Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy | Orphanet Journal of Rare Diseases | Full Text

Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy | Orphanet Journal of Rare Diseases | Full Text

Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy

• Robert E. BrownEmail author,
• Senthil Senniappan,
• Khalid Hussain and
• Mary F. McGuire

Orphanet Journal of Rare Diseases201712:181

https://doi.org/10.1186/s13023-017-0735-9

©  The Author(s). 2017

Received: 21 July 2017

Accepted: 6 December 2017

Published: 16 December 2017

Abstract

We first introduced the concept of the mTOR pathway’s involvement in congenital hyperinsulinism of infancy (CHI), based largely on morphoproteomic observations and clinical outcomes using sirolimus (rapamycin) as a therapeutic agent in infants refractory to octreotide and diazoxide treatment. Subsequent publications have verified the efficacy of such treatment in some cases but limited and variable in others. We present further evidence of a constant but variable role for the mTOR pathway in the biology of CHI and provide a strategy that allows for the short-term testing of sirolimus in individual CHI patients.

Keywords

MorphoproteomicsBiomedical analyticsCongenital hyperinsulinism of infancySirolimus