Nephrotic Syndrome Throughout Childhood: Diagnosing Podocytopathies From the Womb to the Dorm.

IF 1.3 4区 医学 Q3 PATHOLOGY
Pediatric and Developmental Pathology Pub Date : 2024-09-01 Epub Date: 2024-05-14 DOI:10.1177/10935266241242669
Laura S Finn
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引用次数: 0

Abstract

The etiologies of podocyte dysfunction that lead to pediatric nephrotic syndrome (NS) are vast and vary with age at presentation. The discovery of numerous novel genetic podocytopathies and the evolution of diagnostic technologies has transformed the investigation of steroid-resistant NS while simultaneously promoting the replacement of traditional morphology-based disease classifications with a mechanistic approach. Podocytopathies associated with primary and secondary steroid-resistant NS manifest as diffuse mesangial sclerosis, minimal change disease, focal segmental glomerulosclerosis, and collapsing glomerulopathy. Molecular testing, once an ancillary option, has become a vital component of the clinical investigation and when paired with kidney biopsy findings, provides data that can optimize treatment and prognosis. This review focuses on the causes including selected monogenic defects, clinical phenotypes, histopathologic findings, and age-appropriate differential diagnoses of nephrotic syndrome in the pediatric population with an emphasis on podocytopathies.

贯穿儿童期的肾病综合征:从子宫到宿舍诊断荚膜组织病变。
导致小儿肾病综合征(NS)的荚膜细胞功能障碍的病因多种多样,并随发病年龄而变化。许多新型遗传性荚膜细胞病的发现和诊断技术的发展改变了对类固醇耐受性 NS 的研究,同时也促进了以机理方法取代传统的基于形态学的疾病分类。与原发性和继发性类固醇耐受性 NS 相关的荚膜细胞病表现为弥漫性系膜硬化、微小病变、局灶节段性肾小球硬化和塌陷性肾小球病。分子检测曾经是一种辅助手段,现在已成为临床研究的重要组成部分,如果与肾活检结果结合使用,可提供优化治疗和预后的数据。本综述将重点讨论肾病综合征的病因(包括选定的单基因缺陷)、临床表型、组织病理学发现和与年龄相适应的鉴别诊断,重点是荚膜细胞病。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
3.70
自引率
5.30%
发文量
59
审稿时长
6-12 weeks
期刊介绍: The Journal covers the spectrum of disorders of early development (including embryology, placentology, and teratology), gestational and perinatal diseases, and all diseases of childhood. Studies may be in any field of experimental, anatomic, or clinical pathology, including molecular pathology. Case reports are published only if they provide new insights into disease mechanisms or new information.
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