ESPE Abstracts (2015) 84 P-2-387

Biovascular Markers in Children with Kabuki Syndrome

Dina Schotta, Berbel Koogerb, Jörgen Bieraub, Willem-Jan Gerverb, Luc Zimmermannb & Constance Stumpelb


aAtrium-Orbis Medical Centre, Heerlen, The Netherlands; bMaastricht University Medical Centre, Maastricht, The Netherlands


Background: Asymmetric dimethylarginine (ADMA) is an endogenous competitive inhibitor of endothelial nitric oxide synthase (NOS), which prevents synthesis of nitric oxide (NO). Low levels of NO are associated with endothelial dysfunction and an increased risk of cardiovascular disease. Diseases associated with high levels of ADMA include metabolic syndrome, chronic kidney disease, diabetes mellitus, insulin resistance, hyperthyroidism and multiple organ failure. Notable, GH treatment is associated with a significant decrease of ADMA. A rare example of individuals resembling several features matching metabolic syndrome are patients with Kabuki syndrome (KS). KS is a multiple anomaly syndrome mainly characterized by specific facial features, short stature, hypotonia and mental retardation.

Objective and hypotheses: Earlier research showed a positive effect of GH treatment to metabolic parameters. Therefore, a GH treatment study has been started in Maastricht to assess the effect of GH to metabolic parameters in KS children.

Method: 15 prepubertal children with a genetically confirmed diagnose of KS (KMT2D or KDM6A mutation) were included. The KS children received daily GH treatment. Plasma ADMA levels and lipid profiles were measured at baseline and after six months of GH treatment. ADMA levels were assessed using the LC-MS/MS tandem mass spectrometer.

Results: After 6 months of GH treatment, plasma ADMA levels were similar or reduced compared to baseline levels. In addition, total cholesterol was even more decreased compared to baseline levels.

Conclusion: Children with KS receiving GH treatment showed improved biovascular parameters after 6 months compared to baseline levels. Concluding, GH treatment in KS patients seems to be favourable concerning biovascular markers and their associated risk to cardiovascular disease.

Funding: This study is sponsored by Pfizer.

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