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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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COVID-19 and congenital heart disease:a case series of nine children

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World Journal of pediatrics 2021年第1期17卷 71-78页

作者： Elmira Haji Esmaeil Memar Babak Pourakbari Mojtaba Gorgi Meisam Sharifzadeh Ekbatani Amene Navaeian Mahmoud Khodabandeh Shima Mahmoudi Setareh Mamishi pediatrics center of excellence Children's Medical CenterTehran University of Medical SciencesTehranIran pediatric Infectious Disease Research center Tehran University of Medical ScienceTehranIran Division of pediatric Intensive Care Unit Pediatrics Center of ExcellenceChildren's Medical CenterTehran University of Medical SciencesTehranIran department of Infectious Diseases Pediatrics Center of ExcellenceChildren's Medical CenterTehran University of Medical SciencesTehranIran

Background Coronavirus disease 2019(COVID-19)is the current pandemic disease without any vaccine or efficient treat-ment to rescue the *** diseases predispose the patients to a more severe disease and to a higher mortality ***,little evidence exists about COVID-19 outcomes in the pediatric population with congenital heart disease(CHD).Here,we report nine children with COVID-19 and concomitant *** Our study included nine children with COVID-19 and concomitant CHD who were admitted to Children Medical center Hospital during March and April *** patients were classified based on the final outcome(death),and their clinical sign and symptoms,type of CHD,and drugs administered were *** Among the nine patients,two died and we compared different characteristics,laboratory results and clinical findings of these cases based on the *** deceased patients had severe types of CHD,worse arterial blood gases,severe clinical symptoms,higher mean level of partial thromboplastin time and C-reactive protein,and required more *** The present study showed that the general consideration of mild COVID-19 in children does not include patients with CHD and that it is necessary to pay greater attention to children with CHD to determine guidelines for treatment of COVID-19 in these *** to the scarcity of CHD and COVID-19,we reported only nine ***,further studies are highly required in this regard.

关键词： Congenital heart disease Coronavirus disease 2019 pediatrics

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Regulation of kidney development by the Mdm2/Mdm4-p53 axis

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Journal of Molecular Cell Biology 2017年第1期9卷 26-33页

作者： Samir El-Dahr Sylvia Hilliard Zubaida Saifudeen department of pediatrics Section of Pediatric Nephrology Tulane University School of Medicine New Orleans LA 70112 USA

While p53 activity is required for tumour suppression, unconstrained p53 activity on the other hand is detrimental to the organism, resulting in inappropriate cellular death or proliferation defects. Unimpeded p53 activity is lethal in the developing embryo, under- lining the need for maintaining a tight control on p53 activity during this period. The critical role of the negative regulators of p53, Mdm2 and Mdm4, in vertebrate development came to light by fatal disruption of embryogenesis that was observed with Mdm2 and Mdm4 gene deletions in mice. Embryonic lethality was rescued only by superimposing p53 removal. Here we summarize the contri- bution of the Mdm2/Mdm4-p53 axis that occurs at multiple steps of kidney development. Conditional, cell type-specific deletions reveal distinct functions of these proteins in renal morphogenesis. The severe impact on the renal phenotype from targeted gene deletions underscores the critical role played by the Mdm2/Mdm4-p53 nexus on nephrogenesis, and emphasizes the need to monitor patients with aberrations in this pathway for kidney function defects and associated cardiovascular dysfunction.

关键词： progenitor nephrogenesis embryonic metanephric Mdm2/MdmX/p53

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Genetics of congenital and infantile nephrotic syndrome

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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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Clinical presentation and early predictors for poor outcomes in pediatric myocarditis:A retrospective study

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World Journal of Clinical Cases 2019年第5期7卷 548-561页

作者： Moises Rodriguez-Gonzalez Maria Isabel Sanchez-Codez Manuel Lubian-Gutierrez Ana Castellano-Martinez department of pediatric Cardiology Puerta del Mar University Hospital department of pediatrics Puerta del Mar University Hospital department of pediatric nephrology Puerta del Mar University Hospital

BACKGROUND Myocarditis is an important cause of morbidity and mortality in children, leading to long-term sequelae including chronic congestive heart failure, dilated cardiomyopathy, heart transplantation, and death. The initial diagnosis of myocarditis is usually based on clinical presentation, but this widely ranges from the severe sudden onset of a cardiogenic shock to asymptomatic patients. Early recognition is essential in order to monitor and start supportive treatment prior to the development of severe adverse events. Of note, many cases of fulminant myocarditis are usually misdiagnosed as otherwise minor conditions during the weeks before the unexpected *** To provide diagnostic clues to make an early recognition of pediatric *** investigate early predictors for poor *** We conducted a retrospective cross-sectional single-center study from January 2008 to November 2017 at the pediatric department of our institution, including children < 18-years-old diagnosed with myocarditis. Poor outcome was defined as the occurrence of any of the following facts: death, heart transplant, persistent left ventricular systolic dysfunction or dilation at hospital discharge(early poor outcome), or after 1 year of follow-up(late poor outcome). We analyzed different clinical features and diagnostic test findings in order to provide diagnostic clues for myocarditis in children. Multivariable stepwise logistic regression analysis was performed using all variables that had been selected by univariate analysis to determine independent factors that predicted a poor early or late outcome in our study *** A total of 42 patients [69% male; median age of 8(1.5-12) years] met study inclusion criteria. Chest pain(40%) was the most common specific cardiac symptom. Respiratory tract symptoms(cough, apnea, rhinorrhea)(38%),shortness of breath(35%), gastrointestinal tract symptoms(vomiting, abdominal pain, diarrhea)(33%), and fever(31%) were

关键词： Myocarditis Children Echocardiography N-terminal pro-brain natriuretic peptide Myocardial ischemia Cardiac magnetic resonance imaging Heart transplantation Dilated cardiomyopathy

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Environmental factors for the development of fetal urinary malformations

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World Journal of pediatrics 2014年第1期10卷 17-23页

作者： Ming-Yan Hei Zhu-Wen Yi department of pediatrics the Third Xiangya Hospital Central South UniversityChangshaChina pediatric nephrology Research Institute and department of pediatrics the Second Hospital of Central South UniversityChangshaChina

Background:The development of the kidneys and other organs of the urinary tract also follow the natural rule of gene-environment-lifestyle *** intrinsic and extrinsic factors may be associated with the etiology of various kinds of urinary *** environmental factors belong to extrinsic factors,which have attracted increasing attention from ***:Publications about urinary malformations were searched from databases such as PubMed,Elsevier,Chemical Abstract,Excerpta Medica,Chinese Hospital Knowledge Database and Wanfang ***:Urinary malformation is associated with low birth weight,maternal diseases,placental insufficiency,maternal drug exposure,and maternal exposure to environmental *** environment and socioeconomic factors may also influence the incidence of urinary ***:It is important to understand the association of environmental factors with the development of the renal system and urinary malformation in order to decrease the incidence of urinary malformations.

关键词： environment etiology fetus urinary malformation

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Should pediatric idiopathic hypercalciuria be treated with hypocalciuric agents?

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World Journal of nephrology 2021年第4期10卷 47-58页

作者： Maria Goretti Moreira Guimarães Penido Marcelo de Sousa Tavares pediatric nephrology Unit Nephrology Center of Santa Casa de Belo HorizonteBelo Horizonte 30150320Minas GeraisBrazil Federal University of Minas Gerais Faculty of MedicineDepartment of PediatricsPediatric Nephrology UnitBelo Horizonte 30130100Minas GeraisBrazil

BACKGROUND Hypercalciuria is the most common metabolic risk factor for calcium urolithiasis and is associated with bone loss in adult *** bone mineral density(BMD)was already described in idiopathic hypercalciuria(IH)children,but the precise mechanisms of bone loss or inadequate bone mass gain remain ***-long hypercalciuria might be considered a risk to change bone structure and determine low bone mass throughout *** peak of bone mass should occur without interferences.A beneficial effect of citrate formulations and thiazides on bone mass in adult and pediatric patients with IH have been *** To evaluate whether pharmacological therapy has a beneficial effect on bone mass in children and adolescents with *** This retrospective cohort study evaluated 40 hypercalciuric children nonresponsive to lifestyle and diet *** a 2-mo run-in period of citrate formulation(Kcitrate)usage,the first bone densitometry(DXA)was *** patients with sustained hypercalciuria,a thiazide diuretic was *** second DXA was performed after 12 *** densitometry was performed by DXA at lumbar spine(L2-L4).A 24-h urine(calcium,citrate,creatinine)and blood samples(urea,creatinine,uric acid,calcium,phosphorus,magnesium,chloride,hemoglobin)were *** data included age,gender,weight,height and body mass *** Forty IH children;median age 10.5 year and median time follow-up 6.0 year were *** patients were treated with Kcitrate(G1)and 31 with Kcitrate+thiazide(G2).There were no differences in age,gender,body mass index z-score and biochemical parameters between G1 and *** were no increases in total cholesterol,kalemia and *** decreased in both groups after *** spine BMD z-score increased after thiazide treatment in *** was no improvement in *** Results point to a beneficial effect of thiazide on lumbar spine BMD z-score in children with *** studies ar

关键词： Children Adolescent Hypercalciuria Bone mineral density Thiazides Citrate

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Usefulness of mizoribine administration in children with frequently relapsing nephrotic syndrome, and the relationship between pharmacokinetic parameters and efficacy: a multicenter prospective cohort study in China

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World Journal of pediatrics 2019年第3期15卷 262-269页

作者： Zheng-Kun Xia Yuan-Fu Gao Li-Ping Rong Xi-Qiang Dang Qian Shen Xiao-Yun Jiang Zhu-Wen Yi Hong Xu department of pediatrics Jinling HospitalNanjing University School of MedicineNanjing 210002China department of pediatrics The First Affiliated Hospital of Sun Yat—Sen UniversityGuangzhou 510080China department of pediatric nephrology Children’s Medical CenterSecond Xiangya HospitalCentral South University Changsha 410011China department of nephrology and Rheumatology Children’s Hospital of Fudan UniversityShanghai 201102China

Background Mizoribine (MZR) is an immunosuppressant used to treat adult *** is little experience with the drug in treating Chinese children with frequently relapsing nephrotic syndrome (FRNS).We investigated the efficacy and safety for treating MZR with ***,the relationship between efficacy and serum concentration was *** A prospective multicenter observational 12-month study was performed for evaluating the usefulness of MZR with *** MZR concentration was measured,and the relationships between pharmacokinetic parameters (Cmax,AUC),number of relapses,and urinary protein were *** Eighty-two pediatric patients from four hospitals were treated with MZR and *** treatment significantly reduced the number of relapses and steroid doses.A correlation between pharmacokinetic parameters and relapses was observed,which fits well with the sigmoidal Emax *** in the relationship between pharmacokinetic parameters and urinary proteins,it was recognized that there was a threshold in the pharmacokinetic parameters for the therapeutic effect similar to the results obtained with the sigmoidal Emax *** patients (13.4%) experienced mild adverse *** MZR therapy was effective in reducing the number of relapses and steroid *** severe adverse reactions were *** effective serum concentrations were estimated to be Cmax > about 2 μg/mL or AUC > about 10 lag h/*** and steroid treatment were effective and safe for pediatric FRNS.

关键词： Frequently relapsing nephrotic syndrome Mizoribine Pharmacokinetic parameters

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Exome sequencing identifies a likely causative variant in 53%of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

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Genes & Diseases 2024年第5期11卷 40-43页

作者： Konstantin Deutsch Verena Klambt Thomas M.Kitzler Tilman Jobst-Schwan Ronen Schneider Florian Buerger Steve Seltzsam Sherif El Desoky Jameela A.Kari Farkhanda Hafeez Maria Szczepanska Loai A.Eid Hazem S.Awad Muna Al-Saffar Neveen A.Soliman Velibor Tasic Camille Nicolas-Frank Kirollos Yousef Luca M.Schierbaum Sophia Schneider Abdul Halawi Izzeldin Elmubarak Katharina Lemberg Shirlee Shril Shrikant M.Mane Nancy Rodig Friedhelm Hildebrandt Division of nephrology Department of PediatricsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA department of pediatric Gastroenterology Nephrology and Metabolic DiseasesCharite Universitatsmedizin BerlinBerlin 13353Germany Berlin Institute of Health at Charitee Universitatsmedizin Berlin BIH Biomedical Innovation AcademyBIH Charite Clinician Scientist ProgramBerlin 10178Germany department of nephrology and Hypertension FriedrichAlexander-Universitat Erlangen-NurnbergErlangen 91054Germany department of pediatrics Faculty of Medicine King Abdulaziz UniversityPediatric Nephrology Center of ExcellenceKing Abdulaziz University HospitalJeddah 21589Saudi Arabia department of pediatric nephrology The Children’s Hospital and Institute of Child HealthLahore 54000Pakistan department of pediatrics Faculty of Medical Sciences in ZabrzeMedical University of Silesia in KatowiceKatowice 40-752Poland Dubai Hospital and Al-Jalila Children’s Specialty Hospital Kidney Center of ExcellenceDubai 4545United Arab Emirates department of Genetics and Genomics UAE UniversityAbu Dhabi 15551United Arab Emirates department of pediatrics Division of Genetics and GenomicsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA department of pediatrics Center of Pediatric Nephrology and TransplantationKasr Al Ainy School of MedicineCairo UniversityCairo 11562Egypt Egypt center for Research and Regenerative Medicine(ECRRM) Cairo 11511Egypt Medical Faculty Skopje University Children’s HospitalSkopje 1000North Macedonia department of Genetics Yale University School of MedicineNew HavenCT 06520USA

Nephronophthisis-related ciliopathies(NPHP-RC)represent one of the most common causes of chronic kidney disease in the first three decades of life and are characterized by a broad genetic and clinical heterogeneity.1 To date,more than 90 genes have been identified that cause autosomalrecessive NPHP-RC if mutated,accounting for up to 60%of cases.1 Among these,homozygous deletions of NPHP1 are the most common *** genes localize to primary cilia,basal bodies,or the centrosome and lead to a primary ciliary disruption if mutated,thereby causing a broad phenotypical spectrum.1 Patients that suffer from NPHP-RC can either have an isolated renal phenotype,such as polyuria,polydipsia,decreased urinary concentration ability,and secondary enuresis due to loss of tubular function,or present with extrarenal symptoms including retinal degeneration,cerebellar vermis hypoplasia,or hepatic *** are often diagnosed in early adolescence,reaching end-stage renal disease before 25 years of age,but early onset and rapidly progressive forms of NPHP-RC also exist.1 Renal ultrasound indicates kidneys of normal or reduced renal length with increased echogenicity and corticomedullary cysts.

关键词： degeneration urinary likely

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pediatric endocrinopathies related to COVID‑19:an update

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World Journal of pediatrics 2023年第9期19卷 823-834页

作者： Elmira Haji Esmaeli Memar Reihaneh Mohsenipour Seyedeh Taravat Sadrosadat Parastoo Rostami pediatric center of excellence Tehran University of Medical SciencesTehranIran Growth and Development Research center Children’s Medical CenterTehran University of Medical SciencesTehranIran Universal Scientific Education and Research Network(USERN) TehranIran Children’s Medical center Pediatric Center of ExcellenceTehran University of Medical SciencesTehranIran Growth and Development Research center Department of Endocrinology and MetabolismPediatric Center of ExcellenceChildren’s Medical CenterTehran University of Medical SciencesTehranIran

Background Coronavirus disease 2019(COVID-19)is a disease caused by the severe acute respiratory syndrome coronavirus 2(SARS-CoV-2),the seventh coronavirus to be linked to human *** SARS-CoV-2 virus may have several pathophysiologic interactions with endocrine systems,resulting in disruptions in glucose metabolism,hypothalamus and pituitary function,adrenal function,and mineral *** increasing amount of evidence demonstrates both the influence of underlying endocrine abnormalities on the outcome of COVID-19 and the effect of the SARS-CoV-2 virus on endocrine ***,a systematic examination of the link to pediatric endocrine diseases has been *** sources The purpose of this review is to discuss the impact of SARS-CoV-2 infection on endocrine systems and to summarize the available knowledge on COVID-19 consequences in children with underlying endocrine *** this purpose,a literature search was conducted in EMBASE,and data that were discussed about the effects of COVID-19 on endocrine systems were used in the current *** Treatment suggestions were provided for endocrinopathies associated with SARS-CoV-2 *** With the global outbreak of COVID-19,it is critical for pediatric endocrinologists to understand how SARSCoV-2 interacts with the endocrine system and the therapeutic concerns for children with underlying problems who develop *** children and adults share certain risk factors for SARS-CoV-2 infection sequelae,it is becoming obvious that pediatric responses are different and that adult study results cannot be *** pediatric research gives some insight,it also shows the need for more study in this area.

关键词： Coronavirus disease 2019(COVID-19) Endocrine Infection pediatrics

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