ArticlePediatric nephrology (Berlin, Germany)2025
Long-term kidney outcomes in patients with Kabuki syndrome.
Article in Pediatric nephrology (Berlin, Germany), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Letter to the Editor: Long-term kidney outcomes in patients with Kabuki syndrome.Pediatric nephrology (Berlin, Germany) · 2026Article
- When one genetic variant does not explain everything.Pediatric nephrology (Berlin, Germany) · 2026Article
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Authors and funding
7 authors.
Funding
Abstract
backgroundThis study assessed the clinical features, prevalence of kidney and urinary manifestations, and progression of chronic kidney disease (CKD) in patients with Kabuki syndrome (KS).
methodsThis retrospective cohort study enrolled patients with KS who visited a single tertiary center from 2003 to 2023.
resultsSixty-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.
conclusionsOne-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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