Eat small | "liver glycogen storage disease" to think

Lin Lin (a pseudonym) 1 years old half, after birth, the appetite is good, what to eat, never picky eaters! Crying, to eat to coax the! Gran


Lin Lin (a pseudonym) 1 years old half, after birth, the appetite is good, what to eat, never picky eaters! Crying, to eat to coax the! Grandma always praised him as a good boy! But with Lin Lin grandmother grew up is more and more worry: the children to eat so many things, in addition to growing belly, body weight and height are not up to the standard. And because of the stomach, the child's activities have been affected. Go to the hospital to check in addition to ultrasound tip "liver", the other did not find any abnormalities. "My grandson exactly what is the disease?" And one to three affiliated hospital Gastroenterology, grandma asked eagerly to consult the doctor. After a detailed history, after giving the necessary examination, Lin Lin's disease initially diagnosed as hepatic glycogen storage disease". The doctors in the digestive department immediately gave him a "unique" treatment: a diet based treatment! Treatment: after Lin Lin reduced food intake, weight gain! Zheng Dasan got the gene diagnosis report Fuyuan grandma finally know: Lin Lin was glycogen storage disease type Ia!!! The Affiliated Hospital of pediatric gastroenterology director Wang Yumei Zheng Dasan said: glycogen storage disease (glycogen storage, disease, GSD) is a rare, because glycogen metabolic disease caused by congenital defect. According to the defects of different enzymes, divided into 12 types, including IX type for X linked recessive inheritance, the rest belong to autosomal recessive inheritance. Glycogen storage disease is a common type of glycogen storage disease. Ia is the most common type of glycogen storage disease, caused by hepatic glucose -6- phosphatase deficiency. Glycogen storage disease type Ia clinical manifestations of varying severity: severe neonatal period can appear severe hypoglycemia and acidosis, dyspnea and symptoms of mild hepatomegaly; in the infant period due to growth retardation, abdominal distension and other treatment. Children can have hepatomegaly, hypoglycemia, stool frequency, short stature, bone age backward, osteoporosis, muscle relaxation, but the proportion of each part of the body and the intelligence development of normal. Blood biochemical changes can be hypoglycemia, lactic acidosis, high uric acid, high blood lipids and abnormal liver function. Preliminary clinical diagnosis in general according to the history, signs and blood biochemical detection can make the hepatic glycogen storage disease. Stimulation test can diagnosis test, glucagon Susu oral glucose, liver biopsy can make pathological diagnosis. However, accurate genotyping is required for gene diagnosis. The treatment goal of glycogen storage disease is to maintain normal blood glucose, various metabolic disorders and the occurrence of hypoglycemia inhibit secondary complications. Diet therapy is an important method in the treatment of this disease, the clinical use of many small carbohydrate food during the day, night use nasal drip with glucose, blood glucose level of 4 ~ 5mmol/L. 1 years old after the use of raw corn starch treatment, every 4 to 6 hours 1 times, each time 1.75~2.0g / kg, while adding a variety of trace elements and minerals. Since the application of the diet therapy since most hepatic glycogen storage disease in children with normal growth and development. Although there are some patients after the cessation of treatment and no symptoms of hypoglycemia, but there is still a need for more long-term follow-up. The birth of need for prenatal diagnosis of liver glycogen storage disease, can do fetal liver biopsy in 18~22 gestational weeks, glucose -6- phosphatase activity assay.

The Affiliated Hospital of Pediatric Gastroenterology, diagnosis and treatment of Zheng Dasan mainly jaundice, liver damage, diarrhea (acute, persistent and chronic), vomiting, hematemesis, hematochezia, wheezing (food allergy, gastroesophageal reflux disease)!

Address: Henan Zhengzhou District 27 7 St. Zheng Dasan rehabilitation hospital

(train station square west street rehabilitation or rehabilitation Street 400 meters West)

Tel: 0371-66903336,


WeChat public number: sfyxexh

Bus routes: from the train station by 4 road, 109 Road, 108 road to the Central Plains along the street and get off at the junction of Beijing Guangzhou, rehabilitation to go south 150 meters west. From the train station on the west square by 201 Road, 217 road to the rehabilitation of street traffic intersection is to get off.

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