Xiaoyu is 1.68 meters tall, but her weight is less than 60 kilograms. Her family once thought she was malnourished. In the past two years, accompanied by her mother, she has traveled to Chongqing, Chengdu, Beijing and other places for medical treatment. She has repeatedly visited the digestive, endocrine, gynecological and neurology departments of major third-class hospitals. She has carried out abdominal CT and gastroenteroscopy for many times and failed to find out the cause, Finally, he was diagnosed as a rare disease in Shanghai Tenth People’s Hospital: idiopathic total gastrointestinal motility disorder - chronic pseudo intestinal obstruction.

Xiaoyu, a 19-year-old girl, is 1.68 meters tall and weighs less than 60 kilograms. The pictures in this article are provided by Shanghai Tenth People’s hospital

In February 26th, www.thepaper.cn reported that Xiao Yu was a patient who came to see her in the hospital for more than six months. She incidence rate of this rare disease is only zero point two of one hundred thousand.

Xiaoyu introduced to the doctor: “some people say I’m anorexic, but I want to eat everything. I just can’t stand it when I eat it, and I’m getting thin like this.”

Xiaoyu’s backpack is full of enteral nutrition powder, digestive enzymes, motility promoting drugs, irritant laxatives, anti anxiety depression drugs, artificial cycles and other drugs she has taken in the past two years.

She once had a partial transverse colectomy in 2019. Before the operation, she still had nearly 90 kg, but after the operation, her stomach swelled more and couldn’t eat at all.

Li Ning, director of the Department of colorectal diseases of Shanghai Tenth People’s Hospital, said that at the beginning, the disease only showed poor appetite, postprandial abdominal distension and difficult defecation. As the disease progresses, intestinal motility will deteriorate further. At the same time, the angle of the patient’s superior mesenteric artery decreases, and the horizontal segment of the duodenum will be compressed. Once duodenal compression occurs, her original upper gastrointestinal emptying symptoms will deteriorate rapidly. At this time, if she mistakenly uses oral or gastric tube nutritional treatment, it will lead to frequent vomiting, which will aggravate the imbalance of water and electrolyte based on malnutrition, Patients will then fall into a vicious circle of “power disorder - malnutrition - intestinal microecological disorder”.

In view of Xiaoyu’s situation, Li Ning determined a multidisciplinary integrated treatment strategy with micro ecological treatment as the core.

The first step is to insert a small intestinal decompression tube to alleviate the symptoms of small intestinal obstruction such as severe abdominal pain and abdominal distension; The second step is to promote dynamic therapy, using a variety of dynamic drugs in combination; The third step is to treat the excessive proliferation of small intestinal bacteria, reduce the amount of small intestinal gas producing bacteria, improve the tolerance of enteral nutrition and promote the recovery of intestinal motility through periodic intestinal decontamination and flora transplantation.

After the above integrated treatment for 2 months, Xiaoyu’s weight has increased to 70 kg and her physical strength has improved significantly.

Up to now, the follow-up results after 6 months of treatment show that Xiaoyu’s symptoms of abdominal distension and abdominal pain are basically relieved. Xiaoyu said happily, “this summer, I want to eat our spicy crayfish from Chongqing.”

Xiaoyu (left) recently came to Shanghai Tenth People’s Hospital for follow-up observation.

“There are many difficulties in the diagnosis and treatment of rare diseases.” Li Ning admitted that there are three difficulties in the treatment of this rare disease at this stage. The first is the lack of clinical understanding and the difficulty of early diagnosis; Second, its pathophysiological process is doomed to require multidisciplinary integrated treatment of Gastroenterology and gastroenterology, nutrition department, intestinal microecology and transplantation department, and the effect of single discipline treatment is not good; Third, due to the lack of understanding of the disease, some treatment may also lead to unpredictable consequences.

Li Ning presented a study data. According to a cohort study of 59 patients published in 2005, the average diagnosis time of Pseudointestinal obstruction is up to 8 years, the average operation time of patients is 2.96 times, 88% of patients have undergone meaningless surgery, and 2 / 3 of patients have moderate and severe nutritional risk.

“Multidisciplinary participation will bring great help to the treatment of rare disease groups. After multidisciplinary integrated treatment, the prognosis of patients like Xiaoyu will also become better.” Li Ning said.