Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.
Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.
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DOI：
10.1007/s00467-014-2856-x
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发表时间：
2014-11
影响因子：
3
通讯作者：
Marks, Stephen D.
中科院分区：
文献类型：
--
作者：
Kari, Jameela A.;Montini, Giovanni;Bockenhauer, Detlef;Brennan, Eileen;Rees, Lesley;Trompeter, Richard S.;Tullus, Kjell;van't Hoff, William;Waters, Aoife;Ashton, Emma;Lench, Nicholas;Sebire, Neil J.;Marks, Stephen D.
肾病综合征（NS）是由异质性肾小球疾病引起的，在生命早期出现。我们回顾性评估了在出生后第一年内表现为NS的儿童的组织学诊断是否预测了缓解或进展为终末期肾病（ESKD）。这是一项对1990年至2009年期间1岁之前诊断为NS的所有儿童进行的单中心回顾性审查。所有受试者均进行了肾活检，出于本研究的目的，由一名肾脏病理学家进行独立盲态审查。49名儿童（25名女性）在0.1-11.6（中位数1.6）个月时就诊，其中31名在出生后前3个月内就诊。组织学审查诊断类别为：13例系膜增生性肾小球病（MesGN）、12例局灶性节段性肾小球硬化（FSGS）、11例芬兰型改变、8例弥漫性系膜硬化（DMS）、3例微小病变（MCD）以及致密存款病（DDD）和膜性肾病各1例。两名儿童死于活检的出血并发症。在5-222（中位73）个月的随访期间（5例失访），8例儿童获得缓解（4例MesGN，1例芬兰型变化，1例FSGS，1例MCD和1例膜性），患者和肾脏生存率分别为73%和43%。所有芬兰型组织病理学变化的儿童在5个月内出现。由于该队列的历史性质，仅对14名儿童进行了基因检测，其中9名具有可识别的遗传基础（7名NPHS 1，1名PLCE 1和1名ITGA 3），这9名儿童中没有一名获得缓解。所有患者均在4个月内就诊，需要肾脏替代治疗，其中2例死亡。在生命早期出现NS的儿童中，组织学结果各不相同。虽然疾病的组织学模式组与不同的结果相关，但在特定情况下准确预测疾病过程是困难的，更广泛的基因检测可能会提高对这组疾病及其最佳管理的理解
Nephrotic syndrome (NS) presenting early in life is caused by heterogeneous glomerular diseases. We retrospectively evaluated whether histological diagnosis in children presenting with NS in the first year of life predicts remission or progression to end-stage kidney disease (ESKD). This is a single centre retrospective review of all children diagnosed with NS before one year of age between 1990 and 2009. All subjects had a renal biopsy, which was independently blindly reviewed by a single renal pathologist for the purpose of this study. Forty-nine children (25 female) who presented at 0.1–11.6 (median 1.6) months were included with 31 presenting within the first three months of life. Histopathological review diagnostic categories were; 13 Mesangial proliferative glomerulopathy (MesGN), 12 Focal and segmental glomerulosclerosis (FSGS), 11 Finnish type changes, eight Diffuse Mesangial Sclerosis (DMS), three Minimal change disease (MCD) and one each of Dense Deposit Disease (DDD) and Membranous nephropathy. Two children died from haemorrhagic complications of the biopsy. Eight children achieved remission (four MesGN, one Finnish type changes, one FSGS, one MCD and one membranous) with patient and renal survival of 73 % and 43 %, respectively, at follow-up duration of 5–222 (median 73) months (with five lost to follow-up). All children with Finnish-type histopathological changes presented within five months of age. Due to the historical nature of the cohort, genetic testing was only available for 14 children, nine of whom had an identifiable genetic basis (seven NPHS1, one PLCE1 and one ITGA3) with none of these nine children achieving remission. All of them had presented within four months of age and required renal replacement therapy, and two died. Histopathological findings are varied in children presenting with NS early in life. Whilst groups of histological patterns of disease are associated with differing outcomes, accurate prediction of disease course in a specific case is difficult and more widespread genetic testing may improve the understanding of this group of diseases and their optimal management
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