Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Patients with insulin-dependent diabetes mellitus, autoimmune thyroid disease, Addison's disease, and alopecia areata are at increased risk of celiac disease. We investigated whether patients with more than one autoimmune endocrinologic disorder are even more susceptible to celiac disease or have celiac-type mucosal inflammation. All 62 patients found to have such multiple diseases in 1994-1996 were investigated. Small bowel biopsy was performed on all voluntary nonceliac subjects. The villous structure and density of intraepithelial lymphocytes were examined, and HLA-DQ alleles were determined. Seven (11%) patients had celiac disease: six cases were detected earlier and there was one new case; in addition, two had minor villous deterioration and five an increased density of mucosal intraepithelial gammadelta+ T-cells. HLA-DQ2 or DQ8 alleles were found in all subjects with mucosal changes. Patients with multiple autoimmune disorders clearly run an increased risk of developing celiac disease, and some of them have minor mucosal changes compatible with the early signs of the disease.
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PMID:Celiac disease and autoimmune endocrinologic disorders. 1096 32

Hyperkalaemia is a frequent electrolyte disturbance connected with new knowledge and practical routine. It is developed by the disorders of the "external balance" (potassium [K] intake and output) as well as the "internal balance" (distribution of K in the extracellular and intracellular fluid compartments). Factors playing a role in it are: the upright posture, physical activity and hyperosmolality. In the hormonal regulation of K metabolism first of all beta adrenergic agents, insulin and aldosterone have significance; the first two mainly in the internal balance. Hyperkalaemia is occurring especially frequently in renal patients (in acute and chronic renal insufficiency, in dialyzed persons) in patients with diabetes, in adrenal insufficiency (Addison's disease, in selective hypoaldosteronisms and in pseudohypoaldosteronisms) in renal tubular acidosis as well as in response to various drugs (ACE inhibitors, angiotensin receptor antagonists, beta blocking agents, potassium sparing diuretics, NSAID's, anticoagulants etc.). Interactions between illness and drugs as well as between drugs and hormones may have outstanding importance in the development of hyperkalaemia. Physical activity carried out in the upright posture in the presence of hyperosmolality (water restriction together with salt or/and glucose loading) developing in pharmacological hypoaldosteronism accompanied with insulin deficiency, may be especially dangerous with respect to hyperkalaemia. To avoid life-threatening hyperkalaemia it is necessary 1. to stop cardiotoxicity with calcium; 2. to enhance K uptake by the cells by bicarbonate, insulin and beta adrenergic agents; and 3. to remove abnormal quantities of K from the body by enemas and/or ion exchange resins. The quickest and best way of treatment of hyperkalaemia is haemodialysis.
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PMID:[Hyperkalemias]. 1061 44

Autoantibodies against aromatic L-amino acid decarboxylase (AADC) are present in about 50 percent of sera from patients with autoimmune polyendocrine syndrome type I (APS I) but absent in sera from patients with different organ-specific autoimmune diseases, such as insulin-dependent diabetes mellitus, Hashimoto's thyroiditis, and Graves' disease. AADC is expressed in the pancreatic beta-cells, the liver, and the nervous system; and the presence of AADC antibodies has been shown to correlate to hepatitis and vitiligo in APS I patients. Among 101 investigated patients with autoimmune Addison's disease, 15 had high titers of AADC antibodies. According to the clinical characteristics of these patients, only 3 had APS I. The remaining 12 had either isolated Addison's disease or associated diabetes mellitus, hypothyroidism, vitiligo, alopecia, gonadal failure, and pernicious anemia. Autoantibodies against 21-hydroxylase were present in 9 of 12, whereas autoantibodies against side-chain cleavage enzyme and 17alpha-hydroxylase were present in 3 of 12. Two patients had only autoantibodies against AADC. DNA was available from 3 of these 12 patients. One of the patients, a woman with Addison's disease, autoimmune thyroiditis, and premature menopause was heterozygous for a point mutation (G1021A, Val301Met) in the first plant homeodomain zinc finger domain of the autoimmune regulator (AIRE) gene. The presence of AADC autoantibodies identifies patients with APS I and a subgroup of Addison patients who may have a milder atypical form of APS I or represent a distinct entity. Measurement of autoantibodies against AADC should be included in the evaluation of Addison's disease.
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PMID:Autoantibodies against aromatic L-amino acid decarboxylase identifies a subgroup of patients with Addison's disease. 1063 24

Unstable and unpredictable disease control in diabetes or asthma, with frequent hospitalisations, is frequently referred to as 'brittle'. We describe two cases of Addison's disease with recurrent hospitalisations in hypo-adrenal crises. Both patients had significant psychosocial disruption, and failure to take hydrocortisone replacement therapy was admitted in one and biochemically proven in the other. We propose that 'brittle' Addison's disease in these cases was due to poor treatment compliance related to psychosocial factors. These features have particular similarities with the syndrome of brittle diabetes.
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PMID:Brittle Addison's disease: a new variation on a familiar theme. 1068 30

Premature ovarian failure (POF) is a disorder of heterogeneous etiology, and autoimmunity has been suspected as one cause of POF. The steroidogenic enzyme, 3beta-hydroxysteroid dehydrogenase (3betaHSD), has been characterized as a potential autoantigen in POF as well as in insulin-dependent diabetes mellitus (type 1 diabetes). Here we studied the presence of steroid cell antibodies (SCA), autoantibodies to 3betaHSD and to two other known autoantigens in ovarian failure, steroidogenic enzymes 17alpha-hydroxylase (P450c17), and side-chain cleavage enzyme (P450scc) in POF patients and patient groups with autoimmune polyendocrinopathy syndromes type 1 and 2 (APS1 and -2), isolated Addison's disease, type 1 diabetes, and healthy controls. The SCA were found in 2 of 48 POF, 11 of 15 APS1, and 1 of 9 APS2, and autoantibodies to in vitro translated 3betaHSD protein were detected in 1 POF serum associated with Addison's disease and 3 APS1 sera. All 3betaHSD precipitating sera were also positive for SCA. However, no SCA or 3betaHSD autoantibodies were found in 38 Addison's disease, 28 type 1 diabetes, and 71 healthy control sera. In analysis of autoantibodies to P450c17 and P450scc, antibodies to these enzymes were not found in POF sera, but were found in 10 and 12 APS1 patient sera, respectively, and 1 APS2 patient serum contained anti-P450c17 antibodies. Our results show that autoantibodies to 3betaHSD in POF patients are rare and are also found in patients with APS1.
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PMID:3beta-hydroxysteroid dehydrogenase autoantibodies are rare in premature ovarian failure. 1085 71

Advances in immunology, biochemistry, and molecular biology have combined to allow the development of a large series of autoantibody assays utilizing recombinantly produced autoantigens. Labeled target proteins can be readily produced by in vitro transcription and translation of relevant cloned cDNA. The assays are carried out in the fluid phase and for most assays are more specific and sensitive than ELISA based assays. For some antigens (e.g. insulin) though ELISA assays detect antibodies following immunization, workshops indicate they are almost worthless for the diagnosis and prediction of type 1A diabetes. This new generation of radioassays is usually carried out in 96-well microtiter filtration plates that allow high throughput. Given such assays, individuals at high risk for type 1A diabetes, celiac disease, and Addison's disease can now be readily identified.
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PMID:High-throughput radioassays for autoantibodies to recombinant autoantigens. 1105 82

A 32-year-old student reported fatigue and malaise since two months in the absence of specific symptoms. Clinical examination and extensive laboratory testing revealed no abnormalities at his first presentation. Some weeks thereafter, on re-admission, hyperpigmentation suggestive of Addison's disease was observed and pathognomonic autoantibodies directed against the thyroid gland and the adrenal cortex were detected. Further evaluation led to the diagnosis autoimmune polyglandular deficiency syndrome, also named "Schmidt syndrome", comprising adrenocortical insufficiency (Addison's disease) and lymphocytic thyroiditis (Hashimoto thyroiditis). The diagnosis of polyglandular insufficiency is often delayed due to non-specific symptoms at early disease stages and progression may be rapid, culminating in Addisonian crisis under physical stress or infection, requiring immediate high-dose hormone replacement therapy. Hence, careful re-examination is mandatory to ensure adequate treatment before life-threatening complications occur. Nowadays this type of disease is classified as autoimmune polyglandular syndrome type II (APS type II) with an increased risk of developing insulin-dependent diabetes mellitus (IDDM), vitiligo, alopecia, pernicious anaemia, coeliac disease, myasthenia gravis and primary hypogonadism. The cause of the disease remains obscure but in addition to an autosomal dominant trait with variable penetrance some hints at viral infection triggering the disease process exist.
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PMID:32-year old patient presenting with autoimmune polyglandular syndrome. 1131 87

Sera from 300 Italian patients with Addison's disease were collected over a 30 year period. Among these patients, 82% had autoimmune disease, 13% had tuberculosis and 5% had another causal condition. In 59% of the cases, autoimmune disease was associated with the autoimmune manifestations contributing to the description of polyglandular autoimmune disease (PGAD). In PGAD type 1, the disease was associated with chronic candidiasis and/or chronic hypoparathyroidism. In PGAD type 2, the patients had autoimmune thyroid disease and/or diabetes mellitus type 1, and in PGAD type 4, they presented a combination with other autoimmune diseases excluding those previously mentioned. Finally, the autoimmune disease was apparently isolated in 41% of the cases. In addition, patients with these four forms of disease exhibited a different genetic pattern, sex distribution, and age at presentation in addition to minor frequency of autoimmune diseases. Adrenal cortex autoantibodies directed against 21-hydroxylase were common serological markers for these four main clinical forms, showing a very high frequency at clinical onset of adrenal insufficiency. In some patients, steroid-producing cell autoantibodies were also present and correlated with gonadal failure and they recognize of 17alpha-hydroxylase or P450 side chain cleavage enzymes as target antigens.
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PMID:Autoimmunity in isolated Addison's disease and in polyglandular autoimmune diseases type 1, 2 and 4. 1135 94

The autoimmune polyendocrine syndrome type II (APS-II) is characterized by the association of autoimmune Addison's disease with thyroid autoimmune diseases or type-1 diabetes mellitus. 21-Hydroxylase autoantibodies enable the accurate diagnosis of autoimmune Addison's disease and, in patients with other endocrine autoimmune diseases, identify subjects at high risk for clinical adrenal insufficiency. 17 alpha-Hydroxylase (17OH) and side-chain-cleavage enzyme (P450scc) are target autoantigens of steroid-cell autoantibodies, and in women with Addison's disease, 17OH autoantibodies and P450scc autoantibodies are markers of increased risk for premature ovarian failure. Thyroperoxidase autoantibodies, thyroglobulin autoantibodies, H+/K(+)-ATPase autoantibodies, and GAD65 autoantibodies are frequently detected in patients with isolated Addison's or APS-II. Screening for other organ-specific autoimmune diseases should be performed in every patient with at least one major disease component of APS-II.
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PMID:Autoantibodies in autoimmune polyendocrine syndrome type II. 1209 56

Type 1A diabetes mellitus has become one of the most intensively studied autoimmune disorders, with characterized animal models and extensive prospective studies of the development of anti-islet autoimmunity. It is now possible to predict the development of type 1A diabetes mellitus, beginning with HLA-encoded genetic susceptibility, followed by the development of a series of anti-islet autoantibodies. Prediction primarily is based on the detection of multiple anti-islet autoantibodies reacting with cloned islet antigens. Multiple international workshops fostered the development of specific and sensitive radioassays for autoantibodies reacting with GAD65 (glutamic acid decarboxylase), ICA512 (also termed IA-2, a tyrosine phosphatase-like protein), and insulin. Similar high throughput radioassays have been applied using autoantigens for additional autoimmune disorders including celiac disease and Addison's disease. Relatives of patients with type 1A diabetes mellitus inherit susceptibility to express multiple autoantibodies, and a subset of autoantibody-positive individuals inherit susceptibility to progress to overt disease. This article reviews autoimmune disorders associated with type 1A diabetes mellitus.
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PMID:Type 1A diabetes mellitus-associated autoimmunity. 1209 57


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