Scholarlink

Background <p>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).</p> Methods <p>This retrospective cohort study enrolled patients with KS who visited a single tertiary center from 2003 to 2023.</p> Results <p>Sixty-five patients (28 boys) were diagnosed with KS at a median age of 2.7&#xa0;years (interquartile range [IQR]&#xa0;=&#xa0;1.0–9.3) and followed until a median age of 9.4&#xa0;years (IQR&#xa0;=&#xa0;5.5–14.3). Genetic analysis identified <i>KMT2D</i> and <i>KDM6A</i> 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&#xa0;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.</p> Conclusions <p>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.</p> Graphical abstract <p></p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Long-term kidney outcomes in patients with Kabuki syndrome

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年5月28日

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

摘要

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.

Graphical abstract