BACKGROUND AND OBJECTIVESMutations in several genes are known to cause steroid-resistant nephrotic syndome (SRNS), most commonly in NPHS1, NPHS2, and WT1. Our aims were to determine the frequency of mutations in these genes in children with SRNS, the response of patients with SRNS to various immunosuppressants, and the disease outcome, and to review the predictive value of genetic testing and renal biopsy result.DESIGN AND SETTINGSA retrospective review was performed of the medical records for all children with SRNS who were treated and followed-up in the Pediatric Nephrology Unit of King Abdulaziz University Hospital (KAUH), Jeddah, Saudi Arabia from 2002–2012.PATIENTS AND METHODSWe retrospectively reviewed the medical records of children above 1 year of age, who presented with SRNS to KAUH, Jeddah, Saudi Arabia, in the 10-year interval from 2002–2012 and for whom the results of genetic testing for NPHS1, NPHS2, and WT1 were available. We compared the clinical phenotype, including response to treatment and renal outcome to genotype data.RESULTSWe identified 44 children with a clinical diagnosis of SRNS in whom results of genetic testing were available. Presumably disease-causing mutations were detected in 5 children (11.4%) of which 3 (6.8%) had NPHS2 mutation and 2 (4.5%) had NPHS1 mutation. Renal biopsy revealed minimal change disease (MCD) or variants in 17 children, focal segmental glomerulosclerosis (FSGS) in 23 children, membranoproliferative changes (MPGN) in 2 children, and IgA nephropathy in another 2 children. Children with MCD on biopsy were more likely to respond to treatment than those with FSGS. None of those with an identified genetic cause showed any response to treatment.CONCLUSIONThe frequency of identified disease-causing mutations in children older than 1 year with SRNS presented to KAUH was 11.4%, and these patients showed no response to treatment. Initial testing for gene mutation in children with SRNS may obviate the need for biopsy, and the use of immunosuppressive treatment in children with disease due to NPHS1 or NPHS2 mutations. Renal biopsy was useful in predicting response in those without genetic mutations.

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We observed that Breg populations in treatment-naïve LN weresignificantly reduced compared to HC and increased significantly withimmunosuppression. Responders had a trend toward increase in Bregs over time, whereas non-responders did not.

AbstractsConclusions 88 transfers for gastroschisis were conducted over the period. 91% babies were kept within region and transferred within an average time of 80 min in keeping with the network guideline. There have been no patient related clinical incidents. Purpose Antenatally detected urinary tract abnormalities (ADUTA) are increasingly recognized. Our aims were to determine the incidence and outcomes of antenatally diagnosed congenital hydronephrosis in a large cohort. Methods We reviewed the records of 18,853 deliveries between January 2008 and December 2011 at King Abdulaziz University Hospital, Saudi Arabia. ADUTA were recorded and their postnatal medical records were reviewed for demographic and radiological data. Results ADUTA were diagnosed in 327 fetuses (1.7%). The commonest pathology was congenital hydronephrosis (n=313, 95.7%). Cystic renal anomalies were reported in four babies (1.2%) and 10 children (3.1%) were reported to have other renal anomalies, including duplex kidneys or a single kidney. Two-hundred and forty babies with congenital hydronephrosis were followed-up. Hydronephrosis resolved in 99 children (41.2%) within 2 months of birth. Twentynine subjects had underlying renal anomalies (12.1%), including vesico-uretral reflux (n=12, 5%), pelvi-uretric junction obstruction (n=14, 5.8%) and posterior urethral valve (n=3, 1.25%). The best predictor for non-resolving congenital hydronephrosis and underlying anatomical abnormalities was the AP diameter on the first postnatal scan. A cut-off point of 5 mm was found to be 83% sensitive in predicting non-resolving hydronephrosis, while 7 mm was 88% sensitive and 10 mm was 94% sensitive. Conclusion Congenital hydronephrosis is the commonest ADUTA. A large percentage resolved within 2 months of birth, but underlying anatomical abnormalities were found in 12.1%. All babies with antenatally detected hydronephrosis should be examined by US postnatally but further radiological investigations should only be performed for persistent significant AP dilatation ≥10 mm. MAJOR BIRTH DEFECTS AMONG BABY, S BORNS IN QATAR