The variable immunodeficiency (VIEW) with dominance of insufficiency of immunoglobulins (the term is offered WHO in 1978) — the rare disease inherited on autosomal recessively or dominant type is characterized by decrease in blood of level of all classes of immunoglobulins; approximately at a half of patients reveal also disorders of cellular immunity.
Epidemiology Frequency makes the LOOK 4:1000 000 for men and 15:1 000 000 for women. The syndrome of the broken absorption occurs at 36 — 95% of patients the LOOK. More often it is characterized by constant diarrhea, big deficit of body weight develops less often, gipoproteinemichesky hypostases, anemia, a hypocalcemia and osteomalacy develop.
Etiology and pathogeny The reasons the LOOK are not known. Decrease in blood of level of immunoglobulins of all classes, especially IgG is the main immunological sign of a disease. The quantity of the V-lymphocytes circulating in blood normal or is reduced, but they are not capable to produce immunoglobulins. Defect of T lymphocytes is connected with increase of activity of T-suppressors.
The lambliasis which is found in 33 — 100% of patients with this disease is the most frequent cause of infringement of absorption in intestines at the LOOK. Emergence it is connected with sharp reduction of products of secretory immunoglobulins. Lyambliya injure a mucous membrane of a small bowel in places of implementation, break contact of a chyme with an intestinal wall. Sharply planting by microbic flora of upper parts of a small bowel increases. The quantity of bacteria in 1 ml of eyunalny contents reaches 107. At histologic research of biopsy material find a large number of microbes in an intestinal wall.
Disturbance of absorption at the LOOK results also from the mucosal atrophy observed at some patients. In these cases an illness call "hypogamma globulinemic a spra". The only difference from a Gee's disease is almost total absence in a stroma mucous plasmocytes. They are substituted with small lymphocytes and eosinophils. As well as at a Gee's disease, at patients hypogamma globulinemic to a spr the intolerance of gluten develops. At 17 — 70% of patients the LOOK, according to different authors, comes to light a nodular lymphoid hyperplasia.
Classification According to the WHO classification distinguish 3 main forms of immune insufficiency:
1) the T combined with defeat - and V-systems of immunity; 2) preferential insufficiency of cellular (T) immunity; 3) disturbance of products of antibodies (V-system of immunity). The LOOK is one of subgroups of the third form of immune insufficiency.
At the formulation of the diagnosis it is necessary to specify: a) an immunodeficiency form (the general or the selection, with dominance of insufficiency of immunoglobulins of this or that class); b) nature of defeat of a small bowel (morphological characteristic, existence of a lymphoid hyperplasia, hypogamma globulinemic to a spr); c) severity of a syndrome of the broken absorption; d) existence of parasitic diseases (lambliasis, etc.); e) the accompanying diseases of digestive organs and the centers of an infection.
Approximate formulation of the diagnosis: 1. The general variable immunodeficiency with dominance of insufficiency of immunoglobulins of all classes with the expressed diffusion lymphoid hyperplasia of a small bowel. A syndrome of the broken absorption of the III degree with a proteinaceous, electrolytic and vitamin deficiency. Iron deficiency anemia, cachexia. Lambliasis. Fatty dystrophy of a liver. 2. The general variable immunodeficiency with dominance of insufficiency of IgA. Hypogamma globulinemic to a spr. A syndrome of the broken absorption of the III degree with disturbance of a protein, vitamin and water and electrolytic metabolism. Osteoporosis. Gipoproteinemichesky hypostases. B12-scarce anemia, cachexia.
Preliminary diagnosis Among primary immunodeficiences of dysfunction of intestines most often occur at patients about the VIEW with dominance of insufficiency of immunoglobulins or dominance of deficit T-limfotsitov-helperov. In a clinical picture of an illness symptoms of heavy disturbance of absorption, sometimes with a syndrome of a hyper catabolic exudative enteropathy, and also chronic infectious processes (repeated pneumonia, otitises, sinusitis etc.) dominate. The main diagnostic method the LOOK — determination of concentration of immunoglobulins. The maintenance of IgG is constantly reduced, at the majority also the IgA and IgM level is reduced. Deficit T-helperov can be defined.
At endoscopic and X-ray inspection of a small bowel often reveal sites of a nodular lymphoid hyperplasia. Small knots can have the sizes from prosyany grain to 3 — 5 mm. At significant increase in small knots pristupoobrazny abdominal pains owing to partial intestinal obstruction or incidental invagination can sometimes appear.
Verification of the diagnosis, differential diagnosis The histologic picture of a mucous membrane of a small bowel is characterized by absence or sharp reduction in a stroma of quantity of plasmocytes, accumulations of lymphocytes in the form of follicles. Height vorsin is significantly not reduced. Find lyambliya in many patients. In case of identification of an atrophy vorsin it is about hypogamma globulinemic to a spr — a combination the VIEW with a Gee's disease.
In each case the LOOK it is necessary to exclude AIDS, and also to carry out the differential diagnosis with a lymphoma of a small bowel of the Mediterranean type, or an illness of heavy chains (and - chains) as at it decrease in level of serumal immunoglobulins and a heavy syndrome of a hyper catabolic exudative enteropathy are also observed. The main distinctive features are data of histologic research of a bioptat of a mucous membrane of a small bowel. Unlike the LOOK at a lymphoma and an illness of heavy chains cellular infiltrate is provided by lymphocytes of different degree of plasmatization and plasmocytes. Infiltrate spreads to a muscular layer.
At immunochemical research of blood serum reveal defective IgA and and - chains, IgA defined by monospecific antiserum to IgA.
Treatment and prevention The patient the VIEW with a syndrome of the broken absorption without mucosal atrophy of a small bowel appoint a diet No. 4 — 4v and carry out treatment of chronic diarrhea with correction of metabolic disturbances (see. Chronic enteritis). Besides, appoint repeated courses of antibacterial therapy, carry out treatment of the accompanying inflammatory diseases of other bodies. Practically all patient appoint lambliasis repeated courses of treatment (metronidazole in a dose of 250 mg 3 times a day, a course of treatment of 5 — 10 days; in the absence of effect Tinidazolum in a single dose of 2 g once, then Trichopolum of 0,25 g 2 times a day within 5 days is recommended).
Patients the LOOK have to receive during all life replaceable treatment by gamma-globulin on 25 mg/kg weekly or 100 mg/kg monthly in the form of intramuscular injections. If this therapy does not prevent development of repeated bacterial infections, it is necessary to increase a dose of drug to 50 mg/kg weekly. The good replaceable effect gives also administration of freshly frozen plasma on 10 — 20 mg/kg intravenously with an interval of 2 — 4 weeks.
If the mucosal atrophy is found in the patient the LOOK, i.e. is established hypogamma globulinemic to a spr, then treatment is carried out against an aglyutenovy diet. At the heavy diarrhea which is not giving in to treatment by a diet and antibacterial drugs to the patient appoint corticosteroid drugs. For example, Prednisolonum in a dose of 40 mg with its gradual cancellation within 10 months.
Patients the LOOK are disabled or restrictedly are able-bodied, need the guarding mode providing the prevention of infectious diseases.