Amiloidoz – the general, system disease of an organism at which there is an adjournment of a specific glikoproteid (amiloid) in bodies and fabrics to malfunction of the last. At an amiloidoza kidneys (a nephrotic syndrome, an edematous syndrome), heart (heart failure, arrhythmias), a GIT, the musculoskeletal device, skin can be surprised. Development of a poliserozit, hemorrhagic syndrome, mental violations is possible. Reliable diagnostics of an amiloidoz is promoted by detection of an amiloid in biopsiyny samples of the struck fabrics. For treatment of an amiloidoz immunosuppressive and symptomatic therapy is carried out; according to indications - peritonealny dialysis, transplantation of kidneys and a liver.
Amiloidoz – the disease from group of system disproteinoz proceeding with education and accumulation in fabrics difficult proteinaceous connections - an amiloida. Prevalence of an amiloidoz in the world is considerably geographically determined: so, the periodic disease meets in the countries of the Mediterranean Basin more often; an amyloid polyneuropathy – in Japan, Italy, Sweden, Portugal etc. Average frequency of an amiloidoz in population makes 1 case on 50 thousand population. The disease usually develops at persons 50-60 years are more senior. Considering the fact that at an amiloidoza practically all systems of bodies are surprised, the disease is studied by various medical disciplines: rheumatology, urology, cardiology, gastroenterology, neurology, etc.
Reasons of an amiloidoz
Questions of an etiology of primary amiloidoz are up to the end not studied. At the same time, it is known what secondary usually is associated with chronic infectious (tuberculosis, syphilis, actinomycosis) and pyoinflammatory diseases (osteomyelitis, a bronkhoektatichesky disease, a bacterial endocarditis, etc.), is more rare - tumoral processes (limfogranulematozy, a leukosis, cancer of visceral bodies). Jet can develop at patients with atherosclerosis, psoriasis, a revmopatologiya (rheumatoid arthritis, Bekhterev's disease), a chronic inflammation (nonspecific ulcer colitis, a disease Krone), multisystem defeats (Whipple's disease, sarkoidozy). Among the factors promoting development of an amiloidoz, a giperglobulinemiya, violations of functioning of cellular immunity, genetic predisposition, etc. have paramount value.
Among numerous versions of an amiloidogenez the theory of a disproteinoz, local cellular genesis, immunological and mutational theories have the greatest number of supporters. The theory of local cellular genesis considers only the processes happening at the cellular level (education of fibrillyarny predecessors of an amiloid system of macrophages) while education and accumulation of an amiloid happens out of a cage. Therefore the theory of local cellular genesis cannot be considered as exhaustive.
According to the theory of a disproteinoz, is a product of abnormal proteinaceous exchange. The main links of pathogenesis of an amiloidoz - a disproteinemiya and a giperfibrinogenemiya promote accumulation in plasma of grubodispersny fractions of protein and paraproteins. The immunological theory of an origin of an amiloidoz connects formation of an amiloid with reaction an anti-gene antibody in which alien proteins or products of disintegration of own fabrics act as anti-genes. At the same time adjournment of an amiloid happens mainly in places of formation of antibodies and surplus of anti-genes. The most universal is the mutational theory of an amiloidoz considering a huge variety of the mutagen factors having an opportunity to cause abnormal synthesis of protein.
Amiloid represents difficult , consisting of the fibrillyarny and globulyarny proteins which are closely connected with polysaccharides. Amyloid deposits collect in intim and an adventition of blood vessels, Strom of parenchymatous bodies, ferruterous structures etc. At insignificant deposits of an amiloid of change come to light only at the microscopic level and do not lead to functional violations. The expressed congestion of an amiloid is followed by macroscopic changes of the struck body (increase in volume, a grease or wax look). In the outcome of an amiloidoz the sclerosis of a stroma and an atrophy of a parenchyma of bodies, their clinically significant functional insufficiency develops.
According to the reasons distinguish primary (idiopathic), secondary (jet, acquired), hereditary (family, genetic) and senile . Meets various forms of a hereditary amiloidoz: the Mediterranean fever, or a periodic disease (attacks of heat, belly-ache, a lock, diarrhea, pleurisy, arthritis, rashes on skin), Portuguese neyropatichesky (peripheral polyneuropathy, impotence, violations of warm conductivity), the Finnish type (a cornea atrophy, a kranialny neuropathy), the Danish option (kardiopaticheskiya ) and . other.
Depending on primary defeat of bodies and systems allocate nefropaticheskiya ( kidneys), kardiopaticheskiya ( hearts), neyropaticheskiya ( nervous system), gepatopaticheskiya ( to a liver), epinefropaticheskiya ( adrenal glands), APUD-amiloidoz, skin and the mixed disease type. Besides, in the international practice it is accepted to distinguish local and generalized (system) . To the localized forms, as a rule, developing at persons of senile age, belong at Alzheimer's disease, diabetes of the 2nd type, endocrine tumors, tumors of skin, bladder, etc. Depending on biochemical composition of amyloid fibrilla distinguish the following types from system forms of an amiloidoz:
- AL - as a part of fibrilla easy chains of Ig (at Valdenstrem's disease, a miyelomny disease, malignant lymphoma);
- AA – as a part of fibrilla ostrofazny serumal α-globulin, similar according to the characteristics with S-jet protein (at tumoral and rheumatic diseases, a periodic disease, etc.);
- Aβ2-as a part of fibrilla β2- (at a chronic renal failure at the patients who are on a hemodialysis);
- ATTR – as a part of fibrilla transport protein (at family hereditary and senile forms of an amiloidoz).
Symptoms of an amiloidoz
Clinical manifestations of an amiloidoz differ in variety and depend on expressiveness and localization of amyloid deposits, biochemical structure of an amiloid, "experience" of a disease, extent of malfunction of bodies. In a latent stage of an amiloidoz when deposits of an amiloid can be found only microscopically, the symptomatology is absent. In process of development and progressing of functional insufficiency of this or that body clinical symptoms of a disease accrue.
At an amiloidoza of kidneys it is long the current stage of a moderate proteinuria is replaced by development of a nephrotic syndrome. Transition to the developed stage can be connected with the postponed interkurrentny infection, vaccination, overcooling, an exacerbation of the main disease. Gradually hypostases accrue (at first standing, and then on all body), nefrogenny arterial hypertension and a renal failure develops. Developing of thrombosis of renal veins is possible. Massive loss of protein is followed by a gipoproteinemiya, giperfibrinogenemiy, giperlipidemiy, azotemiy. In urine the makrogematuriya, a leykotsituriya is found micro, sometimes. In general during an amiloidoz of kidneys allocate an early bezotechny stage, an edematous stage, an uraemic (kakhektichesky) stage.
Amiloidoz of heart proceeds as a restrictive cardiomyopathy with typical clinical signs – a kardiomegaliya, arrhythmia, the progressing heart failure. Patients complain of short wind, hypostases, the weakness arising at insignificant physical activities. Less often at an amiloidoza of heart develops poliserozit (ascites, ekssudativny pleurisy and perikardit).
Damage of a GIT at an amiloidoza is characterized by amyloid infiltration of language (makroglassiya), a gullet (a rigidnost and violation of a vermicular movement), a stomach (heartburn, nausea), intestines (locks, diarrhea, a malabsorption syndrome, intestinal impassability). Developing of gastrointestinal bleedings at various levels is possible. At amyloid infiltration of a liver the gepatomegaliya, , portal hypertensia develops. Damage of a pancreas at an amiloidoza usually masks under chronic pancreatitis.
Amiloidoz of skin proceeds with the advent of multiple wax-like plaques (papules, small knots) in a face, a neck, natural skin folds. On external signs damage of skin can remind a sklerodermiya, neurodermatitis or red flat deprive. Development of symmetric polyarthritis, a carpal tunnel syndrome, plechelopatochny periartrit, myopathy is typical for amyloid defeat of the musculoskeletal device. The separate forms of an amiloidoz proceeding with involvement of nervous system can be followed by polyneuropathy, paralyzes of the lower extremities, headaches, dizziness, orthostatic hypotension, perspiration, dementia etc.
Various clinical physicians can face clinical manifestations of an amiloidoz: rheumatologists, urologists, cardiologists, gastroenterologists, neurologists, dermatologists, therapists, etc. For the correct diagnosis comprehensive assessment of clinical and anamnestichesky signs, carrying out comprehensive laboratory and tool examination has paramount value.
For the purpose of assessment of a functional condition of cardiovascular system EhoKG, the ECG is appointed. Inspection of bodies of a digestive tract assumes performing ultrasonography of abdominal organs, x-ray diagnostics (a X-ray analysis of a gullet, stomach, an irrigografiya, a barium passage X-ray analysis), endoscopic researches (EGDS, a rektoromanoskopiya). It is necessary to think of an amiloidoza at a combination of a proteinuria, a leykotsituriya, a tsilindruriya to a gipoproteinemiya, a giperlipidemiya (increase in blood of content of cholesterol, lipoproteid, triglycerides), a giponatriyemiya and a gipokaltsiyemiya, anemia, decrease in quantity of platelets. The electrophoresis of serum of blood and urine allows to define existence of paraproteins.
Final diagnostics of an amiloidoz is possible after detection of amyloid fibrilla in the struck fabrics. For this purpose the biopsy of a kidney, lymph nodes, gums, a mucous membrane of a stomach, rectum can be made. Establishment of hereditary character of an amiloidoz is promoted by the careful medico-genetic analysis of a family tree.
Treatment of an amiloidoz
Lack of completeness of knowledge of an etiology and pathogenesis of a disease is caused by the difficulties connected with treatment of an amiloidoz. At a secondary amiloidoz active therapy of a background disease is important. Recommendations about food assume restriction of reception of table salt and protein, inclusion in a diet of a crude liver. Symptomatic therapy of an amiloidoz depends on existence and expressiveness of these or those clinical manifestations. As pathogenetic therapy medicines of a 4-aminokhinolinovy row (), a dimethyl sulfoxide, , colchicine can be appointed. For therapy of primary amiloidoz schemes of treatment are used by cytostatics and hormones ( + Prednisolonum, + doxorubicine + dexamethasone). At development of HPN the hemodialysis or peritonealny dialysis is shown. The question of transplantation of kidneys or a liver is in some cases raised.
The current of an amiloidoz has the progressing, almost irreversible character. The disease can be burdened by amyloid ulcers of a gullet and stomach, bleedings, a liver failure, diabetes, etc. At development of a chronic renal failure average life expectancy of patients makes about 1 year; at development of heart failure – about 4 months. The forecast of a secondary amiloidoz is defined by a possibility of therapy of the main disease. Heavier current of an amiloidoz is noted at elderly patients.