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Genetics of congenital and infantile nephrotic syndrome

World Journal of Pediatrics 2019年第2期15卷 198-203页

作者： sara nawfal sharief Nada Abdullatif Hefni Walaa Ali Alzahrani Iman Ibrahim Nazer Marwa Abdullah Bayazeed Khalid A.Alhasan Osama Y.Safdar Sherif M.El-Desoky Jameela Abdulaziz Kari King Abdulaziz University JeddahKingdom of Saudi Arabia College of Medicine Pediatric DepartmentKing Saud UniversityRiyadhKingdom of Saudi Arabia Department of Pediatrics Faculty of MedicinePediatric Nephrology Center of ExcellenceKing Abdulaziz UniversityPO Box 80215Jeddah 21589Kingdom of Saudi Arabia

Background Congenital and infantile nephrotic syndrome (CNS and INS) are rare inherited defects in glomerular filtration involving a variety of gene *** study aimed to analyze all genetic mutations associated with congenital and infantile nephrotic syndrome treated at our *** also discussed our different approach secondary to culture and *** A retrospective single-center study of all children diagnosed as NS before the age of l year over a duration of over one *** Twenty-nine children (12 boys) were included in the *** median age (range) was 2.4 (0.1-12) months (20 CNS and 9 INS).Consanguinity was present in 90% of *** genetic analysis' results were only available for 20 *** underlying causative homozygous mutation was detected in 18 children (90%):NPHS1 (9),NPHS2(2),LAMB2(3),PLCE1(1),WT1(1),and ITSN1 novel mutation (2).One child had heterozygous mutation of NPHS2 and another child had heterozygous mutation of NPHS1 which could not explain the *** CNS cases were all managed with intermittent intravenous albumin infusion,ACEi,diuretics,and *** of the children were managed by nephrectomy followed by peritoneal dialysis (PD) because of limited *** one child achieved partial remission,while 15 children died at a median (range) age of 5.8 (1.25-29) *** remaining 14 children were followed up for an average of 36 (3.9-120) *** children progressed to end-stage kidney disease and PD was performed in only two *** NPHS1 is the main underlying cause of CNS and INS in our study *** and INS were associated with high morbidity and mortality.

关键词： Congenital nephrotic Infantile nephrotic Genetics Outcome

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Urinary neutrophil gelatinase-associated lipocalin(NGAL)and serum cystatin C measurements for early diagnosis of acute kidney injury in children admitted to PICU

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World Journal of Pediatrics 2018年第2期14卷 134-142页

作者： Jameela Abdulaziz Kari Mohamed Ahmed Shalaby Kholoud Sofyani Ahmad Saleh Sanad Albaraa Fuad Ossra Rayan Smeer Halabi Maha Hassan Aljuhani Wael Mohammad Toffaha Feras Aymen Moria Samar Sabry Hanan AbdelAziz Ahmed Khalid Abdulaziz Alhasan sara sharief Osama Safdar Pediatric Nephrology Center of Excellence and Department of Pediatrics King Abdulaziz University80215Jeddah 21589Kingdom of Saudi Arabia Pediatric Intensive Care Unit Department of PediatricsKing Abdulaziz UniversityJeddahKingdom of Saudi Arabia Pediatric Department Cairo UniversityGizaEgypt Department of Pediatrics College of MedicineKing Khalid University HospitalKing Saud UniversityRiyadhKingdom of Saudi Arabia

Background Acute kidney injury(AKI)is common in critically ill children with significant mortality and *** creatinine is an insensitive and late biomarker compared to newly proposed AKI *** Prospective study in pediatric intensive care unit(PICU)over three months to compare between serum cystatin-C(s-Cys-C)and urinary neutrophil gelatinase-associated lipocalin(uNGAL)as AKI biomarkers at multiple time points with pediatric risk,injury,failure,loss,end-stage renal disease(pRIFLE)classification in diagnosing *** Forty children were *** these 40 children,22 developed AKI according to pRIFLE *** was no significant difference between AKI and non-AKI in age(P=0.29).Post cardiac surgery,renal insult was the main cause of AKI(27.3%).There was a twofold increased risk of incident AKI in those patients with high baseline uNGAL at PICU admission and almost a fourfold increased risk in patients with high baseline s-Cys-C at PICU *** levels were highly predictive of AKI during the follow-up period[area under the curve(AUC)=0.76,95%confidence interval(CI)0.61-0.92].The cutoff point with the highest correctly classified proportion was 223 ng/mL(≥12 centiles)which correctly predict 80.0%patients with AKI,with a corresponding sensitivity of 72.7%and a specificity of 89.9%.AUC for s-Cys-C was 0.86(95%CI 0.75-0.97),and the highest correctly classified proportion was 1009μg/L(≥13 centiles);75%of patients with AKI,with a corresponding sensitivity of 63.6%and a specificity of 88.9%.Conclusion uNGAL and s-Cys-C predicts AKI early in critically ill children.

关键词： Acute kidney injury Neutrophil gelatinase-associated lipocalin Serum cystatin C

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