The Molecular Genetics of Hirschsprung’s Disease

摘要: Hirschsprung’s disease (HSCR), or aganglionic megacolon, is a classic example of complex genetic disease, characterized by the lack enteric ganglia in submucosal and myenteric plexuses, along variable portions distal gut. Since it caused premature arrest migration neural crest cells hindgut, defined also as neurocristopathy. The extent aganglionosis correlates with severity leading to classification HSCR into short- long-segment phenotypes [1, 2]. S-forms include confined below rectosigmoid junction (80% patients), while L-forms (20% patients) can extend splenic flexure (colonic forms, 9%), whole colon (total colonic aganglionosis, TCA, 5–10%), up bowel intestinal). congenital malformation occurring 1 5,000 live births, highest incidence Asian populations (2.8 10,000), intermediate Afro-Americans (2.1 10,000) Caucasians (1.5 lowest Hispanics (1 10,000). male female ratio 4:1, sex imbalance particularly evident for (ranging from 4.2 5.5 S-form 1.2 1.9 L-form aganglionosis) [1–3] (Table 5.1).