Hirschsprung's Disease, Causes, Signs and Symptoms, Diagnosis and Treatment. скачать в хорошем качестве

Hirschsprung's Disease, Causes, Signs and Symptoms, Diagnosis and Treatment.

. Chapters 0:00 Introduction 1:12 Causes of Hirschsprung's disease 2:40 Symptoms of Hirschsprung's disease 3:27 Diagnosis of Hirschsprung's disease 4:11 Treatment of Hirschsprung's disease Hirschsprung's disease (HD or HSCR) is a birth defect in which nerves are missing from parts of the intestine.[1][3] The most prominent symptom is constipation.[1] Other symptoms may include vomiting, abdominal pain, diarrhea and slow growth.[1] Symptoms usually become apparent in the first two months of life.[1] Complications may include enterocolitis, megacolon, bowel obstruction and intestinal perforation.[1][2] The disorder may occur by itself or in association with other genetic disorders such as Down syndrome or Waardenburg syndrome.[1][2] About half of isolated cases are linked to a specific genetic mutation, and about 20% occur within families.[1] Some of these occur in an autosomal dominant manner.[1] The cause of the remaining cases is unclear.[1] If otherwise normal parents have one child with the condition, the next child has a 4% risk of being affected.[2] The condition is divided into two main types, short-segment and long-segment, depending on how much of the bowel is affected.[1] Rarely, the small bowel may be affected, as well.[2] Diagnosis is based on symptoms and confirmed by biopsy.[3] Treatment is generally by surgery to remove the affected section of bowel.[2] The surgical procedure most often carried out is known as a "pull through".[3] Occasionally, an intestinal transplantation may be recommended.[2] Hirschsprung's disease occurs in about one in 5,000 of newborns.[1] Males are more often affected than females.[1] The condition is believed to have first been described in 1691 by Dutch anatomist Frederik Ruysch[4] and is named after Danish physician Harald Hirschsprung following his description in 1888.[5][6]