Sara Nawfal Sharief1, Nada Abdullatif Hefni1, Walaa Ali Alzahrani1, Iman Ibrahim Nazer1, Marwa Abdullah Bayazeed1, Khalid A Alhasan2, Osama Y Safdar1,3, Sherif M El-Desoky1,3, Jameela Abdulaziz Kari4,5. 1. King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia. 2. College of Medicine, Pediatric Department, King Saud University, Riyadh, Kingdom of Saudi Arabia. 3. Department of Pediatrics, Faculty of Medicine, Pediatric Nephrology Center of Excellence, King Abdulaziz University, PO Box 80215, Jeddah, 21589, Kingdom of Saudi Arabia. 4. King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia. jkari@doctors.org.uk. 5. Department of Pediatrics, Faculty of Medicine, Pediatric Nephrology Center of Excellence, King Abdulaziz University, PO Box 80215, Jeddah, 21589, Kingdom of Saudi Arabia. jkari@doctors.org.uk.
Abstract
BACKGROUND: Congenital and infantile nephrotic syndrome (CNS and INS) are rare inherited defects in glomerular filtration involving a variety of gene mutations. This study aimed to analyze all genetic mutations associated with congenital and infantile nephrotic syndrome treated at our institution. We also discussed our different approach secondary to culture and resources. METHODS: A retrospective single-center study of all children diagnosed as NS before the age of 1 year over a duration of over one decade. RESULTS: Twenty-nine children (12 boys) were included in the study. Their median age (range) was 2.4 (0.1-12) months (20 CNS and 9 INS). Consanguinity was present in 90% of children. The genetic analysis' results were only available for 20 children. An 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 disease. All CNS cases were all managed with intermittent intravenous albumin infusion, ACEi, diuretics, and indomethacin. None of the children were managed by nephrectomy followed by peritoneal dialysis (PD) because of limited resources. Only one child achieved partial remission, while 15 children died at a median (range) age of 5.8 (1.25-29) months. The remaining 14 children were followed up for an average of 36 (3.9-120) months. Three children progressed to end-stage kidney disease and PD was performed in only two children. CONCLUSIONS: NPHS1 is the main underlying cause of CNS and INS in our study population. CNS and INS were associated with high morbidity and mortality.
BACKGROUND:Congenital and infantile nephrotic syndrome (CNS and INS) are rare inherited defects in glomerular filtration involving a variety of gene mutations. This study aimed to analyze all genetic mutations associated with congenital and infantile nephrotic syndrome treated at our institution. We also discussed our different approach secondary to culture and resources. METHODS: A retrospective single-center study of all children diagnosed as NS before the age of 1 year over a duration of over one decade. RESULTS: Twenty-nine children (12 boys) were included in the study. Their median age (range) was 2.4 (0.1-12) months (20 CNS and 9 INS). Consanguinity was present in 90% of children. The genetic analysis' results were only available for 20 children. An 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 disease. All CNS cases were all managed with intermittent intravenous albumin infusion, ACEi, diuretics, and indomethacin. None of the children were managed by nephrectomy followed by peritoneal dialysis (PD) because of limited resources. Only one child achieved partial remission, while 15 children died at a median (range) age of 5.8 (1.25-29) months. The remaining 14 children were followed up for an average of 36 (3.9-120) months. Three children progressed to end-stage kidney disease and PD was performed in only two children. CONCLUSIONS:NPHS1 is the main underlying cause of CNS and INS in our study population. CNS and INS were associated with high morbidity and mortality.
Authors: Bernward G Hinkes; Bettina Mucha; Christopher N Vlangos; Rasheed Gbadegesin; Jinhong Liu; Katrin Hasselbacher; Daniela Hangan; Fatih Ozaltin; Martin Zenker; Friedhelm Hildebrandt Journal: Pediatrics Date: 2007-03-19 Impact factor: 7.124
Authors: Rasheed Gbadegesin; Bernward G Hinkes; Bethan E Hoskins; Christopher N Vlangos; Saskia F Heeringa; Jinhong Liu; Chantal Loirat; Fatih Ozaltin; Seema Hashmi; Francis Ulmer; Roxanna Cleper; Robert Ettenger; Corinne Antignac; Roger C Wiggins; Martin Zenker; Friedhelm Hildebrandt Journal: Nephrol Dial Transplant Date: 2007-12-08 Impact factor: 5.992
Authors: Dominik S Schoeb; Gil Chernin; Saskia F Heeringa; Verena Matejas; Susanne Held; Virginia Vega-Warner; Detlef Bockenhauer; Christopher N Vlangos; Khemchand N Moorani; Thomas J Neuhaus; Jameela A Kari; James MacDonald; Pawaree Saisawat; Shazia Ashraf; Bugsu Ovunc; Martin Zenker; Friedhelm Hildebrandt Journal: Nephrol Dial Transplant Date: 2010-02-18 Impact factor: 5.992