The 10 -year -old boy is nearly 200 pounds, and there is a kind of obesity to be fatal

*For medical professionals for reading reference

Prader-WILLI syndrome Example

The ward was admitted to an obese 10 -year -old boy yesterday. The obese children are different from other obese children. When you see the child at first glance, you can't help staring at him (although not polite), because this suffering The child is special!

Height is 135cm, weighs 98kg, the weight index is 53.77kg/m2 (weight index BMI = square -weight/height square), and the abdominal obesity is serious.

Photos when admitted to the hospital on the first day of the child

Today, the child's breathing difficulty is aggravated. The blood oxygen is maintained at 60%to 70%under oxygen absorbing conditions.

Example

Male, 10 years old. The reason for admission is 13 days of sleep and weakness with weakness.

The daily sleep time is about 20 hours. There is no activity. You can suddenly enter sleep during eating.

Accompanied by fatigue, double limbs have difficulty standing, difficulty breathing, shortness of breath, sleep cannot be lying flat, and toilet cannot squat, low intelligence.

The skin tone is pale, the corners of the mouth are drooping, the small hands and the feet are swollen, the back of the hand is cone -shaped, the figure is short, and the abdominal obesity is obvious.

There must be some special problems to lead to this situation. After questioning the medical history, 19 days after the child was born, he was hospitalized for "feeding difficulties and low muscle tension". At the age of 4, he was diagnosed at Beijing Children's Hospital and was diagnosed with Prader Willi syndrome.

When it comes to Prader Willi syndrome, all symptoms can be explained. Because the symptoms of this child are too typical.

So what is Prader Willi syndrome?

Prader-Willi syndrome (PWS), also known as low muscle tension-intelligent barrier-gonad development-obesity syndrome, Prod-Willie syndrome, he also has a more vivid name: Fatty Willie Syndrome.

PWS was reported by Prader in 1956. It was the earliest genetic disease that was proven to be genomic marks.

The incidence of different people abroad is about 1/30 000 to 1/10 000, and my country lacks epidemiological information. PWS is one of the important causes of symptomatic morbidity and obesity. Early diagnosis and reasonable intervention are essential for improving the quality of life of children, preventing severe complications and extended life.

Prader-Willi syndrome (PWS) diagnosis

Chinese PWS children have decreased during the fetal period, and the newborn period has low muscle tension and difficulty in infant feeding (Table 1).

The child's weight index is 53.77kg/m2, the weight index is greater than 24.0kg/m2 as overweight, and the weight index is greater than equal to 28kg/m2 as obesity. The child is obviously too much, which seriously affects the quality of life and life, and the child is accompanied by obvious liver damage and heart failure, and there is danger at any time.

The US Prevention Medical Working Group Statement suggests: clinicians should recommend enhanced behavioral intervention measures to adults with obesity (weight index of 30kg/m2).

Prader-Willi syndrome (PWS) cause

PWS is the functional defect of the printed gene of the Pichaphic chromosome 15Q11.2 ~ Q13.

The main genetic types of PWS include:

1. Father Yuan chromosome 15Q11.2 ~ Q13 is missing (65%~ 75%of Western PWS patients), including missing type I T1D (BP1 ~ BP3), missing Type II T2D (BP2 ～ BP3); Chinese and Asian people should be the crowd of Chinese and Asian people. The proportion of the type is slightly higher than 80%, which is higher than the Western population.

2. Maternal Uni-Parental Disomy (UPD) causes deletion of parent source genes in the 15Q11.2 ~ Q13 region (accounting for 20%to 30%).

3. Micro lack of and mutations in the mark center (1%to 3%).

A very few children with PWS (<1%) have a balanced position due to a balanced balancing, although the promoter and coding sequence and transcriptional activity of the SNURF-SNRPN gene are retained, the child is still a typical manifestation of PWS. It has been reported that the lack of SNORNA gene cluster Snord 116 expressed by Father Yuan may be closely related to PWS's phenotypes.

Prader-Willi syndrome (PWS) treatment

The treatment of PWS should adopt a comprehensive management model including endocrine genetic metabolism, rehabilitation therapy, psychology, nutrition, newborn, ophthalmology, orthopedics, surgery, etc. Early diet therapy and long -term nutritional monitoring are extremely important.

Treatment needs to be effectively intervened according to different endocrine metabolic disorders and related issues according to the table type characteristics of children with different ages.

For age, foods are strictly managed, including strict control of diet, and even locking food storage. Formulate a three -meal plan. Before the next meal time, the food is not allowed to be planned to the child.

For diet, there is no drug that can help control appetite. There have been studies and application of oorus peptide (growth of ingensin analogs) attempting to reduce the level of gastric hunger, but the results failed to change their dietary behavior.

Whether the stomach reducing surgery can be used for PWS still controversy. Some reports can not change the child's satiety or improve excessive feeding behavior after the operation, and the incidence of complications of surgery is high.According to my country's current national conditions, this operation is not recommended for conventional treatment.The most important thing for the treatment of Prader-Willi syndrome (PWS) is to control weight. Because the child has no obvious sense of fullness, it will cause gastric rupture perforation in severe cases.If the child needs to eat strongly, the family must obey the doctor's order and lock the food in the cabinet to control the child's excessive eating behavior.Controlling weight is equivalent to increasing children's life.Because children are often accompanied by intelligence, and there are currently no effective measures to find in the palace in advance, it is important to improve the quality of life and extend the life expectancy of children.

references:

China Prader-Willi syndrome diagnosis and treatment expert consensus (2015)

This article is the first: pediatric channel in the medical community

Author of this article: Wang Yuping

Editor in charge: Xiang Yu

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