儿童先天性孤立肾伴CAKUT研究进展

Research Progress on Congenital Solitary Functioning Kidney in Children with CAKUT

摘要: 先天性孤立肾(congenital Solitary Functioning Kidney, cSFK)本身属于先天性肾脏和尿路畸形(Congenital Anomalies of the Kidney and Urinary Tract, CAKUT)谱系中的一种常见类型，其发生率约为1/2000。研究表明，约三分之一的患儿在孤立肾基础上仍可伴发其他类型的CAKUT，如膀胱输尿管反流(VUR)或肾盂输尿管连接部梗阻(UPJO)。当这些异常与孤立肾同时存在时，可能对单个功能肾造成额外负担，形成所谓的“双重打击”：一方面肾单位减少导致代偿性高滤过，另一方面其他CAKUT引发进行性肾损害。遗传因素如HNF1B、PAX2突变进一步加剧肾脏结构脆弱性。长期随访显示，伴CAKUT的孤立肾患儿肾功能下降、蛋白尿、高血压及终末期肾病的风险显著升高。影像学监测应基于风险分层，外科干预指征在孤立肾状态下需更加积极。生活方式干预与过渡期护理对延缓肾功能恶化至关重要。精准识别高风险人群、早期干预与终身管理是改善预后的关键。

Abstract: Congenital solitary functioning kidney (cSFK) is a common phenotype within the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT), with an estimated incidence of approximately 1 in 2000. Previous studies have shown that nearly one-third of affected children may present with additional forms of CAKUT, such as vesicoureteral reflux (VUR) or ureteropelvic junction obstruction (UPJO). When these anomalies coexist with a solitary functioning kidney, they may impose an additional burden on the single kidney, resulting in a so-called “double hit”: on the one hand, a reduced nephron number leads to compensatory hyperfiltration; on the other hand, concomitant CAKUT contributes to progressive renal injury. Genetic factors, including mutations in HNF1B and PAX2, may further increase structural vulnerability of the kidney. Long-term follow-up studies have demonstrated that children with cSFK accompanied by CAKUT are at significantly higher risk of renal function decline, proteinuria, hypertension, and end-stage renal disease. Imaging surveillance should be guided by risk stratification, and surgical intervention may need to be considered more proactively in the context of a solitary kidney. Lifestyle modification and transitional care are essential for delaying the progression of renal dysfunction. Precise identification of high-risk populations, early intervention, and lifelong management are key to improving prognosis.