Research Project

Project Title:	Renal damage and evolution of kidney function in patients with Kabuki syndrome
Project Type:	Observational Study, Enrolment ongoing
Disease group(s):	Congenital malformations & ciliopathies
Project Summary:	KABUKI Syndrome is a rare syndromic disease autosomal dominante linked to gene abnormalities KMT2D or KDM6A. This syndrome is characterized by multi-system abnormalities such as typical facial dysmorphism, minor skeletal damage, dermatological damage, intellectual deficit and/or postnatal developmental delay. It can also include other conditions such as congenital heart disease, ophthalmological, ENT, gastrointestinal, odontological, immunological, neurological and endocrinological anomaly. The renal impairment is frequent but only represented by renal and urinary tract malformations (horseshoe kidney, reflux, hydronephrosis) in the literature. The frequency of which varies according to the publications (12-43%) . However, the outcome of renal function in these patients remains unclear with a few reported cases of end-stage renal failure. We would therefore like to identify all national cases of KABUKI syndrome in order to determine : 1. The frequency of kidney damage at the national level and the type of damage. 2. The future of long-term renal function, which is currently poorly understood.
Lead principal investigator(s):	Stephane Decramer, Toulouse Colliou Eloise, Toulouse
Project Period:	01/2023 - 12/2025