polyglandular deficiency syndrome
Introduction
Introduction to polyglandular deficiency syndrome Autoimmune polyglandular syndrome is also called multiple endocrine deficiency syndrome, and several endocrine glands simultaneously have low function. Endocrine defects can be caused by infection, infarction or tumor leading to destruction of all or most of the glands. However, most commonly endocrine gland failure is the result of inflammation, lymphocyte infiltration and partial or complete destruction due to autoimmune responses. A glandular autoimmune disease that affects a gland often follows the damage of another gland leading to endocrine gland failure. Two major types of exhaustion have been described. basic knowledge The proportion of illness: this disease is rare, the incidence rate is about 0.0001%-0.0002% Susceptible people: no specific population Mode of infection: non-infectious Complications: jaundice, diarrhea
Cause
Cause of polysomal deficiency syndrome
Endocrine defects can be caused by infection, infarction or tumor leading to destruction of all or most of the glands. However, most commonly endocrine gland failure is the result of inflammation, lymphocyte infiltration and partial or complete destruction due to autoimmune responses. A glandular autoimmune disease that affects a gland often follows the damage of another gland leading to endocrine gland failure. The following two main types of exhaustion are described:
Type I, the incidence is often in children or before the age of 35. Parathyroidism was most common (79%), followed by adrenal cortical failure (72%). Post-puberty gonadal failure, 60% of women, about 15% of men. Chronic mucosal candidiasis is common and diabetes is rare. This type can be accompanied by a locus on HLAA3, A28 or chromosome 21, usually autosomal recessive.
Type II glandular failure is generally seen in adults with a peak at 30 years of age, always involving the adrenal gland and is more common in the thyroid (Schmidt's syndrome) and islets, producing insulin-dependent diabetes mellitus (IDDM). There are often anti-target organ antibodies, especially anti-P450 cytochrome adrenocortical enzymes. However, the damage to the gland is unclear. Some patients start with thyroid-stimulating antibodies with hyperthyroidism symptoms and signs. Glandular destruction is primarily caused by cell-mediated autoimmunity or by inhibition of T cell function, or by some other T cell-mediated damage. In addition, reduction of systemic T cell-mediated immunity is common, manifested by low response to standard antigen skin tests, such as candida (from Candida), oxytocin (from hair fungus) and tuberculin. The inhibitory response was also seen in approximately 30% of first-generation relatives with normal endocrine function, suggesting that type II specific HLA-type features are associated with susceptibility to certain induced damage.
The other group, type III, occurs in adults and does not involve the adrenal gland, but includes at least two of the following symptoms: thyroid deficiency, IDDM, pernicious anemia, vitiligo, and plaque. Because the different manifestations of type III are no adrenal insufficiency, it may be only a "trash" of compound disease, such as adrenal failure, which is converted into type II.
Prevention
Polyglandular deficiency syndrome prevention
With the increasing rationality of hormone replacement therapy, the treatment of insulin-dependent diabetes mellitus, adrenal insufficiency and hypothyroidism is closer to the physiological state, reducing the incidence of endocrine emergency such as diabetic ketoacidosis and adrenal crisis. If there is no chronic complications of diabetes, after a good item, if there is a chronic complication of syrup, the prognosis is poor, and if there is diabetes, the diabetes should be controlled to prevent the occurrence of complications and improve the top. Rear.
Complication
Polyglandular deficiency syndrome complications Complications jaundice diarrhea
Patients with polysomal defect syndrome can be associated with pernicious anemia and fungal infection, which requires symptomatic treatment.
First, pernicious anemia
The onset is slow, most of the patients are over 40 years old when the symptoms begin to appear, and those under 30 years old are rare. The clinical manifestations include anemia, gastrointestinal symptoms and neurological symptoms.
Anemia: manifested as weakness, weight loss but not thin, pale, skin and sclera often have mild jaundice, physical activity, common shortness of breath, heartbeat, dizziness, tinnitus, pulse speed, very few patients can be without anemia at the time of initial diagnosis Very mild anemia with other symptoms.
Gastrointestinal symptoms: Tongue pain or burning sensation is a common symptom. It first appears on the tip and edge of the tongue. Sometimes it can be full of mouth and throat pain. It has a burning sensation when swallowing. This symptom can be several months to several years before anemia occurs. Already exist, it can be intermittent, most of the tongue is light without moss, the nipple disappears, the tongue is blushing like lean beef, occasionally superficial white small ulcer, loss of appetite, discomfort in the upper abdomen, diarrhea is more common.
Nervous system symptoms: About 70% to 95% of patients will develop these symptoms sooner or later. The nervous system symptoms can be the earliest symptoms of a few patients, and occasionally have neurological symptoms without anemia.
Common neurological symptoms and signs: sensory abnormalities, the most common are numbness of the hands and feet, tingling, lower limbs; lower limb tremor and positional sensation reduced or disappeared, the position of the passive movement of the big toe and index finger can not be discerned, exercise It can be seen that the walking is unstable, walking is difficult, especially in the dark, the fingers are small and clumsy, if the muscles of the spinal cord are involved, it can cause tension, and if the peripheral nerve is involved, the muscles are weak and slack, and the most serious can occur, the size Incontinence, sputum reflexes are weakened or even disappeared, reflexes are positive, and closed eyes are positive. These symptoms and signs are inconsistent in each case, but they are all due to the degeneration of the posterior cord, lateral and peripheral nerves of the spinal cord. Therefore, the basic pathological changes are degenerative degeneration and demyelination of the axons, and mental symptoms can also occur. More common are paranoia, irritability or depression; memory and mental decline, sexual dysfunction.
Others: The skin may have pigmentation. When the thrombocytopenia occurs, there may be a few bleeding points in the skin and mucous membranes. When the anemia is severe, the fundus often has bleeding. A few patients may have mild liver, splenomegaly, low fever when infected, and severe anemia. Heart failure can occur, and female patients often have amenorrhea.
Second, fungal infection
The disease caused by fungal infection is called mycosis. The highest incidence of candidiasis and dermatophytosis is caused by the fungus of the normal flora of the human body. The infection can be distinguished as: surface infection, skin infection, subcutaneous tissue infection, deep infection and conditions. Sexual infection.
Symptom
Symptoms of polyglandular deficiency syndrome Common symptoms Endocrine function decline pituitary dysfunction pituitary dysfunction
The clinical manifestations of patients with polysomal defect syndrome are the sum of individual glandular defects. There is no special order for individual glandular destruction. Determination of anti-endocrine gland circulating antibody levels and their composition does not seem to help, as these antibodies can last for years without endocrine gland failure. However, detecting antibodies can be helpful in certain situations, such as the identification of autoimmune and tuberculous adrenal insufficiency and the cause of hypothyroidism. Multiple endocrine glandular defects may suggest hypothalamic-pituitary failure. In almost all cases, elevated plasma levels of pituitary gonadotropins proved to be peripheral defects. In rare cases, hypothalamic-pituitary dysfunction was also used as a comprehensive component of type II.
Examine
Examination of polysomal defect syndrome
1. Blood biochemical examination: low adrenal cortical function can be combined with hyponatremia, mild hyperkalemia, combined with hypoparathyroidism, hypocalcemia, high blood phosphorus, low blood sugar, low glucose tolerance curve.
2. Hormone determination: blood cortisol, urinary 17-hydroxysteroids decreased, ACTH levels increased in patients with primary cortical dysfunction, blood thyroid hormone (PTH) was not detected or significantly reduced in patients with hypoparathyroidism, primary hypogonadism Blood follicle stimulating hormone (FlH) promotes luteal production (LH) elevation, estradiol (E2) and testosterone levels are reduced or not detected, and 17-ketosteroid levels are decreased.
3. Pituitary hormone excitatory target gland test: the most diagnostic value, the blood cortisol is not elevated in patients with primary adrenal insufficiency after injection of AcTH, and the blood in the primary hypogonadal function after injection of chorionic gonadotropin (HCG) The level of sex hormones is not elevated and the diagnosis can be determined.
4. Anti-endocrine gland antibody assay in blood: anti-adrenal antibody, anti-islet antibody, anti-insulin antibody, islet 63.49 ku (64 kd) antibody, parathyroid antibody, anti-thyroid antibody, anti-parietal cell antibody and internal factor antibody Helps to diagnose the cause.
5. CT or MRI
Diagnosis
Diagnosis and diagnosis of polysomal defect syndrome
Differential diagnosis
1, primary adrenal insufficiency: the disease needs to be identified with some chronic wasting disease and secondary adrenal insufficiency, the disease blood, low urinary cortisol levels, elevated blood ACTH levels, ACTH stimulation test does not respond It can be differentiated from chronic diseases. Secondary blood ACTH levels are normal or low. After ACTH stimulation, blood urinary cortisol levels gradually increase and can be differentiated from primary.
2, primary parathyroid hypofunction: need to be differentiated from other diseases that cause hypocalcemia, such as vitamin D deficiency or pseudohypothyroidism, chronic diarrhea and acid-base imbalance, parathyroid hypofunction, blood PTH levels Low or undetectable, blood and urinary cAMP increased after injection of PTH, while pseudohypothyroidism increased blood PTH level, no response to exogenous PTH, can be identified, other diseases causing hypocalcemia, blood PTH level is not low Can be identified with hypothyroidism.
3, primary hypogonadism: need to be differentiated from secondary hypogonadism and prolactinoma, primary LH, FsH levels increased, blood levels of sex hormones decreased, HcG stimulation test did not respond, can be compared with the above diseases Identification.
4, a small number of patients can occur pituitary moxibustion, resulting in hypopituitarism: hormone determination can be found in the pituitary hormone levels. With hypothalamic hormones, when the drug is excited, the pituitary reserve function is insufficient, and the diagnosis can be confirmed.
