المؤلفون: Haoyang Wang, MD, Karen Feghali, MD, Vybhav A. Jetty, MD, Artem Astsaturov, MD, Darren M. Evanchuk, MD, Uyen Lam, MD, Ann T. Sweeney, MD

المصدر: AACE Clinical Case Reports, Vol 7, Iss 6, Pp 353-356 (2021)

مصطلحات موضوعية: Addison’s disease, cardiac tamponade, intermittent pancytopenia, neutropenia, pericarditis, polyglandular autoimmune syndrome-type II, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

الوصف: Objective: To report the first case, to our knowledge, of intermittent pancytopenia and cardiac tamponade occurring together in association with Autoimmune Addison's Disease (AAD). Methods: A 21 year-old woman presented on three different occasions with multiple complaints. Her evaluation was significant for intermittent pancytopenia (white blood cell, 1.3-3.0 × 103/μL [normal 4.5-11 × 103]; hemoglobin, 8.8-9.6 g/dL [11-16]; and platelets, 102-117 × 103/μL [150-400 × 103/μL]) and pericardial effusion with cardiac tamponade. Further investigation including a morning serum cortisol level of 0.6 μg/dL (5.27-22.45 μg/dL), adrenocorticotropic hormone level of 1027 pg/mL (normal 6-50 pg/mL), and positive 21-hydroxylase antibodies confirmed the diagnosis of primary adrenal insufficiency due to AAD. Treatment with steroids resulted in prompt hemodynamic recovery with normalization of all blood cell lines. Results: The diagnosis of AAD is often delayed or overlooked. Pancytopenia occurring in AAD is most likely due to either marrow suppression in the setting of acute illness and exacerbated by hypoadrenalism or possibly an autoimmune-mediated marrow reaction. Pericarditis with cardiac tamponade has been described in AAD occurring in the setting of polyglandular autoimmune syndrome type II. The pathogenesis involves autoimmune inflammation of the pericardium, which precipitates an acute inflammatory reaction and rapid fluid accumulation. Conclusion: Pericarditis with cardiac tamponade and intermittent neutropenia may be rare manifestations of an Addisonian crisis.

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2376060521000675Test; https://doaj.org/toc/2376-0605Test

الوصول الحر: https://doaj.org/article/9042d9b440364ebfb5204c3b2b53d682Test

المؤلفون: Seo‐Young Hwang, Ju‐Hyun An, Jeong‐Hwa Lee, Su‐Min Park, Hyung Kyu Chae, Kyung‐Bo Kim, Woo‐Jin Song, Hwa‐Young Youn

المصدر: Veterinary Medicine and Science, Vol 7, Iss 6, Pp 2120-2123 (2021)

مصطلحات موضوعية: glomerular nephropathy, hyperadrenocorticism, inflammatory bowel disease, insulin‐dependent diabetes mellitus, polyglandular autoimmune syndrome, Veterinary medicine, SF600-1100

الوصف: Abstract Background Autoimmune polyendocrine syndrome, also called polyglandular autoimmune syndrome, is a rare immune‐mediated disorder that involves various endocrine glands. Purpose To report autoimmune polyendocrine syndrome in a dog. Methods A 9‐year‐old spayed female miniature poodle diagnosed with insulin‐dependent diabetes mellitus emergently visited our clinic for anorexia, severe depression, and vomiting. Hyponatremia, hypochloridemia, and recurrent hypoglycaemia were found. Hypoadrenocorticism was diagnosed based on consistent clinical signs and repeated adrenocorticotropic hormone stimulation tests. Results After injecting deoxycorticosterone pivalate and increasing the oral prednisolone dose, the patient's systemic condition improved. Conclusions To the best of our knowledge, this is the first case report of hypoadrenocorticism concurrent with diabetes mellitus in a dog. Furthermore, we would like to present the probability of an immune‐mediated disorder with multiple organs involved, like type IV autoimmune polyendocrine syndrome in humans.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2053-1095Test

الوصول الحر: https://doaj.org/article/18834aa147cb44a6b835549e16d76e2bTest

المؤلفون: Ameer Kakaje, Rama Awad

المصدر: Clinical Case Reports, Vol 8, Iss 12, Pp 2350-2352 (2020)

مصطلحات موضوعية: Addison's disease, Behcet's disease, celiac disease, Crohn's disease, hypothyroidism, polyglandular autoimmune syndrome, Medicine, Medicine (General), R5-920

الوصف: Abstract We are reporting a case report of Behcet's disease with autoimmune dysfunction that affected the thyroid and adrenal glands and the patient also had sub‐clinical celiac disease. However, the correlation between Bechet's disease and autoimmune disease is still controversial.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2050-0904Test

الوصول الحر: https://doaj.org/article/e65917f6184247eda59773bbd8561a37Test

المؤلفون: Hwang, Seo-Young, An, Ju-Hyun, Lee, Jeong-Hwa, Park, Su-Min, Kyu Chae, Hyung, Kim, Kyung-Bo, Song, Woo-Jin, Youn, Hwa-Young

المساهمون: Youn, Hwa-Young

مصطلحات موضوعية: ADDISONS-DISEASE, glomerular nephropathy, hyperadrenocorticism, inflammatory bowel disease, insulin-dependent diabetes mellitus, polyglandular autoimmune syndrome

الوصف: Background: Autoimmune polyendocrine syndrome, also called polyglandular autoimmune syndrome, is a rare immune-mediated disorder that involves various endocrine glands. Purpose: To report autoimmune polyendocrine syndrome in a dog. Methods: A 9-year-old spayed female miniature poodle diagnosed with insulin-dependent diabetes mellitus emergently visited our clinic for anorexia, severe depression, and vomiting. Hyponatremia, hypochloridemia, and recurrent hypoglycaemia were found. Hypoadrenocorticism was diagnosed based on consistent clinical signs and repeated adrenocorticotropic hormone stimulation tests. Results: After injecting deoxycorticosterone pivalate and increasing the oral prednisolone dose, the patient's systemic condition improved. Conclusions: To the best of our knowledge, this is the first case report of hypoadrenocorticism concurrent with diabetes mellitus in a dog. Furthermore, we would like to present the probability of an immune-mediated disorder with multiple organs involved, like type IV autoimmune polyendocrine syndrome in humans. ; Y ; 1

العلاقة: Veterinary Medicine and Science, Vol.7 No.6, pp.2120-2123; https://hdl.handle.net/10371/185054Test; 000692480700001; 2-s2.0-85114167033; 148773

الإتاحة: https://doi.org/10.1002/vms3.625Test
https://hdl.handle.net/10371/185054Test

المؤلفون: Kathrin Zopf, Kathrin R Frey, Tina Kienitz, Manfred Ventz, Britta Bauer, Marcus Quinkler

المصدر: Endocrine Connections, Vol 6, Iss 8, Pp 685-691 (2017)

مصطلحات موضوعية: adrenal insufficiency, adrenal crisis, cortisol, hydrocortisone, polyglandular autoimmune syndrome, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

الوصف: Context: Patients with primary adrenal insufficiency (PAI) or congenital adrenal hyperplasia (CAH) are at a high risk of adrenal crisis (AC). Glucocorticoid sensitivity is at least partially genetically determined by polymorphisms of the glucocorticoid receptor (GR). Objectives: To determine if a number of intercurrent illnesses and AC are associated with the GR gene polymorphism BclI in patients with PAI and CAH. Design and patients: This prospective, longitudinal study over 37.7 ± 10.1 months included 47 PAI and 25 CAH patients. During the study period, intercurrent illness episodes and AC were documented. Results: The study period covered 223 patient years in which 21 AC occurred (9.4 AC/100 pat years). There were no significant differences between BclI polymorphisms (CC (n = 29), CG (n = 34) and GG (n = 9)) regarding BMI, hydrocortisone equivalent daily dose and blood pressure. We did not find a difference in the number of intercurrent illnesses/patient year among BclI polymorphisms (CC (1.5 ± 1.4/pat year), CG (1.2 ± 1.2/pat year) and GG (1.6 ± 2.2/pat year)). The occurrence of AC was not significantly different among the homozygous (GG) genotype (32.5 AC/100 pat years), the CC genotype (6.7 AC/100 pat years) and the CG genotype (4.9 AC/100 pat years). Concomitant hypothyroidism was the highest in the GG genotype group (5/9), compared to others (CC (11/29) and CG (11/34)). Conclusions: Although sample sizes were relatively small and results should be interpreted with caution, this study suggests that the GR gene polymorphism BclI may not be associated with the frequencies of intercurrent illnesses and AC.

وصف الملف: electronic resource

العلاقة: http://www.endocrineconnections.com/content/6/8/685.fullTest; https://doaj.org/toc/2049-3614Test

الوصول الحر: https://doaj.org/article/d100989ad0ff45639de208921c66c9dcTest

المؤلفون: Dominique Endres, Patrick Süß, Simon J. Maier, Evelyn Friedel, Kathrin Nickel, Christiane Ziegler, Bernd L. Fiebich, Franz X. Glocker, Friedrich Stock, Karl Egger, Thomas Lange, Michael Dacko, Nils Venhoff, Daniel Erny, Soroush Doostkam, Katalin Komlosi, Katharina Domschke, Ludger Tebartz van Elst

المصدر: Frontiers in Immunology, Vol 10 (2019)

مصطلحات موضوعية: MELAS, mitochondrial disease, polyglandular autoimmune syndrome, ND4 gene, dysexecutive syndrome, Immunologic diseases. Allergy, RC581-607

الوصف: Background: Mitochondrial diseases are caused by dysfunctions in mitochondrial metabolic pathways. MELAS syndrome is one of the most frequent mitochondrial disorders; it is characterized by encephalopathy, myopathy, lactic acidosis, and stroke-like episodes. Typically, it is associated with a point mutation with an adenine-to-guanine transition at position 3243 of the mitochondrial DNA (mtDNA; m.3243A>G) in the mitochondrially encoded tRNA leucine 1 (MT-TL1) gene. Other point mutations are possible and the association with polyglandular autoimmune syndrome type 2 has not yet been described.Case presentation: We present the case of a 25-year-old female patient with dysexecutive syndrome, muscular fatigue, and continuous headache. Half a year ago, she fought an infection-triggered Addison crisis. As the disease progressed, she had two epileptic seizures and stroke-like episodes with hemiparesis on the right side. Cerebral magnetic resonance imaging showed a substance defect of the parieto-occipital left side exceeding the vascular territories with a lactate peak. The lactate ischemia test was clearly positive, and a muscle biopsy showed single cytochrome c oxidase-negative muscle fibers. Genetic testing of blood mtDNA revealed a heteroplasmic base exchange mutation in the mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 (MT-ND4) gene (m.12015T>C; p.Leu419Pro; heteroplasmy level in blood 12%, in muscle tissue: 15%). The patient suffered from comorbid autoimmune polyglandular syndrome type 2 with Hashimoto's thyroiditis, Addison's disease, and autoimmune gastritis. In addition, we found increased anti-glutamic acid decarboxylase 65, anti-partial cell, anti-intrinsic factor, and anti-nuclear antibodies.Conclusion: We present an atypical case of MELAS syndrome with predominant symptoms of a dysexecutive syndrome, two stroke-like episodes, and fast-onset fatigue. The symptoms were associated with a not yet described base and aminoacid exchange mutation in the MT-ND4 gene (m.12015T>C to p.Leu419Pro). The resulting changed protein complex in our patient is part of the respiratory chain multicomplex I and might be the reason for the mitochondriopathy. However, different simulations for pathogenetic relevance are contradictory and rather speak for a benign variant. To our knowledge this case report is the first reporting MELAS syndrome with comorbid polyglandular autoimmune syndrome type 2. Screening for autoimmune alterations in those patients is important to prevent damage to end organs.

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fimmu.2019.00412/fullTest; https://doaj.org/toc/1664-3224Test

الوصول الحر: https://doaj.org/article/a6dc33df1ba44dea8fe2b22e2358cb81Test

المؤلفون: Matteo Chinello, Margherita Mauro, Gaetano Cantalupo, Rita Balter, Massimiliano De Bortoli, Virginia Vitale, Ada Zaccaron, Elisa Bonetti, Rossella Gaudino, Elena Fiorini, Simone Cesaro

المصدر: Frontiers in Pediatrics, Vol 7 (2019)

مصطلحات موضوعية: polyglandular autoimmune syndrome type I, pure red cell aplasia (PRCA), hematopoietic stem cell transplantation (HCT), cerebellar hypoplasia, acute disseminated encephalomyelitis (ADEM), Pediatrics, RJ1-570

الوصف: The polyglandular autoimmune syndrome type I is a rare hereditary autosomal recessive disease. We describe a child with the classic triad of the disease and her sister with pure red cell aplasia and cerebellar hypoplasia. The latter received two haematopoietic stem cell transplantations, complicated by an acute disseminated encephalomyelitis.

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fped.2019.00051/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/74534a58c2b748a08db2b75c6c8d21caTest

المؤلفون: Boldyreva, Y. V., Lebedev, I. A., Kruchinin, E. V., Tarasov, D. O., Alekberov, R. I., Kozlov, M. V., Tyapkin, A. V., Solovyova, E. N., Yushina, K. A., Mokin, E. A., Болдырева, Ю. В., Лебедев, И. А., Кручинин, Е. В., Тарасов, Д. О., Алекберов, Р. И., Козлов, М. В., Тяпкин, А. В., Соловьева, Е. Н., Юшина, К. А., Мокин, Е. А.

مصطلحات موضوعية: POLYGLANDULAR AUTOIMMUNE SYNDROME TYPE I, CHILDREN, DIAGNOSTICS, DIFFICULTIES, ПОЛИГЛАНДУЛЯРНЫЙ АУТОИММУННЫЙ СИНДРОМ I ТИПА, ДЕТИ, ДИАГНОСТИКА, ТРУДНОСТИ

الوصف: Clinical observation of polyglandular autoimmune syndrome (PAS) type I in a 10-year-old child is presented. A feature of this case was the lack of adequate drug therapy in view of the fact that the child’s mother canceled it herself. This, in turn, made it difficult to implement adequate patient management tactics. Due to the progression of the disease, the child’s condition worsened, the quality of life significantly decreased. The article discusses questions about the complexity of diagnosis and the management of patients with type I PAS. ; Представлено клиническое наблюдение полигландулярного аутоиммунного синдрома (ПАС) I типа у ребенка 10 лет. Особенностью данного случая явилось отсутствие адекватной медикаментозной терапии в виду того, что мать ребенка ее отменяла самостоятельно. Это, в свою очередь, затрудняло осуществление адекватной тактики ведения пациента. Ввиду прогрессирования болезни состояние ребенка ухудшалось, значительно снижалось качество жизни. В статье обсуждаются вопросы о сложности диагностики и тактике ведения пациентов с ПАС I типа.

وصف الملف: application/pdf

العلاقة: Уральский медицинский журнал. 2019. Т. 174, № 6.; http://elib.usma.ru/handle/usma/12601Test

الإتاحة: http://elib.usma.ru/handle/usma/12601Test

المؤلفون: Chinello, Matteo, Mauro, Margherita, Cantalupo, Gaetano, Balter, Rita, De Bortoli, Massimiliano, Vitale, Virginia, Zaccaron, Ada, Bonetti, Elisa, Gaudino, Rossella, FIORINI, ELENA, Cesaro, Simone

المساهمون: Chinello, Matteo, Mauro, Margherita, Cantalupo, Gaetano, Balter, Rita, De Bortoli, Massimiliano, Vitale, Virginia, Zaccaron, Ada, Bonetti, Elisa, Gaudino, Rossella, Fiorini, Elena, Cesaro, Simone

مصطلحات موضوعية: acute disseminated encephalomyelitis (ADEM), cerebellar hypoplasia, hematopoietic stem cell transplantation (HCT), polyglandular autoimmune syndrome type I, pure red cell aplasia (PRCA)

الوصف: The polyglandular autoimmune syndrome type I is a rare hereditary autosomal recessive disease. We describe a child with the classic triad of the disease and her sister with pure red cell aplasia and cerebellar hypoplasia. The latter received two haematopoietic stem cell transplantations, complicated by an acute disseminated encephalomyelitis.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30863741; info:eu-repo/semantics/altIdentifier/wos/WOS:000459727000002; volume:7; firstpage:1; lastpage:7; numberofpages:7; journal:FRONTIERS IN PEDIATRICS; http://hdl.handle.net/11562/997277Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85064396228

الإتاحة: https://doi.org/10.3389/fped.2019.00051Test
http://hdl.handle.net/11562/997277Test

المؤلفون: Abdulraheem Abdullah Bahishwan, Rasheed Mohammed Bamekhlah, Mohammed Rasheed Bamekhlah

المصدر: Hamdan Medical Journal, Vol 12, Iss 3, Pp 137-139 (2019)

مصطلحات موضوعية: adrenal insufficiency, hypoparathyroidism, polyglandular autoimmune syndrome, Medicine

الوصف: A 32-year-old female patient diagnosed 3 years back as Addison's disease; she presented with vaginal candidiasis, oral thrush, fatigue and constipation, and the condition started since childhood and pre-puberty in succession. On examination, there were vitiligo and nail dystrophy. The investigations required done, which revealed hypoglycaemia, hypocalcaemia and hyperkalaemia; hormonal study gave a picture of primary adrenal and parathyroid insufficiency with euthyroidism. The patients finally proved to have mucosal candidiasis, primary hypoparathyroidism and Addison's disease with no thyroid abnormality. The case was diagnosed with autoimmune polyglandular syndrome (Type I).

العلاقة: http://www.hamdanjournal.org/article.asp?issn=2227-2437;year=2019;volume=12;issue=3;spage=137;epage=139;aulast=BahishwanTest; https://doaj.org/toc/2227-2437Test; https://doaj.org/toc/2227-247XTest; https://doaj.org/article/2c15285d28ef49a18ebff3cc2848bd74Test

الإتاحة: https://doi.org/10.4103/HMJ.HMJ_75_18Test
https://doaj.org/article/2c15285d28ef49a18ebff3cc2848bd74Test