hirschsprungs disease การใช้

• Peripherin can also play a role in the definitive diagnosis of Hirschsprung disease.
• This gene is a candidate gene for Hirschsprung disease.
• Sometimes this is concurrent with Hirschsprung disease.
• Other diseases, such as Hirschsprung disease, result from loss-of-function variants.
• The differential for low obstruction is ileal atresia, meconium ileus, meconium plug syndrome and Hirschsprung disease.
• The multigenic disorder, Hirschsprung disease type 2, is due to mutation in endothelin receptor type B gene.
• The major gene of Hirschsprung disease was identified in this chromosomal 10 region, it was the RET proto-oncogene.
• Hirschsprung disease is due to an arrest in neural cell ventilatory support may be needed due to poor neonatal nutrition resulting from dysfunctional bowel absorption.
• In 1983, the team linked LWS to a coat color spotting pattern, In 1997 Bowling was one of three researchers to identify the gene responsible for LWS, and in the process identified the condition as the equine version of Hirschsprung disease.
• E . g ., certain loss-of-function mutations in the RET gene, which encodes a receptor tyrosine kinase, can cause dominantly inherited failure of development of colonic ganglia, leading to defective colonic motility and severe chronic constipation ( Hirschsprung disease ).
• Accepted examples are piebaldism, Waardenburg syndrome, Hirschsprung disease, Ondine's curse ( congenital central hypoventilation syndrome ), pheochromocytoma, paraganglioma, Merkel cell carcinoma, multiple endocrine neoplasia, neurofibromatosis type I, CHARGE syndrome, familial dysautonomia, DiGeorge syndrome, Axenfeld-Rieger syndrome, Goldenhar syndrome ( a . k . a . hemifacial microsomia ), craniofrontonasal syndrome, congenital melanocytic nevus, melanoma, and certain congenital heart defects of the outflow tract, in particular.