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Diseases of children (pediatrics)

Vitamin B12 malabsorption: causes, symptoms, diagnosis, treatment

Symptoms of malabsorption of vitamin B12 develops from the first months of the child's life. They note weakness, pallor, delay in physical development, diarrhea. After 6-30 months after the onset of the first symptoms, neurological disorders are noted: mental retardation, neuropathy, myelopathy.

Congenital malabsorption of folic acid: causes, symptoms, diagnosis, treatment

Congenital malabsorption of folic acid is a rare disease that is inherited in an autosomal recessive type. The transport of folic acid is disrupted not only in the intestine, but also the penetration of the microelement into the cerebrospinal fluid is impeded.

Enteropathic acrodermatitis (Dunbolt-Kloss disease)

Enteropathic acrodermatitis - a disease associated with a violation of zinc absorption, inherited in an autosomal recessive type. As a result of a defect in the proximal parts of the small intestine, the formation of more than 200 enzymes is disrupted.

Menkes disease: causes, symptoms, diagnosis, treatment

The group of diseases associated with the deficiency of copper transport channels includes classical Menkes disease (swollen or steel hair disease), mild variant of Menkes disease, occipital horn syndrome (X-linked flaccid skin, Ehlers-Danlo syndrome, IX type).

Lipoprotein B synthesis disorders: causes, symptoms, diagnosis, treatment

Lipoprotein B is necessary for the formation of chylomicrons, low and very low density lipoproteins, a transport form of lipids upon admission from enterocyte to lymph.

Malabsorption of glucose-galactose: causes, symptoms, diagnosis, treatment

Malabsorption of glucose-galactose is a disease inherited by an autosomal recessive type associated with the pathology of the glucose transport protein and galactose. There are mutations in the chromosome of the 22 gene that encodes the protein. With this disease in the intestine, the absorption of monosaccharides is impaired, which provokes osmotic diarrhea, which quickly leads to dehydration. Perhaps a violation of the reabsorption of glucose in the tubules of the kidneys. Absorption of fructose is not impaired.

Insufficiency of duodenase, enteropeptidase (enterokinase)

The congenital deficiency of enterokinase is described, as well as transient insufficiency of the enzyme in deeply premature infants. Due to the deficiency of enterokinase, the translation of trypsinogen into trypsin is disrupted, as a result - the splitting of the protein in the small intestine. With duodenal pathology, a deficiency of duodenase, leading to peptidase deficiency, is also possible.

Deficiency of sucrose-isomaltase

Three phenotypes of congenital enzyme deficiency are described, caused by mutations of the gene controlling the synthesis of the enzyme complex. Published data on the localization of this gene in the chromosome 3.

Lactase insufficiency in children

Lactase insufficiency is a disease that provokes the emergence of malabsorption syndrome (watery diarrhea) and is caused by a breakdown in the breakdown of lactose in the small intestine.

Malabsorption (malabsorption syndrome)

Malabsorption (malabsorption syndrome, syndrome of impaired intestinal absorption, chronic diarrhea syndrome, sprue) - inadequate absorption of nutrients due to disruption of digestion, absorption or transport processes.

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