Congenital lactase deficiency

Introduction Congenital lactase deficiency: babies vomit soon after eating breast milk or milk, can not grow, dehydration, acidosis, lactoseuria and amino aciduria, serious condition, poor prognosis. This disease, also known as disaccharid intolerance, refers to various congenital or acquired diseases, which makes the intestinal mucosal brush-like disaccharidase deficiency, which causes the digestive and absorption of disaccharide to be disordered. When eating foods containing disaccharide A series of symptoms and signs that occur. Divided into primary and secondary disaccharidase deficiency, including lactase, sucrase, maltase, trehalase and other lack, lactase deficiency is the most common. Lactase deficiency is also known as lactose intolerance or lactose malabsorption. Lactase can break down lactose into galactose and glucose. Due to the lack of lactase, the patient has only a slight disaccharide absorption after eating lactose, and the rest enter the lower part of the small intestine. The bacteria in the intestinal cavity ferment the disaccharide to produce organic acids such as lactic acid and carbon dioxide and nitrogen. The unabsorbed disaccharide increases the osmotic pressure in the intestinal lumen, and the intestinal water absorption decreases to cause diarrhea. The action of organic acids on the intestines causes the discharge of acidic feces, which causes bloating and bowel due to excessive gas production.

Cause

Congenital lactase deficiency: This is a malfunction of the production of lactase due to genetic dysfunction. This innate condition can be diagnosed shortly after birth. Lactase deficiency is a normal phenomenon. It is generally thought to be related to genetic mutations caused by different dietary habits. Asians and Chinese people have a high incidence.

an examination

Related inspection

Urine lactose serum lactose

Congenital lactase deficiency is more familial, with diarrhea-based symptoms 1 to 2 hours after breastfeeding, accompanied by abdominal distension. Hydrogen breath test is commonly used to detect lactase deficiency, which is the easiest, sensitive, reliable, and non-invasive method. However, it should be noted that overgrowth of small intestinal bacteria can produce false positives, and taking a large amount of antibiotics can cause false negatives. In addition, sleep, smoking, mood and pre-test diets will affect the test results.

Differential diagnosis

Differential diagnosis of congenital lactase deficiency:

1. Congenital lactose intolerance: This is a disease that is different from congenital lactase deficiency and belongs to autosomal dominant inheritance. After starting feeding, there was fulminant diarrhea, acidy stool with watery vesicles, and diarrhea. Can cause vomiting, dehydration, renal tubular acidosis, disaccharide, amino aciduria, cataract, liver and brain damage, such as diagnosis can cause death. The diarrhea disappeared after stopping the feeding, and there was no lactoseuria or amino aciduria.

2, adult acquired lactose intolerance: after taking milk can cause watery acidity with abdominal distension, abdominal discomfort.

3, sucrose-isomalt malabsorption: is caused by the lack of sucrose -dextrin enzyme, because the unabsorbed sucrose in the intestinal lumen caused excessive osmotic pressure and fermented diarrhea. The feces can be acidic, the pH of the feces can reach 4.0 to 5.0, there is sour taste, the amount is too much, the baby has severe diarrhea, and the adult has only stomach discomfort. Symptoms can occur after eating sweets and fruits. It is said that Eskimos have more people with this disease. It accounts for about 10% of the population, but it is generally asymptomatic.

4, trehalase deficiency: trehalase deficiency (trehalase deficiency) is less common, the patient suffers from abdominal pain, diarrhea, flatulence and vomiting after eating mites. The stool is often watery. The mushroom contains trehalose, which is a kind of 1,-glucose-1--glucoside. The diarrhea lasts only for a few hours, and the fasting of the mushroom no longer occurs.

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