ABSTRACT

Introduction: Over the past decades, a large amount of both adult and pediatric data has shown relationship between Nonalcoholic Fatty Liver Disease (NAFLD) and chronic kidney disease (CKD), resulting in an overall increased cardiometabolic burden. In view of the remarkable role of the genetic background in the NAFLD pathophysiology, a potential influence of the major NAFLD polymorphisms (e.g. the I148M variant of the Patatin-like phospholipase containing domain 3 (PNPLA3) gene, the E167K allele of the Transmembrane 6 superfamily member 2 (TM6SF2), the hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13), and the Membrane bound O-acyltransferase domain containing 7-transmembrane channel-like 4 (MBOAT7-TMC4) genes) on renal function has been supposed. A shared metabolic and proinflammatory pathogenesis has been hypothesized, but the exact mechanism is still unknown.

Areas covered: We provide a comprehensive review of the potential genetic link between NAFLD and CKD in children. Convincing both adult and pediatric evidence supports this association, but there is some dispute especially in childhood.

Expert opinion: Evidence supporting a potential genetic link between NAFLD and CKD represents an intriguing aspect with a major clinical implication because of its putative role in improving strategy programs to counteract the higher cardiometabolic risk of these patients.

摘要

简介：在过去的几十年中，大量的成人和儿童数据表明，非酒精性脂肪肝 (NAFLD) 和慢性肾病 (CKD) 之间存在相关性，导致心脏代谢负担总体增加。鉴于遗传背景在 NAFLD 病理生理学中的显着作用，主要 NAFLD 多态性（例如含有结构域 3 ( PNPLA3 ) 基因的 Patatin样磷脂酶的 I148M 变体、跨膜 6 超家族的 E167K 等位基因）的潜在影响成员 2 ( TM6SF2 )、羟基类固醇 17-β 脱氢酶 13 ( HSD17B13 ) 和已经假定膜结合的 O-酰基转移酶结构域（含有 7-跨膜通道样 4 ( MBOAT7-TMC4 ) 基因）对肾功能有影响。已经假设共同的代谢和促炎发病机制，但确切的机制仍然未知。

涵盖的领域：我们对儿童 NAFLD 和 CKD 之间潜在的遗传联系进行了全面审查。令人信服的成人和儿童证据都支持这种关联，但存在一些争议，尤其是在儿童时期。

专家意见：支持 NAFLD 和 CKD 之间潜在遗传联系的证据代表了一个具有重大临床意义的有趣方面，因为它在改进战略计划以抵消这些患者的较高心脏代谢风险方面的推定作用。