 21.0 (13.4) ng/mL for the control group. Among the children with CKD, 36 (45.0%) had vitamin D insufficiency, 24 (30.0%) had vitamin D deficiency, and 10 (12.5%) had severe deficiency. There was a positive correlation between vitamin D3 level and CKD stages (Kendall tau=0.22, P=.003). A significant association existed between glomerular filtration rate and vitamin D3 deficiency (P=.002). There was a significant negative correlation between iPTH and vitamin D3 concentrations (Spearman correlation coefficient= -0.27, P=.01). A significant association existed between age and vitamin D3 level (P < .0001). CONCLUSION: Vitamin D insufficiency/deficiency is more frequent in children with CKD than in those with normal kidney function.

Rituximab for refractory cases of childhood nephrotic syndrome.

Rituximab has been used over the last decade as a rescue therapy for refractory cases of nephrotic syndrome (NS). Here we report the use of rituximab in four children with idiopathic steroid-resistant nephrotic syndrome (SRNS) with various histological backgrounds (two cases with focal segmental glomerulosclerosis, one case with IgM nephropathy, and one case with minimal change disease), who failed to respond to other immunsuppressions. Their median age (range) was 10 (8-11) years. NPHS2 genetic mutation was negative in all of them. All patients received a single dose of rituximab (375 mg/m(2)) and achieved complete B cell depletion as CD19 was <1% for 3 months following rituximab infusion. Only one patient achieved non-sustained remission as he relapsed after 4 months despite zero CD19 level. Patients received no further doses of rituximab as B cell was depleted in the peripheral circulation. We conclude that a single dose of rituximab was not effective in inducing sustained remission in children with idiopathic SRNS, despite complete B cell depletion in the peripheral circulation. Further doses might be indicated to deplete non-circulating B cells.