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Prevalence of Renal Failure in Children and the Need for Dialysis in Paediatric Nephrology in a Developing Country
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作者 Younoussa Keita Aliou A. Ndongo +14 位作者 Fatou Ly Ndeye C. Cisse Liliane N. D. M. Yamba Babacar Niang Djiby Seck Amadou Sow Ndeye F. Sow Abou Ba Indou D. Ly Aliou Thiongane Amadou L. Fall Idrissa D. Ba Modou Gueye Pape M. Faye Assane Sylla 《Open Journal of Nephrology》 2022年第1期101-111,共11页
Background: Renal failure is among the major visceral failures responsible for morbidity and mortality in children. Epidemiological data on renal failure in children are limited in sub-Saharan Africa, including Senega... Background: Renal failure is among the major visceral failures responsible for morbidity and mortality in children. Epidemiological data on renal failure in children are limited in sub-Saharan Africa, including Senegal. We conducted this study to assess the prevalence of renal failure (RF) and the need for dialysis in the paediatric nephrology unit. Patients and methods: This was a retrospective and descriptive study in the pediatric nephrology unit from 1st January 2020 to 30 June 2021, including children with acute or chronic RF. The need for dialysis was judged to be met by its effectiveness in face of an indication. The data collected were analysed on sphinx plus 2017 software. Results: The prevalence of RF was 60% (n/N = 132/220). RF was acute in 59% (n/N = 78/132) of cases. The mean age was 6.53 ± 4.77 years with a sex ratio of 1.8. The mean serum creatinine level was 27.22 mg/L (240.9 μmol/L) and BUN at 0.85 g/L. The aetiologies were dominated by prerenal AKI (Acute Kidney Injury) complicating nephrotic syndrome (NS) in 37.2% (n/N = 29/78) and dehydration due to stomach flu in 17.6% (n/N = 9/51). Acute post-infectious glomerulonephritis including group A streptococcus and plasmodium falciparum accounted for 16.7% (n = 13/78) of intrinsic AKI. The need for dialysis was unmet in 50% (n/N = 7/14) with a mortality of 14.1% (n/N = 11/78). The mean age of the patients with chronic RF was 8.68 ± 4.74 years with a sex ratio of 2.6. The mean serum creatinine level was 36.56 mg/L (323.5 μmol/L) and the BUN level was 0.99 g/L. Half of the children were classified as having CKD stage II (early stage). The aetiologies were dominated by primary focal and segmental glomerulosclerosis (FSGS), 53.7% (n/N = 29/54), renal hypoplasia, 22.2% (n/N = 12/54) and reflux nephropathy, 29.4% (n/N = 5/17). The need for dialysis was unmet in 46.1% (n/N = 6/13). The overall mortality of chronic kidney disease (CKD) with RF was 29.6% (n/N = 8/27). Conclusion: The prevalence of RF was high in the unit. Most aetiologies of AKI were accessible to prevention. Only half of the children had access to free dialysis, hence the need for a dedicated pilot dialysis centre. 展开更多
关键词 Renal Failure GLOMERULONEPHRITIS hypodysplasia DIALYSIS CHILDREN
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1例肾脏发育不全或缺如3型胎儿产前超声表型及遗传学分析
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作者 孙恒青 李珂 +3 位作者 赵丽娟 孙阁阁 孔祥东 刘宁 《中华实用诊断与治疗杂志》 2024年第4期359-362,共4页
目的分析1例GREB1L基因突变所致肾脏发育不全或缺如(RHDA)3型胎儿的产前超声表型和遗传学特征。方法2023年2月6日郑州大学第一附属医院诊治1例因产前超声异常行妊娠期遗传咨询的25岁孕妇,收集引产胎儿皮肤组织及夫妇双方外周静脉血,进... 目的分析1例GREB1L基因突变所致肾脏发育不全或缺如(RHDA)3型胎儿的产前超声表型和遗传学特征。方法2023年2月6日郑州大学第一附属医院诊治1例因产前超声异常行妊娠期遗传咨询的25岁孕妇,收集引产胎儿皮肤组织及夫妇双方外周静脉血,进行全外显子组测序,应用HGMD、ClinVar、ExAC、1000Genomes和gnomAD等数据库对基因突变位点进行检索;参照《遗传变异分类标准与指南》及美国医学遗传学和基因组学学会(ACMG)指南进行突变致病性评级;应用Uniprot数据库预测该基因编码蛋白质结构。收集夫妇双方及胎儿临床资料,分析胎儿产前超声表型和遗传学特征。结果孕妇经遗传咨询后引产1男胎。产前超声提示胎儿颈背部皱褶厚度增厚,双肾缺如,无膀胱和羊水,胃泡体积小和少量心包积液。胎儿携带GREB1L基因c.5429_5442dupGGCC(p.Ile1815fs)移码突变,父母均未携带该突变,属于新发突变,该突变未见文献报道,HGMD和ClinVar数据库未见收录。该突变导致氨基酸编码异常,引起蛋白质功能改变(PVS1);在ExAC、1000Genomes和gnomAD数据库均未发现(PM2_Supporting);为经双亲验证的新发突变(PS2);初步判定为致病性突变(PVS1+PM2_Supporting+PS2)。结论GREB1L基因c.5429_5442dupGGCC移码突变为新发突变,是导致该家系胎儿RHDA3型的遗传学病因,产前超声主要表现为双肾缺如。 展开更多
关键词 肾脏发育不全或缺如3型 GREB1L基因 基因突变 全外显子组测序 产前超声
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