Pancreatic malformations as seen in congenital syndromes — Developmental perspective with an alternative view

摘要

Symptomatic patterns of congenital syndromes may be indicative of common developmental mechanisms. A striking similarity has been discovered between the clinical features of multiple congenital anomaly/mental retardation syndromes (MCA/MRs) and the meridians and Zang-Fu theories of Traditional Chinese Medicine (TCM). In this study, an effort has been made to compare the features of MCA/MRs involving various pancreatic malformations with the TCM theories. Clinical synopses of pancreatic malformations were retrieved from the Online Mendelian Inheritance in Man (OMIM) database. Following the standardization of the phenotypic features, frequently co-occurring malformations among such MCA/MRs were discovered using a frequent-pattern mining algorithm. A strong correlation has been discovered between the features of the listed MCA/MRs and the TCM concepts. Pancreatic abnormalities seem to be a constituent part of the midline defect spectrum. Embryonic development of pancreas, liver and kidney are closely related. The pancreas, at least in part, has been incorporated into the TCM concept of the “Kidneys”. The strong correlation between the MCA/MRs and meridians suggests that the latter are genuine reflections of the connections between particular organs during embryonic development. Although the pancreas is a “missed” organ in the TCM theories, its conceptual incorporation into the kidneys is in fact very useful, which can provide new insights into the pathogenesis of pancreatic disorders and lead to more effective treatment for pancreas-related diseases.