Clinical aspects of neurointestinal disease: Pathophysiology, diagnosis, and treatment

•Enteric neurons arise from neural crest cells and regulate gastrointestinal function.•Congenital neurointestinal diseases result from abnormal development of enteric neurons.•Acquired neurointestinal diseases result from neuronal degeneration, inflammation, or infection.•Treatment of neurointestinal diseases is lacking due to incomplete understanding of their underlying pathophysiology.

The enteric nervous system (ENS) is involved in the regulation of virtually all gut functions. Conditions referred to as enteric neuropathies are the result of various mechanisms including abnormal development, degeneration or loss of enteric neurons that affect the structure and functional integrity of the ENS. In the past decade, clinical and molecular research has led to important conceptual advances in our knowledge of the pathogenetic mechanisms of these disorders. In this review we consider ENS disorders from a clinical perspective and highlight the advancing knowledge regarding their pathophysiology. We also review current therapies for these diseases and present potential novel reparative approaches for their treatment.