Autoimmune poliglandulyarny syndrome
Autoimmune poliglandulyarny syndrome – the endokrinopatiya of autoimmune genesis proceeding with simultaneous primary multiple damage of endocrine glands and other bodies. At an autoimmune poliglandulyarny syndrome of 1 type nadpochechnikovy insufficiency, candidiasis of skin and mucous, is noted; the autoimmune poliglandulyarny syndrome 2 types proceeds with development of nadpochechnikovy insufficiency, hyper - or a hypothyroidism, insulin-dependent diabetes, primary gipogonadizm, a myasthenia, a steatorea, etc. violations. Diagnostics includes definition of a complex of laboratory indicators (the biochemical analysis, hormones of blood and urine), ultrasonography and KT of adrenal glands, ultrasonography of a thyroid gland. Treatment of an autoimmune poliglandulyarny syndrome demands purpose of replacement therapy by hormones (corticosteroids and mineralokortikoida, L-tiroksinom).
Autoimmune poliglandulyarny syndrome
Autoimmune poliglandulyarny syndrome (APGS) – the immunoendocrine violation which is characterized by primary functional insufficiency of several endocrine glands, and also not endocrine organospetsifichesky diseases. In endocrinology distinguish an autoimmune poliglandulyarny syndrome of 1 and 2 types (APGS-1, 2) which have the genetic, immunological and clinical features.
The autoimmune poliglandulyarny syndrome of 1 type usually demonstrates at children's age (10-12 years) and is sometimes designated in literature by the term "juvenile family poliendokrinopatiya". In general prevalence of APGS-1 is small, however the disease meets in men's population, mainly at residents of Finland, Sardinia, Iran a little more often that is explained by long genetic isolation of these people. The autoimmune poliglandulyarny syndrome of 1 type includes a triad of signs: nadpochechnikovy insufficiency, and .
The most frequent option of a multiple endokrinopatiya of the autoimmune nature is the autoimmune poliglandulyarny syndrome 2 types which develops at adults (20-30 years are more senior); among the diseased women prevail. The APGS-2 components are nadpochechnikovy insufficiency, diabetes of the 1st type, autoimmune damage of a thyroid gland as primary hypothyroidism or a thyrotoxicosis. Except endocrine violations, the autoimmune poliglandulyarny syndrome of 1 and 2 types is accompanied by other organospetsifichesky manifestations.
Reasons of an autoimmune poliglandulyarny syndrome
Both types of an autoimmune poliglandulyarny syndrome are genetically determined what points the heredo-familial nature of a disease to. At this APGS-1 brothers and sisters of one generation are surprised; an autoimmune poliglandulyarny syndrome 2 types – representatives of one family throughout several generations.
Autoimmune poliglandulyarny syndrome of 1 type – the only known autoimmune disease having the monogenic nature. The mutation of a gene of the autoimmune regulator (AIRE) located on a long shoulder of 21 chromosomes (21q22.3) leads to development of APGS-1. The autoimmune poliglandulyarny syndrome-1 is inherited on autosomno-recessive type and is not connected with HLA gaplotipa.
The autoimmune poliglandulyarny syndrome 2 types is associated with HLA (anti-genes of DR3, DR4, DR5, V8, Dw3). It is probable that the mechanism of development APGS-2 is connected with an abnormal expression of anti-genes of HLA system on cellular membranes of endocrine glands which is started under the influence of any external factors.
Symptoms of an autoimmune poliglandulyarny syndrome of 1 type
The autoimmune poliglandulyarny syndrome of 1 type usually for the first time declares itself in the first 10 years of life development of granulematozny candidiasis (a kandidamikoz of skin and mucous) and a gipoparatireoza. Further (it is frequent decades later) chronic nadpochechnikovy insufficiency joins (an addisonova a disease). As clinical criteria of establishment of the diagnosis of a syndrome serves the combination of two of three mentioned endocrine violations.
Candidiasis at APGS-1 has generalized character and affects mucous membranes of an oral cavity, genitals, airways and digestive tract, and also skin, nail rollers, nails. Gipoparatireoz is shown by spasms of muscles of extremities, paresteziy skin, a laryngospasm, the convulsive attacks reminding epilepsy. Nadpochechnikovy insufficiency at an autoimmune poliglandulyarny syndrome increases is hidden and can for the first time will be shown by addisonichesky crisis against the background of a stressful state.
The classical triad at an autoimmune poliglandulyarny syndrome is often combined with primary gipogonadizm (45%), an alopetion (30%), a malabsorption syndrome (23%), pernitsiozny anemia (14%), chronic autoimmune hepatitis (12%), an autoimmune tireoidit (10%), insulin-dependent diabetes (4%), vitiligo (4%). Less often dystrophy of nail plates, a hypoplasia of tooth enamel meets, glomerulonefrit, bronchial asthma, a cataract.
Against the background of an autoimmune poliglandulyarny syndrome of 1 type at women the hypoplasia of ovaries (autoimmune ooforit), followed by primary or secondary amenorey is noted. The men's gipogonadizm is shown by decrease by a libido, impotence, infertility.
Symptoms of an autoimmune poliglandulyarny syndrome 2 types
The demonstration of an autoimmune poliglandulyarny syndrome 2 types is the share of mature age (about 30 years). As the first manifestation of an endokrinopatiya usually serves chronic nadpochechnikovy insufficiency. Other autoimmune components (diabetes of the 1st type, autoimmune tireoidit), as a rule, join in 7-10 and more years.
At patients with an autoimmune poliglandulyarny syndrome 2 types often develop primary gipogonadizm, a myasthenia, vitiligo, dermatitis, an alopetion, autoimmune gastritis, a tseliakiya, , poliserozita (pleurisy, perikardit, ascites), a timoma. At an autoimmune poliglandulyarny syndrome an atrophy of optic nerves, hypophysis tumors, autoimmune trombotsitopenichesky purple etc. can be observed.
Most often in clinical practice the option of an autoimmune poliglandulyarny syndrome of the 2nd type combining primary chronic nadpochechnikovy insufficiency with autoimmune damage of a thyroid gland meets: an autoimmune tireoidit, is more rare - a diffusion toxic craw (Schmidt's syndrome). Multiple endokrinopatiya mutually burden each other and make heavier the course of a disease.
Diagnostics of an autoimmune poliglandulyarny syndrome
As criteria for statement of the clinical diagnosis serve the isolated components of an autoimmune poliglandulyarny syndrome confirmed in the laboratory and tool way (skin and mucous candidiasis, and HNN at APGS-1; HNN, autoimmune tireoidit also diabetes at APGS-2). At APGS of 1 type carrying out the molecular and genetic analysis allowing to reveal a characteristic gene mutation is most indicative.
Laboratory inspection at an autoimmune poliglandulyarny syndrome includes definition of biochemical indicators of blood (level of the general and ionized calcium, phosphorus, potassium, sodium, bilirubin, , alkaline phosphatase, the general protein, urea, creatinine, glucose), blood BRAIDS, etc. Important diagnostic data yield results of researches of hormones: TTG, a free tiroksin, a paratgormon, AKTG, insulin, S-peptide, cortisol, a renin, an aldosteron, a somatomedin of S, AT-TPO, AT to beta cells of a pancreas and GAD, testosterone, LG, FSG, etc.
Tool researches include ultrasonography of an abdominal cavity, a thyroid gland, bodies of a small pelvis (at women) and scrotums at men, EhoKG, KT of adrenal glands. In the presence of indications consultations of narrow experts – a diabetolog, the gastroenterologist, the hepatologist, the dermatologist, the mycologist, the neurologist, the hematologist, the ophthalmologist, the gynecologist-endocrinologist, the andrologist, the rheumatologist are held.
Treatment of an autoimmune poliglandulyarny syndrome
Therapy of an autoimmune poliglandulyarny syndrome represents a complex challenge and it consists of treatment of its separate components. The basis of pathogenetic therapy is made by constant replaceable hormonal therapy at functional insufficient the struck endocrine glands. At nadpochechnikovy insufficiency glucocorticoids (a hydrocortisone, dexamethasone, Prednisolonum, ), mineralokortikoida (DOKSA, a dezoksikortikosterona, etc.) are appointed, at a hypothyroidism - L-tiroksin.
At the kandidamikoz accompanying an autoimmune poliglandulyarny syndrome of 1 type antifungal medicines are used. At diabetes against the background of an autoimmune poliglandulyarny syndrome 2 types can be required immunosupressivny therapy tsiklosporiny. The use of the increased amount of ascorbic acid and salt is recommended to patients. Alcohol intake, some medicines is forbidden.
Forecast of an autoimmune poliglandulyarny syndrome
Early identification of an autoimmune poliglandulyarny syndrome and performing adequate replacement therapy allow to control the course of a disease. However working capacity, as a rule, decreases – the II-III group of disability is appropriated to patients.
Patients with an autoimmune poliglandulyarny syndrome are subject to dispensary observation of the endocrinologist and other experts. At stressful states, interkurrentny infections, a physical or intellectual overstrain patients need increase in a dose of hormones. The immediate address to the doctor at any deterioration in health is necessary. The lethal outcome at an autoimmune poliglandulyarny syndrome can come from a laryngospasm, a visceral kandidamikoz, sharp nadpochechnikovy insufficiency.