与单等位基因ALG8和ALG9致病变异相关的囊性表型特征

IF 10.3 1区医学 Q1 UROLOGY & NEPHROLOGY

Journal of The American Society of Nephrology Pub Date : 2025-06-01 Epub Date: 2025-02-03 DOI:10.1681/ASN.0000000613

Tabinda Jawaid, Doaa E Elbarougy, Sravanthi Lavu, Guillaume Buia, Sarah R Senum, Eric Olinger, Hana Yang, Shannon K McDonnell, Joshua T Bublitz, Jun Ma, Marie-Pierre Audrézet, Charles D Madsen, Rachel S Schauer, Tracy A Baker, Adriana V Gregory, Sarah E Orr, Miguel Barroso-Gil, Ruxandra Neatu, Giancarlo Joli, Neera K Dahl, Timothy L Kline, Valentine Gillion, Karin Dahan, Francois Jouret, Ronald D Perrone, Theodore I Steinman, Dorien J M Peters, Berenice Y Gitomer, Terry J Watnick, Eliecer Coto, Fouad T Chebib, Marie C Hogan, Janet E Olson, Nicholas B Larson, Elisabet Ars, Jan Halbritter, Nathalie Demoulin, Vicente E Torres, John A Sayer, Emilie Cornec-Le Gall, Peter C Harris

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引用次数: 0

摘要

背景：常染色体显性多囊肾病（ADPKD）是一种常见的遗传性肾病，常导致肾功能衰竭。它在基因上是异质的；除了主要基因PKD1和PKD2外，至少还有8个其他基因被提出。ALG8致病变异与常染色体显性多囊性肝病有关，并与ADPKD有关，而ALG9被认为是ADPKD基因，但其表型和外显率的细节尚不清楚。方法：我们使用全球检测ALG8或ALG9致病变异的方法筛选了bbbb3900个患有囊性肾和/或肝脏的家族。此外，对具有序列数据（Genomics England 100kGP （100kGP）、UK Biobank （UKBB）和Mayo Clinic Biobank (MCBB)）的人群队列进行ALG8/ALG9致病变异筛选。结果：多囊肾和/或肝脏疾病患者的多中心筛查确定了51个（1.3%）ALG8（7个多重型）和23个（0.6%）ALG9（5个多重型）家族；频率比非多囊肾病（PKD）对照组高~ 10倍和~ 24倍。对100kGP、UKBB和MCBB中PKD表型个体进行分析，鉴定出9个ALG8家族（0.39%）和9个ALG9家族（0.39%），频率高于对照组。2例患者出现PKD1和ALG8致病性改变。在整个MCBB成像的ALG8突变个体中，89%的人有肾囊肿（56%，10个囊肿），肾和肝囊肿的中位数比对照组大。在ALG9中，78%的患者有肾囊肿（27%的患者有肾囊肿）。具有ALG8突变的个体通常有轻度囊性肾，增大有限。在11/62的患者中发现肝囊肿（71%）和肝肿大（bbb2l），尽管手术干预很少见。ALG9肾表型也表现为轻度囊性肾，但肝肿大少见；对于这两种基因，慢性肾脏疾病或肾衰竭是罕见的。结论：ALG8和ALG9被定义为囊肾/肝基因，但对eGFR较低的外显率有限。

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Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants.

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来源期刊

Journal of The American Society of Nephrology 医学-泌尿学与肾脏学

CiteScore

22.40

自引率

2.90%

发文量

492

审稿时长

3-8 weeks

期刊介绍： The Journal of the American Society of Nephrology (JASN) stands as the preeminent kidney journal globally, offering an exceptional synthesis of cutting-edge basic research, clinical epidemiology, meta-analysis, and relevant editorial content. Representing a comprehensive resource, JASN encompasses clinical research, editorials distilling key findings, perspectives, and timely reviews. Editorials are skillfully crafted to elucidate the essential insights of the parent article, while JASN actively encourages the submission of Letters to the Editor discussing recently published articles. The reviews featured in JASN are consistently erudite and comprehensive, providing thorough coverage of respective fields. Since its inception in July 1990, JASN has been a monthly publication. JASN publishes original research reports and editorial content across a spectrum of basic and clinical science relevant to the broad discipline of nephrology. Topics covered include renal cell biology, developmental biology of the kidney, genetics of kidney disease, cell and transport physiology, hemodynamics and vascular regulation, mechanisms of blood pressure regulation, renal immunology, kidney pathology, pathophysiology of kidney diseases, nephrolithiasis, clinical nephrology (including dialysis and transplantation), and hypertension. Furthermore, articles addressing healthcare policy and care delivery issues relevant to nephrology are warmly welcomed.