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Kidney Week

Abstract: FR-PO646

Kidney and Urinary Manifestations in Kabuki Syndrome

Session Information

  • Pediatric Nephrology - II
    November 03, 2023 | Location: Exhibit Hall, Pennsylvania Convention Center
    Abstract Time: 10:00 AM - 12:00 PM

Category: Pediatric Nephrology

  • 1900 Pediatric Nephrology

Authors

  • Lee, Hyeonju, Seoul National University Children's Hospital, Seoul, Korea (the Republic of)
  • Park, Peong Gang, Seoul National University Children's Hospital, Seoul, Korea (the Republic of)
  • Choi, Naye, Seoul National University Children's Hospital, Seoul, Korea (the Republic of)
  • Shin, Hyeri, Seoul National University Children's Hospital, Seoul, Korea (the Republic of)
  • Ko, Jung Min, Seoul National University Children's Hospital, Seoul, Korea (the Republic of)
  • Kang, Hee Gyung, Seoul National University Children's Hospital, Seoul, Korea (the Republic of)
  • Ahn, Yo Han, Seoul National University Children's Hospital, Seoul, Korea (the Republic of)
Background

Kabuki syndrome (KS) is a rare genetic disorder caused by pathogenic variants in KMT2D (formerly MLL2) or KDM6A. It is characterized by multiple abnormalities including typical facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature. Kidney and urinary manifestations of this syndrome include congenital anomalies of the kidneys and urinary tract (CAKUT), and there were some reports of kidney stone and kidney failure. This study aimed to describe the clinical features and prevalence of renal manifestations in KS patients.

Methods

All genetically confirmed KS patients who visited the Seoul National University Children’s Hospital during the period of 2000 to 2023 were included. Medical records were retrospectively reviewed for clinical and laboratory findings.

Results

Sixty-one patients (28 males) were reviewed in this study. Their median age at diagnosis was 32 months (interquartile range (IQR) 9-110). Causative gene of KS were KMT2D in 58 cases and KDM6A in 3. CAKUT were found in total of 16 (26.2%) patients, including horseshoe kidney (n=6), ectopic kidney (n=5), vesicoureteral reflux (n=2), hypoplastic kidneys (n=2), multicystic dysplastic kidney (n=1), duplex kidney (1), unilateral renal agenesis (n=1), and hydronephrosis (1). In addition, 4 (6.6%) patients had kidney stones or nephrocalcinosis and two had ureter stones. Kidney function at diagnosis was normal in all patients, and one had proteinuria of tubular origin. After median follow-up of 5 years (IQR 2.5-7.5), kidney function did not decrease except for one patient, whose estimated GFR at age of 15 was 59 after partial nephrectomy due to complicated cysts.

Conclusion

More than one third of patients of KS had kidney or urinary involvement, and some of them progress to CKD. Therefore, screening for kidney or urinary problems and regular follow-up would be necessary for KS patients.