Long-term kidney outcomes in patients with Kabuki syndrome.

IF 2.6 3区医学 Q1 PEDIATRICS

Pediatric Nephrology Pub Date : 2025-10-01 Epub Date: 2025-05-28 DOI:10.1007/s00467-025-06815-0

Seongjae Han, Hyeonju Lee, Peong Gang Park, Naye Choi, Yo Han Ahn, Jung Min Ko, Hee Gyung Kang

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Abstract

Background: This study assessed the clinical features, prevalence of kidney and urinary manifestations, and progression of chronic kidney disease (CKD) in patients with Kabuki syndrome (KS).

Methods: This retrospective cohort study enrolled patients with KS who visited a single tertiary center from 2003 to 2023.

Results: Sixty-five patients (28 boys) were diagnosed with KS at a median age of 2.7 years (interquartile range [IQR] = 1.0-9.3) and followed until a median age of 9.4 years (IQR = 5.5-14.3). Genetic analysis identified KMT2D and KDM6A mutations in 59 and 3 patients, respectively. Congenital anomalies of the kidneys and urinary tract (CAKUT) were found in 21 of 62 patients (33.9%), whereas 7 of 62 patients (11.3%) patients had nephrolithiasis and/or nephrocalcinosis. Meanwhile, 19 of 56 patients (33.9%) progressed to CKD. CKD-free survival analysis illustrated that 25% and 50% of these patients progressed to CKD stage G2 at median ages of 5.8 and 24.6 years, respectively. Younger age at diagnosis and the presence of bilateral kidney anomalies were identified as significant predictors of CKD progression. CAKUT and cardiorenal syndrome were the leading causes of CKD.

Conclusions: One-third of patients with KS exhibited various kidney or urinary abnormalities, and 34% progressed to CKD. Screening for kidney or urinary issues and regular follow-up of kidney function are essential for KS management.

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歌舞伎综合征患者的长期肾脏预后。

背景：本研究评估了歌舞伎综合征（Kabuki syndrome， KS）患者的临床特征、肾脏和泌尿系统表现的患病率以及慢性肾脏疾病（CKD）的进展。方法：本回顾性队列研究纳入了2003年至2023年在单一三级中心就诊的KS患者。结果：65例（28例男孩）被诊断为KS，中位年龄为2.7岁（四分位数间距[IQR] = 1.0-9.3），随访至中位年龄9.4岁（IQR = 5.5-14.3）。遗传分析分别在59例和3例患者中发现了KMT2D和KDM6A突变。62例患者中有21例（33.9%）发现先天性肾脏和尿路异常，而7例（11.3%）患者有肾结石和/或肾钙质沉着症。同时，56例患者中有19例（33.9%）进展为CKD。无CKD生存分析显示，25%和50%的患者分别在中位年龄为5.8岁和24.6岁时进展为CKD G2期。较年轻的诊断年龄和双侧肾脏异常的存在被认为是CKD进展的重要预测因素。CAKUT和心肾综合征是CKD的主要原因。结论：三分之一的KS患者表现出各种肾脏或泌尿系统异常，34%的患者进展为CKD。筛查肾脏或泌尿系统问题和定期随访肾功能是必不可少的KS管理。

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

Pediatric Nephrology 医学-泌尿学与肾脏学

CiteScore

4.70

自引率

20.00%

发文量

465

审稿时长

1 months

期刊介绍： International Pediatric Nephrology Association Pediatric Nephrology publishes original clinical research related to acute and chronic diseases that affect renal function, blood pressure, and fluid and electrolyte disorders in children. Studies may involve medical, surgical, nutritional, physiologic, biochemical, genetic, pathologic or immunologic aspects of disease, imaging techniques or consequences of acute or chronic kidney disease. There are 12 issues per year that contain Editorial Commentaries, Reviews, Educational Reviews, Original Articles, Brief Reports, Rapid Communications, Clinical Quizzes, and Letters to the Editors.