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Addison's Disease (addison's + disease)
Selected AbstractsPrevalence of autoimmune diseases in islet transplant candidates with severe hypoglycaemia and glycaemic lability: previously undiagnosed coeliac and autoimmune thyroid disease is identified by screeningDIABETIC MEDICINE, Issue 2 2007M. Walter Abstract Aims, Autoimmune diseases such as Addison's or coeliac disease can contribute to hypoglycaemia or malabsorption and are more common in Type 1 diabetes (T1DM). This brief report describes the prevalence of known and newly detected autoimmune disease in clinical islet transplant candidates with longstanding T1DM and severe hypoglycaemia and/or glycaemic lability who are routinely screened for coexisting autoimmune disease. Methods, One hundred and twenty-four C-peptide negative T1DM subjects [77 (62%) female, mean age 44 ± 9 years, diabetes duration 28 ± 11 years, body mass index 24.9 ± 3.5 kg/m2] with indications for clinical islet transplantation at the University of Alberta were screened for autoimmune disease by history and measurement of anti-transglutaminase antibodies (positive > 10 U/ml), 09.00 h cortisol (followed by adrenocorticotrophic hormone-stimulation if < 495 nmol/l) and thyroid-stimulating hormone to determine the prevalence of coeliac disease, Addison's disease and autoimmune thyroid disease, respectively. Results, Forty per cent of subjects had one or more coexisting autoimmune disease. The prevalence of autoimmune disease was 35%, coeliac disease 8% and Addison's disease 1.6%. In 11 individuals (9%), one or more autoimmune disease were newly detected (seven coeliac disease and five thyroid disease). Seven of 10 cases of coeliac disease were newly detected. A gluten-free diet in individuals with newly diagnosed coeliac disease reduced gastrointestinal symptoms, but indications for clinical islet cell transplantation persisted. Conclusions, Coexisting autoimmune disease is common in candidates for clinical islet cell transplantation. Screening in this group identified a substantial number of previously unrecognized cases. Clinicians should consider the presence of autoimmune disease even in the absence of classical symptoms. [source] Chronic fatigue syndrome: an endocrine disease off limits for endocrinologists?EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, Issue 12 2003R. Baschetti Abstract Endocrinologists were not included in the multidisciplinary working groups that prepared two recent reports on chronic fatigue syndrome, despite its unequalled clinical overlap with Addison's disease, which is a classic endocrine disorder. The failure to include at least one endocrinologist in those panels may explain why in their extensive reports there is not a single word about the 42 clinical features that chronic fatigue syndrome shares with Addison's disease, including all the signs and symptoms listed in the case definition of this syndrome. [source] Do Corticosteroids Damage the Brain?JOURNAL OF NEUROENDOCRINOLOGY, Issue 6 2006J. Herbert Abstract Corticosteroids are an essential component of the body's homeostatic system. In common with other such systems, this implies that corticosteroid levels in blood and, more importantly, in the tissues remain within an optimal range. It also implies that this range may vary according to circumstance. Lack of corticosteroids, such as untreated Addison's disease, can be fatal in humans. In this review, we are principally concerned with excess or disturbed patterns of circulating corticosteroids in the longer or shorter term, and the effects they have on the brain. [source] Primary adrenal insufficiency in childhood and adolescence: Advances in diagnosis and managementJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 11 2004PJ Simm Objectives: Primary adrenal insufficiency occurring in childhood and adolescence is due to abnormalities of gland development, gland responsiveness, and steroid biosynthesis or target organ response. Causes include autoimmune Addison's disease, tuberculosis, HIV, adrenoleukodystrophy, adrenal hypoplasia congenita and syndromes including triple A and IMAGe. We aimed to define the causes of adrenal insufficiency for a cohort of children in Melbourne. Methods: We reviewed the frequency and variety of presentation of primary adrenal insufficiency to the Royal Children's Hospital over the past 10 years through an audit of patient records, collating demographic information, presentation and investigations. Results: Sixteen cases (13 male, 3 female) of primary adrenal insufficiency were diagnosed at this hospital between January 1993 and July 2003. Median age at presentation was 7.7 years (range: birth to 14.8 years). Symptoms at presentation included weakness, increased pigmentation, abdominal pain, nausea, developmental delay or a reduction in school performance. Four patients presented with adrenal crisis. Median adrenocorticotrophic hormone (ACTH) at diagnosis was 246 pmol/L (range 30,969 pmol/L). Autoantibodies were positive in five patients. Five patients had elevation of very long chain fatty acids. Five patients were diagnosed with autoimmune adrenal insufficiency, five with adrenal hypoplasia congenita, five with adrenoleukodystrophy and one with IMAGe syndrome. Conclusions: A high index of suspicion results in earlier detection and possible prevention of adrenal crisis with a reduction in associated morbidities. Definitive diagnosis is now possible for almost all cases of primary adrenal insufficiency using technologies for screening autoimmunity, adrenoleukodystrophy (ALD) and genetic screening. [source] Heritability and complex segregation analysis of hypoadrenocorticism in the standard poodleJOURNAL OF SMALL ANIMAL PRACTICE, Issue 1 2003T. R. Famula The heritability of hypoadrenocorticism (Addison's disease) was evaluated in 778 standard poodles with known Addisonian phenotypes. Addisonian status was confirmed clinically by adrenocorticotropic hormone (ACTH) challenge and 8·6 per cent of the poodles enrolled in the study were classified as being Addisonian. Hypoadrenocorticism affected both sexes with equal probability (P>0·1). The most common coat colours had a negligible effect on the incidence of hypoadrenocorticism (P>0·09), although red coat colour had a significant impact on the disease, probably due to the relatively small numbers of dogs with that coat colour. The heritability of hypoadrenocorticism in the standard poodle was estimated to be 0·75. Complex segregation analyses suggested that hypoadrenocorticism in the breed is influenced by an autosomal recessive locus. Clarification of both the heritability and mode of inheritance of hypoadrenocorticism in the standard poodle allows for better-informed breeding decisions. [source] Use of a point-of-care urine drug test in a dog to assist in diagnosing barbiturate toxicosis secondary to ingestion of a euthanized carcassJOURNAL OF VETERINARY EMERGENCY AND CRITICAL CARE, Issue 3 2009DACVA, DACVECC, Vicki L. Campbell DVM Abstract Objective , To describe a case of barbiturate toxicosis in a dog secondary to ingestion of a previously buried euthanized goat carcass and to discuss the utility of urine drug testing in diagnosing barbiturate toxicosis. Case Summary , A 6-year-old neutered male Border Collie was presented to a university veterinary teaching hospital for evaluation of ataxia and acute collapse. Past pertinent history included Addison's disease that had been managed for 1 year. A companion dog was seen 12 hours earlier chewing on the partially decomposed head of a goat that had been euthanized 47 days previously and buried on the owner's property. The dog was laterally recumbent, unresponsive to stimuli, and hypothermic on physical examination. Initial blood work revealed hyponatremia and hyperkalemia, with a Na/K ratio of 18.5. The dog was volume resuscitated and received an injection of dexamethasone sodium phosphate due to a suspected Addisonian crisis. Despite this treatment, the dog remained laterally recumbent and unresponsive to stimuli. A urine drug screen was performed and was positive for barbiturates. A diagnosis of barbiturate toxicosis secondary to ingestion of a euthanized goat carcass was made. The dog was treated supportively over 12 hours with IV fluids and activated charcoal. The dog was able to walk 11 hours after presentation and was subsequently discharged from the hospital. New or Unique Information Provided , Urine drug testing is a fast, easy, and point-of-care test that may be useful in dogs to assist in the diagnosis of barbiturate intoxication. Proper disposal of euthanized animals is necessary to prevent toxicosis and possible death of companion animals and wildlife. [source] Beta-cell, thyroid, gastric, adrenal and coeliac autoimmunity and HLA-DQ types in type 1 diabetesCLINICAL & EXPERIMENTAL IMMUNOLOGY, Issue 2 2001C. E. M. De Block The autoimmune attack in type 1 diabetes is not only targeted to , cells. We assessed the prevalence of thyroid peroxidase (aTPO), parietal cell (PCA), antiadrenal (AAA) and endomysial antibodies (EmA-IgA), and of overt autoimmune disease in type 1 diabetes, in relation to gender, age, duration of disease, age at onset, ,-cell antibody status (ICA, GADA, IA2A) and HLA-DQ type. Sera from 399 type 1 diabetic patients (M/F: 188/211; mean age: 26 ± 16 years; duration: 9 ± 8 years) were tested for ICA, PCA, AAA and EmA-IgA by indirect immunofluorescence, and for IA2A (tyrosine phosphatase antibodies), GADA (glutamic acid decarboxylase-65 antibodies) and aTPO by radiobinding assays. The prevalence rates were: GADA 70%; IA2A, 44%; ICA, 39%; aTPO, 22%; PCA, 18%; EmA-IgA, 2%; and AAA, 1%. aTPO status was determined by female gender (, = , 1·15, P = 0·002), age (, = 0·02, P = 0·01) and GADA +,(, = 1·06, P = 0·02), but not by HLA-DQ type or IA2A status. Dysthyroidism (P < 0·0001) was more frequent in aTPO + subjects. PCA status was determined by age (, = 0·03, P = 0·002). We also observed an association between PCA + and GADA +,(OR = 1·9, P = 0·049), aTPO +,(OR = 1·9, P = 0·04) and HLA DQA1*0501-DQB1*0301 status (OR = 2·4, P = 0·045). Iron deficiency anaemia (OR = 3·0, P = 0·003) and pernicious anaemia (OR = 40, P < 0·0001) were more frequent in PCA + subjects. EmA-IgA + was linked to HLA DQA1*0501-DQB1*0201 + (OR = 7·5, P = 0·039), and coeliac disease was found in three patients. No patient had Addison's disease. In conclusion, GADA but not IA2A indicate the presence of thyrogastric autoimmunity in type 1 diabetes. aTPO have a female preponderance, PCA are weakly associated with HLA DQA1*0501-DQB1*0301 and EmA-IgA + with HLA DQA1*0501-DQB1*0201. [source] AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECEDCLINICAL ENDOCRINOLOGY, Issue 5 2010Sara Cervato Summary Objective, To assess autoimmune regulator (AIRE) gene mutations, class II HLA haplotypes, and organ- or non-organ-specific autoantibodies in patients with chronic hypoparathyroidism (CH) without associated Addison's disease (AD) or chronic candidiasis (CC). Design, Patients and Measurements, Twenty-four patients who had CH without AD or CC were included in the study. AIRE gene mutations in all 14 exons were studied using PCR in 24 patients, 105 healthy controls and 15 first-degree relatives of CH patients with AIRE mutations. Human leucocyte antigens (HLA) were determined for all 24 patients and 105 healthy controls. Autoantibodies to a range of antigens including NACHT leucine-rich-repeat protein-5 (NALP5) and interferon omega (IFN,) were tested in all 24 patients. Results, AIRE gene mutations were found in 6 of 24 (25%) patients, all females, and this was significantly higher (P < 0·001) compared with AIRE mutations found in healthy controls (2/105). Three patients (12·5%) had homozygous AIRE mutations characteristic of Autoimmune-Poly-Endocrinopathy-Candidiasis-Ectodermal-Dystrophy and all three were also positive for IFN,-autoantibodies. Three patients (12·5%) had heterozygous AIRE mutations; two of these were novel mutations. One of the patients with heterozygous AIRE mutations was positive for both NACHT leucine,rich-repeat protein 5 and IFN, autoantibodies. Heterozygous AIRE mutations were found in 10 of 15 first-degree relatives of CH patients with AIRE mutations, although none was affected by CH. Class II HLA haplotypes were not statistically different in patients with CH compared to healthy controls. Conclusions, Analysis of AIRE gene mutations together with serum autoantibody profile should be helpful in the assessment of patients with CH, in particular young women with associated autoimmune diseases. [source] Corticosteroids and the cardiovascular response to stress: a pilot study of the 35% CO2 challenge in Addison's diseaseCLINICAL ENDOCRINOLOGY, Issue 3 2006J. M. Kaye Summary Objective, Glucocorticoids play an essential role in the neuroendocrine response to stress, influencing both the hypothalamic,pituitary,adrenal (HPA) axis and the sympatho-adrenomedullary (SAM) axis at several levels. In this pilot study, a clinical model of primary adrenocortical failure (Addison's disease, AD) has been used to evaluate the role of circulating glucocorticoids in both the autonomic and psychological response to stress. Design and subjects, Five subjects with known AD underwent a randomized, double-blind, placebo-controlled investigation in which they received fixed glucocorticoid plus mineralocorticoid hormone replacement or placebo for 48 h prior to a 35% CO2 challenge. Measurement, Psychological responses immediately before and after CO2 exposure were assessed by questionnaire. Systolic blood pressure (SBP) and heart rate were measured automatically at 1-min intervals for 5 min before and 5 min after the CO2 exposure. Results, While on hormone replacement, all subjects had an identical response to CO2 to that recorded in normal volunteers (initial bradycardia, an increase in blood pressure and subjective feelings of anxiety). On no replacement, however, the bradycardia and anxiety responses were not significantly altered, but the pressor response was markedly attenuated (+15·6 ± 5 mmHg on replacement compared with +4·2 ± 3·3 mmHg off replacement; P = 0·043). Conclusions, These data provide further evidence that the CO2 -induced bradycardia is a direct , presumably parasympathetic , response to CO2 independent of the pressor effect, and that the pressor response itself is dependent on the presence of the circulating corticosteroid. [source] Gonadotrophin receptor blocking antibodies measured by the use of cell lines stably expressing human gonadotrophin receptors are not detectable in women with 46,XX premature ovarian failureCLINICAL ENDOCRINOLOGY, Issue 3 2004Massimo Tonacchera Summary background, Premature ovarian failure (POF) is defined by cessation of ovarian function after puberty and before the age of 40. The syndrome is characterized by amenorrhoea, oestrogen deficiency and elevated levels of gonadotrophins. Autoimmunity has been proposed as a mechanism for some cases of destruction or malfunction of ovarian follicles. POF is often associated with type I and type II polyglandular autoimmune syndromes. It has also been postulated that receptors such as the LH and FSH receptors might become targets for blocking antibodies and such antibodies could be a cause of ovarian failure. patients and methods, Sixty-nine patients with POF isolated or associated with other endocrine autoimmune diseases (autoimmune thyroid diseases, Addison's disease, type 1 diabetes mellitus, multiple sclerosis, myasthenia gravis) were studied. All the patients had secondary amenorrhoea. The patient group had a median age of 33·1 years (range 15,57). Ovarian failure had been diagnosed at a median age of 29 years (range 15,39). The median time since diagnosis was almost 1 year but in six patients gonadal insufficiency had appeared 10,30 years earlier. All had a normal chromosomal karyotype (46, XX). Patients with POF were characterized by duration of amenorrhoea > 1 year, with elevated FSH and LH levels and undetectable or low oestrogen levels. Cell lines stably expressing recombinant human LH (CHO-LHr) and FSH (CHO-FSHr) receptors were prepared and used to search for antibodies able to inhibit LH- or FSH-stimulated cAMP production. Immunoglobulins extracted from sera of patients with POF were incubated with CHO-LHr and CHO-FSHr in the presence of human recombinant CG and FSH, respectively. results and conclusions, None of the immunoglobulin G (IgG) preparations from patients with POF was able to inhibit the activity of the FSH- and CG-stimulated cAMP production. [source] | ||||||||||