Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011854 (type 1 diabetes)
 20,749 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Autoantibodies targeting the H+/K+-ATPase proton pump of the gastric parietal cell (parietal cell antibodies [PCA]) are diagnostic of atrophic body gastritis (ABG) leading to pernicious anemia (PA). PCA, ABG, and PA occur in increased frequency in patients with type 1 diabetes and their relatives and are considered "minor" components of forms of autoimmune polyglandular syndrome (APS). A customized radioimmunoprecipitation assay was applied to 6,749 samples from the Type 1 Diabetes Genetics Consortium to measure ATP4A autoreactivity. Autoantibody prevalence was correlated with variants in HLA class II, PTPN22, and CTLA4 genes. With an ATP4A radioimmunoprecipitation assay, PCA were detected in sera from 20.9% of affected individuals. PCA prevalence increased with age and was greater in females (25.3%) than males (16.5%) and among Hispanics (36.3%) and blacks (26.2%) compared with non-Hispanic whites (20.8%) and Asians (16.7%). PCA and other organ-specific autoantibodies GAD65, IA-2, thyroid peroxidase (TPO), 21-hydroxylase (21-OH), and transglutaminase (TG) clustered within families with heritability estimates from 71 to 95%. PCA clustered with TPO, 21-OH, and persistent GAD65 autoantibodies but not with celiac (TG) or IA-2 autoantibodies. PCA-positive subjects showed an increased frequency of DRB1*0404, DPB1*0201, and PTPN22 R620W (rs2476601-T) and a decreased frequency of DRB1*0101, DPB1*0301, and CTLA4 CT60 (rs3087243-T). Genetic variants accounted for 4-5% of the heritable risk for PCA. The same alleles were associated with other autoantibody phenotypes in a consistent pattern. Whereas most of the heritable risk for PCA and other antibodies reflects genetic effects that are tissue specific, parietal cell autoimmunity is a major pathogenetic contributor in APS2.
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PMID:ATPase4A Autoreactivity and Its Association With Autoimmune Phenotypes in the Type 1 Diabetes Genetics Consortium Study. 2640 69

Autoimmune polyglandular syndrome type 2 also known as Schmidt syndrome. It is a rare disorder involving a combination of Addison's disease with autoimmune thyroid disease with or without type 1 diabetes mellitus. In this case report one such patient with this rare syndrome is described who presented with hyperpigmentation of knuckles, palms and soles with significant weight loss for 2 months. At presentation she also had severe hypercalcaemia. Severe hypercalcaemia is rare and hypercalcaemia at the initial presentation of Addison's disease is also unusual. The mechanism of hypercalcaemia in addisons and management of this patient is discussed.
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PMID:Schimidt Syndrome: An Unusual Cause of Hypercalcaemia. 2743 84

Objective: To illustrate how steroid replacement in adrenal insufficiency can influence the development of hypoglycemia in a patient with type 1 diabetes mellitus (T1D). Methods: We describe the case of a 36-year-old female patient with T1D and Addison's disease (Schmidt's syndrome) on multiple daily insulin injections who presented with recurrent hypoglycemia despite being on physiological replacement doses of hydrocortisone. Results: With the assistance of continuous glucose monitoring technology, a pattern of nocturnal hypoglycemia was clearly identified. The patient was taking her hydrocortisone 15 mg in the morning and 5 mg in the early afternoon. With the short half-life of oral hydrocortisone, the evening decline in plasma cortisol concentration led to an increased susceptibility to recurrent evening and nocturnal hypoglycemia. Hypoglycemic episodes were resolved when her morning hydrocortisone dose was changed and prednisolone was added to a later time in the evening. Conclusion: Patients with Schmidt's syndrome can be susceptible to nocturnal hypoglycemia with inadequate steroid replacement. Identifying patients at risk for hypoglycemia in Schmidt's syndrome provides an opportunity for precision management beyond the manipulation of antihyperglycemic agents.
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PMID:The Yin and Yang Between Plasma Glucose Levels and Cortisol Replacement Therapy in Schmidt's Syndrome. 2874 91

We report on a boy of Albanian descent with the history of juvenile myelomonocytic leukemia (JMML). JMML was diagnosed at the age of 17 months and treated by hematopoietic stem cell transplantation (HSCT). At the age of 14.3 years, about 12 years after HSCT, he was hospitalized with an adrenal crisis. Hormone findings were consistent with primary adrenal insufficiency. Autoimmune adrenalitis was confirmed by positive autoantibodies against 21-hydroxylase and adrenal tissue. Since autoimmune Hashimoto thyroiditis was already known from the age of 9 years, we assume that both diseases are part of the spectrum of autoimmune polyglandular syndrome (APS) type 2. APS type 2 is a rare endocrine disease characterized by Addison's disease along with autoimmune thyroid disease and/or type 1 diabetes.
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PMID:Adrenal crisis in a 14-year-old boy 12 years after hematopoietic stem cell transplantation. 2989 90

The coexistence of adrenal failure with either autoimmune thyroid disease and/or type 1 diabetes is defined as autoimmune polyglandular syndrome (APS) type 2 or Schmidt's syndrome. Vitiligo, hypergonadotropic hypogonadism, chronic autoimmune hepatitis, alopecia, pernicious anaemia and seronegative arthritis may also be present. We present a case of 45-year-old Indian man with progressive jaundice and asthenia for 3 months. He was also found to have pallor, icterus, dry coarse skin and delayed relaxation of ankle jerk. Investigations showed pancytopaenia with megaloblastic changes due to pernicious anaemia, autoimmune hypothyroidism and autoimmune adrenalitis with evolving adrenal insufficiency. Upper gastrointestinal endoscopy guided biopsy showed evidence of gastric mucosal atrophy. Patient responded well to hydroxocobalamin and thyroxine replacement. Detailed workup to check for evolving APS II is prudent in a hypothyroid patient presenting with pallor and jaundice. It may alert physicians to possible adrenal crisis in the future, especially after starting levothyroxine replacement in these patients.
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PMID:Jaundice and anaemia as presenting features of an incomplete autoimmune polyglandular syndrome type II. 3096 12

Background Autoimmune polyglandular syndrome type II (APS II) is defined as the combination of autoimmune adrenal insufficiency and autoimmune thyroid disease (AITD) and/or type I diabetes mellitus (T1DM) in the same patient. Case presentation A 15-year-old boy had a history of weight loss, nausea and vomiting, headache, restlessness, and tanned skin. He was diagnosed with Graves' disease. Two weeks after carbimazol therapy was commenced, he presented with adrenal crises (fever, arterial hypotension, hyponatremia, adrenocorticotropic hormone [ACTH] 1119.6 ng/mL [normal range <60] and low cortisol). He received hydrocortisone and fludrocortisone, and improved quickly. Thyroid-stimulating hormone (TSH) receptor autoantibodies as well as 21-hydroxylase antibodies were elevated. Conclusions Although the combination of Graves' and Addison's disease is extremely rare, especially in children, it is critical to make the diagnosis. Accelerated metabolic rate increased the risk for adrenal crises in our patient. This case contributes to the spectrum of APS II and its manifestation.
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PMID:Autoimmune polyglandular syndrome type II with co-manifestation of Addison's and Graves' disease in a 15-year-old boy: case report and literature review. 3211 2

Autoimmune polyendocrine syndrome type II (APS II) is a rare endocrine disorder that involves the adrenal gland (Addison's disease), thyroid (autoimmune thyroiditis), pancreas (type 1 diabetes), and other non-endocrine organs. Herein, we report a case of a 58-year-old woman with a past medical history of systemic lupus erythematosus (SLE) and Addison's disease, who initially presented with nocturia, polyuria, abnormal sweating, fatigue, hair thinning, heat and cold intolerance, and progressive darkening of the skin for the last few months. After a thorough evaluation, she was diagnosed with autoimmune thyroiditis, and thus, she met the criteria for APS II. This report highlights the unusual presentation of APS II in a patient with SLE. We also discuss common pathophysiological mechanisms that can explain the concurrence of SLE and APS II in this patient.
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PMID:Co-Occurrence of Systemic Lupus Erythematosus and Autoimmune Polyendocrine Syndrome II: Is There a Pathologic Link? 3326 18


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