Pediatric endocrine and metabolic diseases and proteomics

J Proteomics. 2018 Sep 30;188:46-58. doi: 10.1016/j.jprot.2018.03.011. Epub 2018 Mar 18.

Abstract

The principles of Predictive, Preventive and Personalized Medicine (PPPM) dictate the need to recognize individual susceptibility to disease in a timely fashion and to offer targeted preventive interventions and treatments. Proteomics is a state-of-the art technology- driven science aiming at expanding our understanding of the pathophysiologic mechanisms that underlie disease, but also at identifying accurate predictive, diagnostic and therapeutic biomarkers, that will eventually promote the implementation of PPPM. In this review, we summarize the wide spectrum of the applications of Mass Spectrometry-based proteomics in the various fields of Pediatric Endocrinology, including Inborn Errors of Metabolism, type 1 diabetes, Adrenal Disease, Metabolic Syndrome and Thyroid disease, ranging from neonatal screening to early recognition of specific at-risk populations for disease manifestations or complications in adult life and to monitoring of disease progression and response to treatment.

Significance: Proteomics is a state-of-the art technology- driven science aiming at expanding our understanding of the pathophysiologic mechanisms that underlie disease, but also at identifying accurate predictive, diagnostic and therapeutic biomarkers that will eventually lead to successful, targeted, patient-centric, individualized approach of each patient, as dictated by the principles of Predictive, Preventive and Personalized Medicine. In this review, we summarize the wide spectrum of the applications of Mass Spectrometry-based proteomics in the various fields of Pediatric Endocrinology, including Inborn Errors of Metabolism, type 1 diabetes, Adrenal Disease, Metabolic Syndrome and Thyroid disease, ranging from neonatal screening, accurate diagnosis, early recognition of specific at-risk populations for the prevention of disease manifestation or future complications.

Keywords: Children; Endocrinology; Mass-spectrometry; Pediatrics; Proteomics.

Publication types

  • Review

MeSH terms

  • Child
  • Child, Preschool
  • Early Diagnosis
  • Endocrine System Diseases* / diagnosis
  • Endocrine System Diseases* / therapy
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mass Screening
  • Mass Spectrometry
  • Metabolic Diseases* / diagnosis
  • Metabolic Diseases* / therapy
  • Pediatrics / methods*
  • Precision Medicine / methods*
  • Proteomics / instrumentation
  • Proteomics / methods