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)

Controversial data are available on the association between the retrovirus-like long-terminal repeat (LTR) DQ-LTR13 and genetic susceptibility to type 1 diabetes and other autoimmune diseases. We analyzed DNA samples from 315 type 1 diabetic patients, 166 autoimmune Addison's disease (AAD) patients, 1,054 healthy subjects, and 144 families of type 1 diabetic offspring. DQ-LTR13 was more frequent among patients than healthy subjects (P(c) < 0.0006), and a preferential transmission of DQB1*0302-LTR13(+) from parents to type 1 diabetic offspring was observed. DQ-LTR13 was in linkage disequilibrium (LD) with DQB1*0302 but not DQB1*0201. The presence of DQ-LTR13 increased the odds ratio of DQB1*0302 2.9- to 3.2-fold for type 1 diabetes and AAD. DRB1*0403 was absent in all of the 169 DRB1*04-positive patients but present in 27% (34 of 127) DRB1*04-positive healthy subjects (P(c) < 0.001). DQ-LTR13 was detected in 1 of 34 (3%) DRB1*0403-positive healthy subjects and 36 of 93 (39%) individuals carrying another DRB1*04 allele (P(c) = 0.002). Multivariate logistic regression analysis revealed that DQ-LTR13 is not independently associated with type 1 diabetes and AAD after correction for DQB1*0302 and DRB1*0403. Conversely, DQB1*0201, DQB1*0302, DRB1*0401, and DRB1*0403 were all significantly associated with disease risk also after correction for DQ-LTR13. We provide conclusive evidence that the genetic association of DQ-LTR13 with type 1 diabetes and AAD is primarily due to a LD with DQB1*0302 and DRB1*0403.
Diabetes 2005 Mar
PMID:Retrovirus-like long-terminal repeat DQ-LTR13 and genetic susceptibility to type 1 diabetes and autoimmune Addison's disease. 1573 71

Autoimmune diseases are most common and most active in young women; it is therefore not uncommon for obstetricians and physicians to encounter pregnant women with these conditions, and knowledge of the potential maternal, foetal and neonatal complications is essential for good clinical management. The most common maternal autoimmune endocrine conditions in pregnancy are insulin-dependent diabetes mellitus and thyroid disease. Other relatively common non-endocrine autoimmune conditions include systemic lupus erythematosus and anti-phospholipid syndrome. Much rarer autoimmune conditions include autoimmune thrombocytopenia, rheumatoid arthritis, myasthenia gravis and Addison's disease. In this chapter, we discuss autoimmune endocrine conditions and briefly mention some non-endocrine conditions of particular importance.
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PMID:Obstetric complications due to autoantibodies. 1582 28

Generalized vitiligo is an autoimmune disorder in which acquired white patches of skin and overlying hair result from autoimmune loss of melanocytes from involved areas. Although usually sporadic, family clustering of vitiligo may occur, in a non-Mendelian pattern typical of multifactorial, polygenic inheritance. Sporadic vitiligo is associated with autoimmune thyroid disease, pernicious anemia, Addison's disease, and lupus; these same disorders occur at increased frequency in patients' first-degree relatives. Here, we studied 133 'multiplex' generalized vitiligo families, with multiple affected family members. The age of onset of vitiligo is earlier in these 'multiplex' families than in patients with sporadic vitiligo. Affected members of the multiplex vitiligo families have elevated frequencies of autoimmune thyroid disease, rheumatoid arthritis, psoriasis, adult-onset insulin-dependent diabetes mellitus, pernicious anemia, and Addison's disease. Probands' unaffected siblings have elevated frequencies of most of these same autoimmune diseases, particularly if the proband had non-vitiligo autoimmune disease. Familial generalized vitiligo is thus characterized by earlier disease onset and a broader repertoire of associated autoimmune diseases than sporadic vitiligo. This mostly likely reflects a greater inherited genetic component of autoimmune susceptibility in these families. These findings have important implications for autoimmune disease surveillance in families in which multiple members are affected with vitiligo.
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PMID:Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo. 1602 22

Autoimmune diseases are manifested in a broad spectrum. Classic examples of organ-specific autoimmune disease include Addison's disease, insulin-dependent type-1 Diabetes mellitus, Grave's disease (MGB), and Hashimoto thyroiditis (HT). The initial report of this autoimmune thyroid disease (AITD) dates back to Hakira Hashimoto (1912). In HT, as an organ-specific autoimmune disease, massive infiltration of lymphoid cells and parenchyma destruction are a consistent feature. The infiltration appears to be immune-mediated, primarily lymphocytic (T helper, T suppressor cells), NK cells and B cells. The pathological characteristics of AITD include development of the goitre (atrophic form is not so frequent), impaired thyroid gland function (from hyperthyroidism to subclinical and manifested hypothyroidism) and the formation of antithyroidal antibodies against thyroglobulin (AbTg) and the microsomal antigen (Ab TPO). There is a very good correlation between the antibodies against TPO and the histological findings. Morbus Graves Basedow is characterized by autoimmune hyperthyroidism with goitre, and infiltrative orbitopathy. Autoantibodies against the TSH-receptor molecule on the plasma membrane of the thyroid gland follicles cause a nonphysiological activation and an increase of the cellular function. Besides this hyperthyroidal condition, an autoimmune attack against the retrobulbar tissue leading to endocrine orbitopathy, can be noted in about 40% of patients suffering from MGB.
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PMID:[Autoimmune thyroid disease--clinical symptoms of associated autoimmunity]. 1640 52

Organ-specific autoimmune endocrine disorders may occur together in autoimmune polyendocrine syndromes (APS). The diverse names given to APS and the underestimation of their real frequency reflect the large number of studies and case reports concerning these patients and heterogeneity in their clinical presentation. In this article we report the case of a 64-year-old man, initially diagnosed with Addison's disease and type 2 diabetes mellitus. Clinical examination, laboratory tests and radiological examination revealed the presence of co-existing Graves' disease and enabled us to classify the type of his diabetes as latent autoimmune diabetes in adults (LADA). Taking into account all his disorders, we assume that our patient suffers from a variant of type 2 APS. In the described state of the examined patient, accurate diagnosis, modification of hitherto treatment and implementation of new treatment strategies not only improved his clinical status but also allowed avoiding unnecessary administration of some drugs. This case illustrates the need for clinical awareness of APS in patients with any diagnosed autoimmune endocrine disorder.
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PMID:[An unusual clinical presentation of the autoimmune polyendocrine syndrome]. 1678 9

Perioperative management of patients with adrenal gland diseases requires detailed information on the individual endocrine status and the potential complications. Typical signs of primary hyperaldosteronism (Conn's syndrome) comprise arterial hypertension, hypokalaemia and metabolic alkalosis. In such cases preoperative treatment with spironolactone is highly recommended. In patients with hypercortisolism (Cushing's syndrome) the following concomitant disorders must be considered particularly: arterial hypertension, osteoporosis, vulnerable skin, diabetes mellitus, and increased risk for infection and thromboembolism. In all patients with proven or suspected adrenocortical insufficiency (i.e. Addison's disease, after removal of a cortisol producing tumour or as the result of long-term therapy with glucocorticoids) consequent perioperative supplementation of hydrocortisone is mandatory. In patients with phaeochromcytoma hypertensive crisis and tachyarrhythmias may occur intraoperatively resulting from massive catecholamine release. Thus, preoperative treatment with the beta-antagonist phenoxybenzamine is obligatory. In contrast, nitroprusside is the substance of choice for intraoperative control of blood pressure. beta-blocking agents may be used in phaeochromocytoma but only under sufficient beta-blockade. Removal of a malignant tumour of the adrenal gland may induce massive haemorrhage, and thus anaesthetic management has to be modified.
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PMID:[Anaesthesia for patients with adrenal gland diseases]. 1736 36

Calcification of the auricular cartilages is a very rare finding observed in metabolic disorders like Addison's disease, adrenal insufficiency or diabetes. Its aetiology and physiopathological mechanisms remain unclear. It may be caused by exposure to cold or trauma in the cartilage but in a significant number of cases, ossification occurs without the identification of the precipitating cause or event. We present the clinical and pathologic findings of a patient suffering from Addison's disease who developed auricular bilateral calcification. The literature is reviewed and the physiopathological hypotheses discussed.
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PMID:[Calcification of auricular cartilages in adrenal insufficiency]. 1742 14

It is proposed that insulin has a cardinal role in the regulation of serum potassium levels in man, which may be of greater importance than the effect of insulin on glucose metabolism. Although the first described action of insulin was on glucose transport, it is a hormone with many functions some of which may operate in a metabolic hierarchy depending on the relative importance of the action required. Insulin also promotes the transport of potassium ions from the extracellular space to the intracellular space and it is suggested that there are occasions where this action may take place at the expense of glucose regulation. In metabolic terms, tight control of serum potassium is of greater importance than precise control of serum glucose, because quite small variations in serum potassium may cause death whereas wide variations in serum glucose may be tolerated. Serum potassium levels generally remain very stable despite large daily variations in potassium intake. It follows that potassium control mechanisms must be of outstanding efficiency as serious disturbances of potassium balance are relatively uncommon. 'Nature makes experiments on Man': shadowy but important physiological mechanisms that may almost be taken for granted in normal health are often brightly illuminated by unusual pathological conditions. This paper describes two remarkable patients who presented with extreme hyperkalaemia. This condition was the result of simultaneous insulin and aldosterone deficiency occurring because of concomitant diabetes and Addison's disease. Other medical conditions with disturbances in aldosterone, insulin and potassium control will be referred to in support of the hypothesis that insulin secretion is central to potassium regulation. This hypothesis explains the secondary disturbances in glucose metabolism that occurs in clinical situations where the primary problem is perturbation of potassium regulation.
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PMID:Addison's disease and the regulation of potassium: the role of insulin and aldosterone. 1745 1

As diabetes mellitus type 1 (DM1) is associated with other autoimmune diseases, clinical tools are needed to diagnose and predict the occurrence of other autoimmune diseases in DM1. We performed a systematic search of the literature on the prevalence, and the diagnostic and prognostic significance of organ-specific autoantibodies in DM1, focusing on the most prevalent autoimmune diseases in DM1: Hashimoto's disease, autoimmune gastric disease, Addison's disease and coeliac disease. We found 163 articles that fulfilled our selection criteria. We analysed and compared the prevalence of autoantibodies in DM1 and control populations, studied the relation between antibody prevalence and age, gender, race and DM1 duration and studied the relation between the presence of autoantibodies and organ dysfunction. Because of the large variation in population characteristics and study design, a uniform conclusion on the relation of these autoantibody prevalences with age, gender, race, DM1 duration and target organ failure cannot be drawn easily. In addition, most studies reviewed used a cross-sectional design. Therefore, few data on the predictive value of the organ-specific antibodies in DM1 populations are present in these studies. Obviously, prospective studies are needed to fill this gap in knowledge. Despite these restrictions, the general picture from the present review is that the prevalence of the organ-specific autoantibodies is significantly higher in DM1 than in control populations. Given the relevant risk for organ failure in DM1 patients with autoantibodies against thyroid, gastric, adrenal and intestinal antigens, we recommend checking these autoantibodies in these patients at least once, for instance at the diagnosis of DM1. For detailed advice on assessing the different organ autoantibodies and function we refer to the summaries in the results section.
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PMID:Prevalence and clinical significance of organ-specific autoantibodies in type 1 diabetes mellitus. 1765 8

Many organ-specific autoimmune diseases are preceded by a long pre-clinical phase, and several longitudinal cohort studies have shown that patients may carry autoantibodies many years before they manifest clinical symptoms. Detecting these antibodies in serum has been shown to have strong predictive value, depending on the particular autoantibody, test method, and disease at issue. This review examines the predictive value of various autoantibodies that are found in organ-specific autoimmune diseases, such as primary biliary cirrhosis, Addison's disease, Hashimoto's thyroiditis, type-1 diabetes, celiac disease, and Crohn's disease.
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PMID:The predictive significance of autoantibodies in organ-specific autoimmune diseases. 1808 42


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