of the diseases associated with defects of transportation of minerals, highlight enteropathic acrodermatitis manifested by skin lesions, diarrhea and sometimes the appearance of fat in the feces, as well as hair loss.Skin lesions often in this pathology has the character of acute dermatitis, usually limited limbs and fields around the outer holes (mouth, anus, urethra opening).At the heart of this unusual combination of clinical signs of zinc deficiency is due to a violation of his absorption.
enteropathic acrodermatitis is inherited in an autosomal recessive manner.Sex ratio is about 1: 1, there were cases of consanguinity of parents.
Clinical symptoms usually appear at an early age, but not earlier than the end of breastfeeding.Human milk effectively removes already developed signs of disease in the child.If untreated, the disease takes a progressive course, the child is not gaining weight, there is increased susceptibility to fungal and bacterial infections, delayed sexual development, short stature
contains a substance that binds zinc in breast milk.This substance is absent in bovine milk.This difference can be explained by the appearance of clinical symptoms after weaning a child that does not have its own tsinkosvyazyvayuschee substance.the last function in humans is not clear whether it increases the absorption, transports zinc through the intestinal wall to the development of specific mechanisms or protects the zinc from other food components.
enteropathic akrodermatita Treatment is reduced to appointment of zinc supplementation on the background of a diet with a high content of this trace element, which makes the relatively favorable prognosis, mitigates the main clinical manifestations of the disease and the achievement of a majority of mature age.
Primary magnesium deficiency in the blood (gipomagnezismiya) is a genetically determined pathology with an autosomal recessive mode of inheritance.Besides, it is not excluded concatenated with X-linked inheritance of the disease.
The disease manifests in early childhood seizures and (or) recurring muscle spasms due to a lack of blood calcium and magnesium.Numerous studies have shown that magnesium deficiency is associated with a primary violation of his absorption in the small intestine.Other bowel function in this disease has not changed.Pathology first appears in a child a few weeks and is characterized by generalized convulsions and decreased muscle tone.Some children reveal low blood protein content and peripheral edema due to concomitant protein-losing bowel disease.The symptoms disappear after administration of large doses of magnesium, whose intake should continue indefinitely.
Menkes disease (kinky hair syndrome) is inherited in a recessive type.The disease is caused by malabsorption of copper in the intestine, as a result of which there is a pronounced deficiency of this metal in the body.Absorption copper intestinal mucosa cells is not broken, consequently, defect relates to systems for copper transport in the body.Pathological changes in the disease are found in the X-chromosome.
As with many diseases that manifest in the neonatal period, the early symptoms of the disease Menkes relatively nonspecific.Sick children - it is usually premature boys, slow and sluggish sucking the mother's breast, suffering drops in body temperature.About a month increases drowsiness, feeding becomes even more difficult, develop convulsions on the background of decreased or increased muscle tone.Then progressing neurological disorders, seizures become more frequent, often observed pneumonia and sepsis.These children are peculiar to certain features of the face: swollen cheeks, the upper lip is in the form of a bow of Cupid and bent at an angle of the eyebrows.Characteristic changes in the hair, which gave the name to this violation, include "faded" color, brittle, leading to the formation of bristles, imitating or steel curly hair (hair is twisted around its axis).For the correct diagnosis is necessary to determine the levels of copper and serum tserruloplazmina even in the absence of typical hair changes.Intravenous administration of copper with Menkes disease eliminates its deficit under the condition early treatment in later stages therapy is usually unsuccessful.