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(Adrenocortical insufficiency chronic Addison's Disease )
48 results
  • Novel mutation in AIRE gene with autoimmune polyendocrine syndrome type 1. [Journal Article]
    Immunobiology. 2019 11; 224(6):728-733.Fardi Golyan F, Ghaemi N, … Ghahraman M
  • Autoimmune polyendocrine type 1 (APS-1) is a complex inherited autosomal recessive disorder. Classically, it appears within the first decade of life followed by adrenocortical insufficiency, mucocutaneous candidiasis, Addison's disease, and hypoparathyroidism. The clinical phenotype of APS-1 varies depending upon mutations in the autoimmune regulator gene (AIRE) on chromosome 21q22.3.
  • Endotext: Adrenal Insufficiency Due to X-Linked Adrenoleukodystrophy [BOOK]
    Endotext. MDText.com, Inc.: South Dartmouth (MA)Feingold KR, Anawalt B, … Wilson DPKanakis G, Kaltsas GBOOK
  • X-linked adrenoleukodystrophy (X-ALD) is an inherited neurodegenerative disorder, involving mainly the white matter and axons of the central nervous system, the adrenal cortex, and the testis and a frequent but under-recognized cause of primary adrenocortical insufficiency. X-ALD is caused by a defect in the gene ABCD1 that maps to Xq 28 locus. The primary biochemical disorder is the accumulation…
  • A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1. [Case Reports]
    Immunogenetics. 2017 10; 69(10):643-651.Zhu W, Hu Z, … Zeng Z
  • Autoimmune polyendocrine syndrome type 1 (APS-1, OMIM 2403000) is a rare autosomal recessive disease that is caused by autoimmune regulator (AIRE). The main symptoms of APS-1 are chronic mucocutaneous candidiasis, autoimmune adrenocortical insufficiency (Addison's disease) and hypoparathyroidism. We collected APS-1 cases and analysed them. The AIRE genes of the patient and his family members were…
  • From Appearance of Adrenal Autoantibodies to Clinical Symptoms of Addison's Disease: Natural History. [Review]
    Front Horm Res. 2016; 46:133-45.Betterle C, Garelli S, … Furmaniak J
  • Recent progress in the immunopathology field has greatly improved our understanding of the natural history of autoimmune diseases, particularly of Addison's disease. Addison's disease is known to be a chronic illness characterized by adrenocortical gland insufficiency that develops following a long and mainly asymptomatic period, characterized by the presence of circulating autoantibodies directe…
  • Sarcoidosis Presenting Addison's Disease. [Case Reports]
    Intern Med. 2016; 55(9):1223-8.Takahashi K, Kagami S, … Iwamoto I
  • We herein describe a second Japanese case of sarcoidosis presenting Addison's disease. A 52-year-old man was diagnosed with sarcoidosis based on clinical and laboratory findings, including bilateral hilar lymphadenopathy and elevated levels of serum angiotensin-converting enzyme and lysozyme, as well as the presence of noncaseating epithelioid granulomas. The patient also exhibited general fatigu…
  • Ketoacidosis and adrenocortical insufficiency. [Case Reports]
    J Forensic Sci. 2014 Jul; 59(4):1146-52.Palmiere C, de Froidmont S, … Lobrinus JA
  • We herein report an autopsy case involving a 27-year-old Caucasian woman suffering from chronic adrenocortical insufficiency with a background of a polyendocrine disorder. Postmortem biochemistry revealed pathologically decreased aldosterone, cortisol, and dehydroepiandrosterone levels in postmortem serum from femoral blood as well as decreased cortisol and 17-hydroxycorticosteroid in urine. Decr…
  • Liver abnormalities and endocrine diseases. [Review]
    Best Pract Res Clin Gastroenterol. 2013 Aug; 27(4):553-63.Burra P
  • The liver and its pleotropic functions play a fundamental role in regulating metabolism, and is also an inevitable target of multiple metabolic disorders. The numerous and constant relationships and feedback mechanisms between the liver and all endocrine organs is reflected by the fact that an alteration of one oftentimes results in the malfunction of the other. Hypo- and hyperthyroidism are freq…
  • [Perioperative Addisonian crisis]. [Case Reports]
    Anaesthesist. 2012 Jun; 61(6):503-11.Martin C, Steinke T, … Raspé C
  • An Addisonian crisis marks an acute adrenocortical failure which can be caused by decompensation of a chronic insufficiency due to stress, an infarct or bleeding of the adrenal cortex and also abrupt termination of a long-term glucocorticoid medication. This article reports the case of a 25-year-old patient with Crohn's disease who suffered an Addisonian crisis with hypotension, hyponatriemia and…
  • History of the development of corticosteroid therapy. [Historical Article]
    Clin Exp Rheumatol. 2011 Sep-Oct; 29(5 Suppl 68):S-5-12.Benedek TG
  • The first clinical evidence that an extract of animal adrenocortical tissue could counteract human adrenal failure was demonstrated in 1930. As chemical analyses of cortical extracts proceeded, mainly in the laboratories of Kendall at the Mayo Clinic and Reichstein in Zurich, it became evident that there is not one cortical hormone, but that all are steroids. By 1940 it was understood that there …
  • Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy. [Case Reports]
    Clin Dev Immunol. 2010; 2010:586342.Al-Owain M, Kaya N, … Al-Muhsen S
  • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE). Terminal 4q deletion is also a rare cytogenetic abnormality that causes a variable syndrome of dysmorphic features, mental retardation, growth retardation, and heart and limb defects. We report a 12-year-old Saudi boy with muco…
  • Autoimmune Addison's disease. [Review]
    Endocr Dev. 2011; 20:161-172.Betterle C, Morlin L
  • Primary adrenocortical insufficiency, or Addison's disease (AD), results from an adrenal cortex hypofunction/dysfunction with a deficient production of glucocorticoids, mineralocorticoids and androgens, and with high levels of both ACTH and plasma renin activity. The prevalence of AD is 110-144 cases per million population in the developed countries. Autoimmune AD is the most frequent etiological…
  • [Apeced syndrome or autoimmune polyendocrine syndrome Type 1]. [Review]
    Presse Med. 2008 Jul-Aug; 37(7-8):1158-71.Proust-Lemoine E, Wémeau JL
  • Apeced syndrome is a rare disease, with autosomal recessive transmission and associated with mutations of the AIRE gene, which is involved in central and peripheral immune tolerance mechanisms. Its diagnosis is classically based on the combination of any two of the following three major criteria: chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune chronic adrenocortical insuffici…
  • [Addison's disease as a rare cause of chronically elevated liver enzymes]. [Case Reports]
    Z Gastroenterol. 2006 Feb; 44(2):179-83.Gurakuqi GC, Stadlbauer V, … Trauner M
  • Common causes of chronically elevated serum liver enzymes include fatty liver disease, chronic viral hepatitis, autoimmune hepatitis, or hereditary metabolic disorders. Adrenocortical insufficiency can also cause elevated liver enzymes. Since 1990 only 11 cases have been reported. We here report a 52-year-old man with elevated liver enzymes (1.5 x upper limit of normal) over the past 10 years. Fu…
  • A case of chronic adrenocortical insufficiency with iatrogenic anasarca. [Case Reports]
    Adv Ther. 2000 Mar-Apr; 17(2):68-9.Parlapiano C, Campana E, … Borgia MC
  • The decrease in active hormones that characterizes chronic adrenal insufficiency results in hypovolemia. In some patients, residual adrenal function, mineralocorticoid therapy, and concomitant heart or liver failure, or both, can paradoxically provoke edema. The case report that follows describes a patient with iatrogenically induced anasarca resulting from the unhappy confluence of usually appro…
  • Addison disease in patients treated with glucocorticoid therapy. [Case Reports]
    Arch Intern Med. 1997 Feb 24; 157(4):456-8.Cronin CC, Callaghan N, … Shanahan F
  • Acute adrenal crisis in patients with unrecognized chronic adrenocortical failure is difficult to diagnose and potentially fatal. We describe 2 patients with acute adrenal crisis whose diagnoses were hindered because of concomitant glucocorticoid treatment. Acute adrenal insufficiency is primarily a state of mineralocorticoid deficiency. Prednisolone and prednisone, the most frequently prescribed…
  • [Autoimmune Addison's disease. Current knowledge and prospects]. [Review]
    Minerva Endocrinol. 1996 Mar; 21(1):1-6.De Bellis A, Bizzarro A, … Bellastella A
  • Idiopathic Addison's disease (IAD) is a chronic organ-specific autoimmune disease sometimes associated with other autoimmune endocrine diseases. The prevalence is 50-100/million with an incidence of 5-6 cases/million/year. A genetic predisposition to this disease has been reported in subjects with phenotype HLA-DR3, -DR4, -A1, -B8 or HLA-A28, -B8; a phenotype HLA-B8 has been described in subjects…
  • Remission of subclinical adrenocortical failure in subjects with adrenal autoantibodies. [Journal Article]
    J Clin Endocrinol Metab. 1993 Apr; 76(4):1002-7.De Bellis A, Bizzarro A, … Bellastella A
  • Idiopathic Addison's disease is a chronic organ-specific autoimmune disorder with a long subclinical period characterized only by the presence of adrenal autoantibodies (AA) with or without adrenal function failure. The aim of this longitudinal study was to evaluate the behavior of AA using, an indirect fluorescence method, and adrenal function in 20 AA-positive and 50 AA-negative patients screen…
  • Hypercalcaemia in Addison's disease: calciotropic hormone profile and bone histology. [Case Reports]
    J Intern Med. 1992 Dec; 232(6):535-40.Montoli A, Colussi G, Minetti L
  • Three cases of hypercalcaemia secondary to acute adrenocortical insufficiency are described; all the patients had moderate to severe renal impairment, one being on chronic dialysis treatment with no residual diuresis. Parathyroid hormone (PTH) and 1,25 dihydroxyvitamin D [1,25(OH)2D] were low, indicating a suppressed PTH-vitamin D axis. In the two patients with partial renal impairment, urine Ca …
  • [Lipid peroxidation in patients with chronic adrenal cortex failure]. [Journal Article]
    Probl Endokrinol (Mosk). 1990 Jan-Feb; 36(1):37-40.Zelinskiĭ BA, Vlasenko MV
  • The investigation of 55 patients with chronic adrenocortical insufficiency has shown an increase in the intensity of lipid peroxidation against a background of blood plasma alpha-tocopherol (the main endogenous antioxidant) concentration. The use of vitamin E in multimodality treatment together with substitution hormone therapy resulted in the normalization of indices of lipid peroxidation and an…
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