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Abstract：
Nephrolithiasis (NL) is a common condition worldwide. The incidence of NL and nephrocalcinosis (NC) has been increasing, along with their associated morbidity and economic burden. The etiology of NL and NC is multifactorial and includes both environmental components and genetic components, with multiple studies showing high heritability. Causative gene variants have been detected in up to 32% of children with NL and NC. Children with NL and NC are genotypically heterogenous, but often phenotypically relatively homogenous, and there are subsequently little data on the predictors of genetic childhood NL and NC. Most genetic diseases associated with NL and NC are secondary to hypercalciuria, including those secondary to hypercalcemia, renal phosphate wasting, renal magnesium wasting, distal renal tubular acidosis (RTA), proximal tubulopathies, mixed or variable tubulopathies, Bartter syndrome, hyperaldosteronism and pseudohyperaldosteronism, and hyperparathyroidism and hypoparathyroidism. The remaining minority of genetic diseases associated with NL and NC are secondary to hyperoxaluria, cystinuria, hyperuricosuria, xanthinuria, other metabolic disorders, and multifactorial etiologies. Genome-wide association studies (GWAS) in adults have identified multiple polygenic traits associated with NL and NC, often involving genes that are involved in calcium, phosphorus, magnesium, and vitamin D homeostasis. Compared to adults, there is a relative paucity of studies in children with NL and NC. This review aims to focus on the genetic component of NL and NC in children.
摘要：
肾结石（NL）是世界范围内的常见病。NL和肾钙化病（NC）的发病率一直在增加，以及相关的发病率和经济负担。NL和NC的病因是多因素的，包括环境成分和遗传成分。多项研究显示高遗传力。在多达32％的NL和NC儿童中检测到了因果关系基因变异。患有NL和NC的儿童在基因型上是异质的，但通常表型相对均匀，随后关于遗传儿童NL和NC的预测因素的数据很少。大多数与NL和NC相关的遗传疾病继发于高钙尿症，包括那些继发于高钙血症的病人,肾磷酸盐消耗，肾镁消耗,远端肾小管酸中毒（RTA），近端肾小管病变，混合或可变肾小管病变，巴特综合征,醛固酮增多症和假性醛固酮增多症，甲状旁腺功能亢进和甲状旁腺功能减退。其余少数与NL和NC相关的遗传病继发于高草酸尿，胱氨酸尿症,尿毒症过多,黄嘌呤尿症,其他代谢紊乱,和多因素病因。成人全基因组关联研究（GWAS）已经确定了与NL和NC相关的多个多基因性状，通常涉及与钙有关的基因，磷，镁，和维生素D稳态。与成年人相比,NL和NC儿童的研究相对较少。本文旨在对儿童NL和NC的遗传成分进行综述。
