CONGENITAL ENZIMOPATHY AND EXUDATIVE ENTEROPATHY

The most common congenital gastrointestinal enzimopatii - celiac disease and the lack
disaharidaz.

Pathogenesis and clinical picture

Celiac

Gluten enteropathy - congenital disorder caused by deficiency of enzymes break down the gluten
(protein cereal) to amino acids, and accumulation in the body of toxic products of its partial
hydrolysis. The disease manifests itself more frequently since the introduction of complementary
foods (semolina and oat cereals) in the form of abundant foam chair. Then join ano-rex,
vomiting, symptoms of dehydration, a false picture of ascites. Develop severe dystrophy.

When X-rays of the intestine with the addition of flour to the barium suspension observe sharp
hypersecretion, accelerated peristalsis, changes in intestinal tone and relief of the mucous
membrane (a symptom of "snow storm").

Disaccharidase deficiency

In infants it is more often the primary, due to genetic defect (p) the synthesis of enzymes that
break down lactose and sucrose. In this case, lactose intolerance is manifested by diarrhea after
the first breastfeeding, intolerance to sucrose - since the introduction of a child's ration of sugar
(sugar water, lactation aid). Characteristic flatulence, watery with a sour smell, the gradual
development of persistent malnutrition. Chair, usually quickly returning to normal after
elimination of the disaccharide.

Syndrome exudative enteropathy

The syndrome is characterized by loss of a large number of plasma proteins of blood through the
intestinal wall. As a result, children develop persistent gipoprotei-nemiya, there is a tendency to
swelling.Primary exudative enteropathy syndrome associated with congenital defect of the
lymphatic vessels of the intestinal wall with the development of lymphangiectasia, revealed by
morphological study. Secondary exudative enteropathy syndrome observed in celiac disease,
cystic fibrosis, Crohn's disease, ulcerative colitis, liver cirrhosis and some other diseases.

DIAGNOSIS

Diagnosis is based on the totality of clinical and laboratory data, the results of endoscopic and
morphological studies. Used in the diagnosis of exercise tests (eg, test d-xylose absorption, etc.),
immunological methods (determination gliadinovyh AT, etc.), as well as methods for
determining protein, carbohydrates, lipids in the feces and blood.
DIFFERENTIAL DIAGNOSIS

In the differential diagnosis is important to take into account the patient's age, in which the first
symptoms of the disease.

In the neonatal period manifest congenital lactase deficiency (alaktaziya), congenital

glucose-galaktoznaya malabsorption, congenital deficiency of enterokinase, intolerance to cow's
milk protein, soy, etc.

At the age of 1 month to 2 years reveal an innate lack of Sakha-times, izomaltazy, secondary
disaccharidase deficiency, congenital lipase deficiency, celiac disease, malabsorption of amino
acids, parasitic diseases, food allergies, immunodeficiencies, etc.

TREATMENT

Crucial organization of individual clinical nutrition, in particular the appointment

Eliminatsionnye diets depending on the period of illness, the general condition and age of the
patient, the nature of the enzyme deficiency. In celiac disease should be gluten-free diet (exclude
foods rich in gluten - rye, wheat, barley, oat cereals) with the restriction of milk. When
disaccharidase deficiency is necessary to exclude the use of sugar, starch or milk (for lactose
intolerance). In exudative enteropathy prescribe a diet rich in protein, with reduced fat (use
srednetsepochechnye triglitseri-dy). According to testimony, in severe cases, prescribe parenteral
nutrition. Showing enzymes, probiotics, vitamins, symptomatic therapy.

FORECAST

Weather in Eliminatsionnye strict diet and rigorous prevention of relapse in patients with celiac
disease and some enteropathy-mi generally favorable, with exudative enteropathy can only
achieve clinical remission.