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1.
Eur J Endocrinol ; 182(3): C9-C12, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31972544

RESUMO

Primary adrenal insufficiency (PAI) in children is mostly due to genetic defects. The understanding of the molecular genetics of the causes of adrenal insufficiency in the pediatric population has made significant progress during the last years. It has been shown that inherited PAI can lead to certain clinical manifestations and health problems in children beyond the adrenals. Organ dysfunctions associated with different forms of PAI in children include a wide range of organs such as gonads, brain, heart, bone, growth, bone marrow, kidney, skin, parathyroid, and thyroid. Diagnosing the correct genetic cause of PAI in children is therefore crucial to adequately control long-term treatment and follow-up in such patients.


Assuntos
Doença de Addison/genética , Hiperplasia Suprarrenal Congênita/genética , Doença de Addison/complicações , Doença de Addison/diagnóstico , Doença de Addison/fisiopatologia , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/fisiopatologia , Doenças do Desenvolvimento Ósseo/etiologia , Doenças do Desenvolvimento Ósseo/genética , Doenças do Desenvolvimento Ósseo/fisiopatologia , Encefalopatias/etiologia , Encefalopatias/genética , Encefalopatias/fisiopatologia , Cardiomiopatias/etiologia , Cardiomiopatias/genética , Cardiomiopatias/fisiopatologia , Transtornos do Desenvolvimento Sexual/etiologia , Transtornos do Desenvolvimento Sexual/genética , Transtornos do Desenvolvimento Sexual/fisiopatologia , Transtornos do Crescimento/etiologia , Transtornos do Crescimento/genética , Transtornos do Crescimento/fisiopatologia , Humanos , Hipoadrenocorticismo Familiar/complicações , Hipoadrenocorticismo Familiar/diagnóstico , Hipoadrenocorticismo Familiar/genética , Hipoadrenocorticismo Familiar/fisiopatologia , Síndromes de Imunodeficiência/etiologia , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/fisiopatologia , Técnicas de Diagnóstico Molecular , Síndrome Nefrótica/etiologia , Síndrome Nefrótica/genética , Síndrome Nefrótica/fisiopatologia , Dermatopatias/etiologia , Dermatopatias/genética , Dermatopatias/fisiopatologia
3.
BMJ Case Rep ; 12(8)2019 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-31420419

RESUMO

Addison's disease is a common endocrinopathy often diagnosed in patients presenting with hyponatraemia. Cerebellar ataxia as a presentation of hyponatraemia is extremely rare. A 42-year-old man presented with vomiting, fever, ataxic gait and scanning type of dysarthria. Clinical examination revealed signs suggestive of isolated cerebellar involvement. Patient was found to have severe hyponatraemia and serum cortisol was found to be extremely low while MRI brain was found to be normal. Corticosteroid therapy was initiated and cerebellar ataxia was resolved following normalisation of sodium levels.


Assuntos
Doença de Addison/diagnóstico , Ataxia Cerebelar/diagnóstico , Hiponatremia/diagnóstico , Doença de Addison/complicações , Adulto , Ataxia Cerebelar/complicações , Diagnóstico Diferencial , Humanos , Hiponatremia/etiologia , Masculino
4.
Eur J Endocrinol ; 181(1): 39-44, 2019 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-31075757

RESUMO

Background: In patients suffering from primary adrenal insufficiency (AI) mortality is increased despite adequate glucocorticoid (GC) and mineralocorticoid (MC) replacement therapy, mainly due to an increased cardiovascular risk. Since activation of the renin-angiotensin-aldosterone system (RAAS) plays an important role in the modulation of cardiovascular risk factors, we performed in-depth characterization of the RAAS activity. Methods: Eight patients with primary AI (female = 5; age: 56 ± 21 years; BMI: 22.8 ± 2 kg/m2; mean blood pressure: 140/83 mmHg; hydrocortisone dose: 21.9 ± 5 mg/day; fludrocortisone dose: 0.061 ± 0.03 mg/day) and eight matched healthy volunteers (female = 5; age: 52 ± 21 years; BMI: 25.2 ± 4 kg/m2; mean blood pressure:135/84 mmHg) were included in a cross-sectional case-control study. Angiotensin metabolite profiles (RAS-fingerprints) were performed by liquid chromatography mass spectrometry. Results: In patients suffering from primary AI, RAAS activity was highly increased with elevated concentrations of renin concentration (P = 0.027), angiotensin (Ang) I (P = 0.022), Ang II (P = 0.032), Ang 1-7 and Ang 1-5. As expected, aldosterone was not detectable in the majority of AI patients, resulting in a profoundly suppressed aldosterone-to-AngII ratio (AA2 ratio, P = 0.003) compared to controls. PRA-S, the angiotensin-based marker for plasma renin activity, correlated with plasma renin activity (r = 0.983; P < 0.01) and plasma renin concentration (r = 0.985; P < 0.001) and was significantly increased in AI patients. Conclusions: AI is associated with a unique RAAS profile characterized by the absence of aldosterone despite strongly elevated levels of angiotensin metabolites, including the potent vasoconstrictor AngII. Despite state-of-the-art hormone replacement therapy, the RAAS remains hyperactivated. The contribution of Ang II in cardiovascular diseases in AI patients as well as a potential role for providing useful complementary information at diagnosis and follow up of AI should be investigated in future trials.


Assuntos
Doença de Addison/fisiopatologia , Aldosterona/fisiologia , Sistema Renina-Angiotensina/fisiologia , Doença de Addison/complicações , Hormônio Adrenocorticotrópico/sangue , Adulto , Idoso , Aldosterona/sangue , Angiotensina II/sangue , Angiotensinas/sangue , Pressão Sanguínea , Índice de Massa Corporal , Doenças Cardiovasculares/etiologia , Estudos de Casos e Controles , Estudos Transversais , Feminino , Humanos , Hidrocortisona/sangue , Masculino , Pessoa de Meia-Idade , Renina/sangue , Fatores de Risco
5.
BMJ Case Rep ; 12(4)2019 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-30962212

RESUMO

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.


Assuntos
Doença de Addison/complicações , Anemia Perniciosa/complicações , Poliendocrinopatias Autoimunes/complicações , Poliendocrinopatias Autoimunes/diagnóstico , Doença de Addison/tratamento farmacológico , Anemia Perniciosa/tratamento farmacológico , Doença de Hashimoto/complicações , Humanos , Icterícia/etiologia , Masculino , Pessoa de Meia-Idade , Poliendocrinopatias Autoimunes/sangue , Poliendocrinopatias Autoimunes/tratamento farmacológico , Síndrome , Tireoidite Autoimune/complicações , Tiroxina/administração & dosagem , Vitamina B 12/administração & dosagem , Complexo Vitamínico B/administração & dosagem
7.
J Clin Endocrinol Metab ; 104(3): 779-784, 2019 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-30383218

RESUMO

Context: Two tyrosine kinase inhibitors (TKIs), lenvatinib and vandetanib, are often used to treat advanced radioiodine-refractory differentiated thyroid cancer (RAI-R DTC) and medullary thyroid cancer (MTC), respectively. Fatigue is a common adverse event during treatment with these and other TKIs and a common cause of drug discontinuation or dosage reduction. Cases Description: We evaluated the basal and stimulated adrenal function in 12 patients with advanced RAI-R DTC and MTC treated with lenvatinib or vandetanib, respectively. Ten patients complaining of fatigue showed a progressive ACTH increase with normal cortisol levels. Moreover, six of 10 patients had a blunted cortisol response after ACTH stimulation, thus confirming the diagnosis of primary adrenal insufficiency (PAI). The causal relationship between TKIs and PAI onset was also demonstrated by the repeated testing of adrenal function before and during treatment. Patients with PAI received cortisone acetate replacement therapy, with a substantial and prompt improvement in the degree of fatigue, as assessed by the Common Terminology Criteria for Adverse Events version 4.03, thus supporting the major impact of impaired adrenal function in the genesis of this adverse event. Conclusions: We show that the occurrence of PAI may be a common cause of fatigue during lenvatinib and vandetanib treatment, and we therefore recommend testing adrenal function for a prompt start of replacement therapy to avoid treatment discontinuation, dosage reduction, and potentially severe PAI complications.


Assuntos
Doença de Addison/induzido quimicamente , Cortisona/uso terapêutico , Fadiga/tratamento farmacológico , Compostos de Fenilureia/efeitos adversos , Piperidinas/efeitos adversos , Inibidores de Proteínas Quinases/efeitos adversos , Quinazolinas/efeitos adversos , Quinolinas/efeitos adversos , Doença de Addison/complicações , Doença de Addison/tratamento farmacológico , Adulto , Idoso , Carcinoma Neuroendócrino/tratamento farmacológico , Criança , Relação Dose-Resposta a Droga , Fadiga/etiologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Compostos de Fenilureia/administração & dosagem , Piperidinas/administração & dosagem , Inibidores de Proteínas Quinases/administração & dosagem , Quinazolinas/administração & dosagem , Quinolinas/administração & dosagem , Neoplasias da Glândula Tireoide/tratamento farmacológico , Resultado do Tratamento , Adulto Jovem
9.
BMJ Case Rep ; 20182018 Nov 08.
Artigo em Inglês | MEDLINE | ID: mdl-30413457

RESUMO

A 30-year-old woman with polyglandular autoimmune type 2 syndrome was found collapsed at home with a cardiac arrest, which required direct current cardioversion. On admission, she was hypothermic, hypotensive and bradycardic. Initial biochemical investigations were consistent with a pre-renal acute kidney injury, metabolic acidosis and a possible sepsis. She had significantly elevated thyroid-stimulating hormone levels on admission with the clinical profile consistent with dual Addisonian and myxoedema crisis. She received intravenous liothyronine and hydrocortisone along with supportive therapy. Echo showed severe left ventricular impairment with apical ballooning although coronary angiogram disclosed nothing abnormal. She made a gradual recovery and was discharged home after 2 weeks. She was diagnosed to have primary autoimmune hypothyroidism, Addison's diseaseand type 1 diabetes and coeliac disease in October 2006, July 2007, May 2010 and September 2016, respectively. Her inability to stick to gluten-free diet at her workplace was considered a significant contributory factor for out-of-hospital cardiac arrest.


Assuntos
Doença de Addison/complicações , Doença Celíaca/complicações , Diabetes Mellitus Tipo 1/complicações , Doença de Hashimoto/complicações , Poliendocrinopatias Autoimunes/complicações , Tireoidite Autoimune/complicações , Doença de Addison/diagnóstico , Doença de Addison/tratamento farmacológico , Agonistas Adrenérgicos beta/uso terapêutico , Adulto , Anti-Inflamatórios/uso terapêutico , Doença Celíaca/diagnóstico , Doença Celíaca/dietoterapia , Diabetes Mellitus Tipo 1/tratamento farmacológico , Dieta Livre de Glúten , Cardioversão Elétrica , Feminino , Doença de Hashimoto/diagnóstico , Doença de Hashimoto/tratamento farmacológico , Parada Cardíaca/diagnóstico , Parada Cardíaca/etiologia , Parada Cardíaca/terapia , Humanos , Hidrocortisona/uso terapêutico , Isoproterenol/uso terapêutico , Poliendocrinopatias Autoimunes/diagnóstico , Poliendocrinopatias Autoimunes/tratamento farmacológico , Tireoidite Autoimune/diagnóstico , Tireoidite Autoimune/tratamento farmacológico , Tri-Iodotironina/uso terapêutico
10.
Scand J Occup Ther ; 25(5): 358-370, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30280621

RESUMO

People with rare diseases are a minority group that faces risks for healthcare and work inequities because knowledge and resources on how to systematically support health or working life are limited. Integrating voices of persons living with rare diseases are an important aspect in inclusive and relevant healthcare practices. This study sought to actively involve persons with autoimmune Addison's disease (AAD), a rare condition, in exploring challenges and possibilities situated in everyday life. Photovoice methods were utilized to incorporate experiences through photographic documentation and group discussions with five persons over seven weeks. Data generated from group sessions were visually analyzed or transcribed and analyzed with thematic analysis. Five themes emerged: Individual and fine tuning in everyday life; It is not how it was; The power of knowledge and support; Becoming the expert in an uncertain context; and, Finding balance and paving new ways. The findings showed that everyday life with AAD was more complex than earlier portrayed; entailing several barriers and negotiations. In order to meet the needs of persons with AAD, more extensive and relevant information, support and self-management education is needed. Moreover, a complementary focus on everyday life to promote their health and wellbeing is also important.


Assuntos
Atividades Cotidianas , Doença de Addison , Fotografação , Doença de Addison/complicações , Adulto , Idoso , Pesquisa Participativa Baseada na Comunidade , Feminino , Grupos Focais , Humanos , Masculino , Pessoa de Meia-Idade , Determinação de Necessidades de Cuidados de Saúde
11.
BMJ Case Rep ; 20182018 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-29507013

RESUMO

A 67-year-old Caucasian woman with no prior medical history was admitted to our hospital with complaints of generalised weakness, nausea, diarrhoea and weight loss. The patient suffered from tachycardia and hypotension. Blood tests revealed Graves' thyrotoxicosis and the patient was treated accordingly. However, patient's health continued to decline rapidly and further tests revealed a concomitant Addisonian crisis. Additional treatment with corticosteroids led to a full recovery. It is well known that autoimmune endocrine disorders tend to cluster. However, the presentation is usually sequential in time. This case reports the highly rare simultaneous presentation of Addison's disease and Graves' thyrotoxicosis. It also provides several suggestions to help establish the diagnoses.


Assuntos
Doença de Addison/complicações , Doença de Graves/complicações , Tireotoxicose/complicações , Doença de Addison/sangue , Doença de Addison/diagnóstico , Hormônio Adrenocorticotrópico/sangue , Idoso , Biomarcadores/sangue , Nitrogênio da Ureia Sanguínea , Creatinina/sangue , Feminino , Doença de Graves/diagnóstico , Humanos , Tireotoxicose/diagnóstico
12.
Osteoporos Int ; 29(7): 1675-1678, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29594318

RESUMO

Patients with Addison's disease are at greater risk of having reduced bone mineral density and hip fractures and are thus more likely to receive a bisphosphonate than their peers. Potent intravenous bisphosphonates could provoke an acute phase reaction. An 80-year-old female with Addison's disease received her first infusion of zoledronic acid for osteoporosis at our outpatient clinic around noon. Despite doubling her usual afternoon hydrocortisone dose, she became feverish, nauseous, extremely weak, and hypotensive over the night. When transported to the nearest general hospital the next morning, the patient was found to have signs of hypovolemic shock and she was admitted to the ICU. Crystalloid infusion, followed by dobutamine and norepinephrine drip, had no effect. Only after her European emergency card for glucocorticoid cover was found, adrenal crisis was recognized, and she was immediately given an intravenous bolus of hydrocortisone followed by continuous hydrocortisone infusion. The patient rapidly improved and was transferred to a regular ward the next day, where hydrocortisone dose was gradually tapered. Our experience might suggest that patients with Addison's disease should probably start their treatment with zoledronic acid in a hospital setting. Their usual oral dose of hydrocortisone should be doubled or even tripled. Careful monitoring of these patients seems to be warranted, and intravenous hydrocortisone should be given if any symptoms or signs of the imminent adrenal crisis are noted.


Assuntos
Reação de Fase Aguda/etiologia , Doença de Addison/complicações , Conservadores da Densidade Óssea/efeitos adversos , Ácido Zoledrônico/efeitos adversos , Doença Aguda , Reação de Fase Aguda/induzido quimicamente , Doença de Addison/tratamento farmacológico , Idoso de 80 Anos ou mais , Feminino , Humanos , Hidrocortisona/uso terapêutico , Osteoporose Pós-Menopausa/complicações , Osteoporose Pós-Menopausa/tratamento farmacológico
13.
Nutrition ; 49: 66-73, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29522979

RESUMO

OBJECTIVES: On the basis of the immunomodulatory actions of vitamin D (VD), we investigated the effects of high-dose VD therapy over a 3 mo period on the immune response in patients with Addison's disease (AD). METHODS: This randomized, controlled, crossover trial included 13 patients with AD who received either cholecalciferol (4000 IU/d) for 3 mo followed by 3 mo placebo oil or the sequential alternative placebo followed by verum. Glucocorticoid replacement doses remained stable. The primary outcome measures were changes in 25-hydroxyvitamin D3 (25(OH)D3) levels and immune cells including T helper cells (Th; CD3+CD4+), late-activated Th cells (CD3+CD4+HLA-DR+), regulatory T cells (CD3+CD4+CD25brightCD127dim/neg), cytotoxic T cells (Tc; CD3+CD8+), late-activated Tc cells (CD3+CD8+HLA-DR+), and monocytes. The explorative analysis included the correlation of changes with VD-related gene polymorphisms and 21-hydroxylase antibody titers. RESULTS: Ten of 13 patients (77%) were VD deficient. Median 25(OH)D3 concentrations increased significantly to 41.5 ng/ml (median changes: 19.95 ng/ml; P = 0.0005) after 3 mo of cholecalciferol treatment. Within the T-cells, only the late-activated Th (median changes: 1.6%; P = 0.02) and late-activated Tc cells (median changes: 4.05%; P = 0.03) decreased, whereas monocytes (median changes: 1.05%; P = 0.008) increased after VD therapy. T-cell changes were associated with two polymorphisms (CYP27B1-rs108770012 and VDR-rs10735810), but no changes in the 21-hydroxylase antibody titers were observed. CONCLUSIONS: Three months of treatment with cholecalciferol achieved sufficient 25(OH)D3 levels and can regulate late-activated T-cells and monocytes in patients with AD. Explorative analysis revealed potential genetic contributions. This pilot trial provides novel insights about immunomodulation in AD.


Assuntos
Doença de Addison/tratamento farmacológico , Colecalciferol/administração & dosagem , Deficiência de Vitamina D/tratamento farmacológico , Vitaminas/administração & dosagem , Doença de Addison/sangue , Doença de Addison/complicações , Adulto , Calcifediol/sangue , Estudos Cross-Over , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Monócitos/efeitos dos fármacos , Projetos Piloto , Linfócitos T Reguladores/efeitos dos fármacos , Resultado do Tratamento , Deficiência de Vitamina D/sangue , Deficiência de Vitamina D/etiologia
14.
Clin Chem Lab Med ; 56(6): 896-900, 2018 05 24.
Artigo em Inglês | MEDLINE | ID: mdl-29478039

RESUMO

Autoimmune Addison's disease (AAD) is the most frequent cause of adrenocortical insufficiency. The natural history of AAD usually comprises five consecutive stages with the first stage characterized by the increase of plasma renin consistent with the impairment of pars glomerulosa, which is usually the first affected layer of the adrenal cortex. We describe a 19-year-old female with Hashimoto's thyroiditis (HT) who underwent an autoantibody screening due to having the personal and family history of other autoimmune diseases in the absence of relevant clinical manifestations. She was positive for adrenal cortex autoantibodies (ACA) and steroid 21-hydroxylase autoantibodies (21-OH Ab) at high titers. She had increased basal levels of ACTH with normal basal cortisol not responding to ACTH stimulation, reduced levels of dehydroepiandrosterone-sulfate but normal levels of orthostatic renin and aldosterone. This scenario was consistent with a subclinical AAD presenting with first impairments in pars fasciculata and reticularis and conserved pars glomerulosa function. Only subsequently, progressive deficiency in pars glomerulosa function has become evident. Review of the literature showed that there was only one case, reported to date, with a similar atypical natural history of AAD. The strategies for screening for ACA/21-OH Ab in patients with HT are discussed.


Assuntos
Doença de Addison/fisiopatologia , Doenças Autoimunes/fisiopatologia , Doença de Addison/complicações , Doença de Addison/imunologia , Córtex Suprarrenal/imunologia , Hormônio Adrenocorticotrópico/sangue , Adulto , Autoanticorpos/sangue , Autoanticorpos/imunologia , Doenças Autoimunes/imunologia , Sulfato de Desidroepiandrosterona/sangue , Feminino , Doença de Hashimoto/complicações , Doença de Hashimoto/imunologia , Humanos , Hidrocortisona/sangue , Esteroide 21-Hidroxilase/imunologia , Adulto Jovem
15.
Pan Afr Med J ; 30: 251, 2018.
Artigo em Francês | MEDLINE | ID: mdl-30627312

RESUMO

Recent studies conducted in patients with Addison's disease (AD) highlighted that this disease, even after treatment, is a significant cause of morbi-mortality. This study aims to determine the cardiovascular and metabolic deleterious impact of long-course glucocorticoid substitution therapy. We conducted a retrospective study of 28 patients with treated Addison's disease evolving for more than 15 years. The average age of patients was 58, 53 years, with a female predominance (65%). The average follow-up period was 17, 87 years. Initial dose of hydrocortisone was 32, 5 mg/day (20.52 mg/m2) and 27, 9 mg/day (16,41mg/m2) at the time of the study. The prevalence of the metabolic syndrome (MS) in patients with AM was 35.71% after a period of treatment longer than 15 years. At the end of the follow-up period, 28.57% of patients were obese; 25% of patients had developed AH (arterial hypertension) and type 2 diabetes. The prevalence of dyslipidemia went from 3.57% to 42.85%. Only one patient had myocardial infarction at 25-year follow-up. Factors favoring the onset of MS in our study were history of disease and weight loss at the moment of diagnosis. Adjustment of substitution therapy is a challenge in patients with Addison's disease due to morbi-mortality associated with overdose. A regular follow-up and a personalized therapeutic approach are necessary to improve patients' prognosis.


Assuntos
Doença de Addison/tratamento farmacológico , Glucocorticoides/administração & dosagem , Hidrocortisona/administração & dosagem , Doença de Addison/complicações , Adulto , Idoso , Idoso de 80 Anos ou mais , Diabetes Mellitus Tipo 2/epidemiologia , Relação Dose-Resposta a Droga , Dislipidemias/epidemiologia , Feminino , Seguimentos , Glucocorticoides/efeitos adversos , Terapia de Reposição Hormonal/métodos , Humanos , Hidrocortisona/efeitos adversos , Hipertensão/epidemiologia , Masculino , Síndrome Metabólica/epidemiologia , Pessoa de Meia-Idade , Prevalência , Prognóstico , Estudos Retrospectivos , Fatores de Tempo
16.
Clin Chem Lab Med ; 56(6): 933-938, 2018 05 24.
Artigo em Inglês | MEDLINE | ID: mdl-29267164

RESUMO

BACKGROUND: A new ELISA for autoantibodies to steroid 21-hydroxylase (21-OH Ab) is described. METHODS: In the assay test sample autoantibodies form a bridge between 21-OH coated onto the plate well and liquid phase 21-OH-biotin. Bound 21-OH-biotin is detected by the addition of streptavidin peroxidase and colorogenic peroxidase substrate. RESULTS: Of 100 samples from patients with autoimmune Addison's disease, 86 (86%) were positive for 21-OH Ab ELISA whereas 84 (84%) were positive in an immunoprecipitation assay based on 125I-labeled 21-OH. Six (0.6%) of 928 healthy adult blood donors and 1 (2.0%) of 49 adult patients with type 1 diabetes mellitus (T1DM) were positive by ELISA. No samples from adult patients with Graves' disease (GD; n=50), celiac disease (n=29), systemic lupus erythematosis (n=9) or rheumatoid arthritis (n=20) were positive by ELISA. However, 2/51 (3.9%) children with GD, 3/69 (4.3%) children with Hashimoto's thyroiditis (HT) and 3/119 (2.5%) children with T1DM alone or associated with autoimmune thyroid disorders were ELISA positive. CONCLUSIONS: The new assay should be useful for screening patients known to be at increased risk of developing clinical autoimmune Addison's disease, in particular children with HT, GD and/or T1DM.


Assuntos
Doença de Addison/diagnóstico , Autoanticorpos/análise , Ensaio de Imunoadsorção Enzimática/métodos , Esteroide 21-Hidroxilase/imunologia , Doença de Addison/complicações , Adolescente , Adulto , Idoso , Estudos de Casos e Controles , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
17.
J Pediatr Endocrinol Metab ; 31(1): 101-105, 2018 01 26.
Artigo em Inglês | MEDLINE | ID: mdl-29252198

RESUMO

BACKGROUND: Polyglandular autoimmune syndrome (PGA) and eosinophilic granulomatosis with polyangiitis (EGPA) do not seem to represent a coincidental association. CASE PRESENTATION: A case of a 15-year-old boy is reported who presented with severe systemic inflammation, perimyocarditis and cardiogenic shock, in whom EGPA was initially suspected and later diagnosed with autoimmune adrenalitis with PGA. CONCLUSIONS: The severity of the systemic inflammation and perimyocarditis suggests a more widespread autoimmune-mediated process. Autoimmune adrenal insufficiency should be considered in all cases of pericarditis and perimyocarditis, especially when the severity of clinical manifestations exceeds the expected for the severity of the cardiac findings, as timely identification and prompt treatment may be life-saving.


Assuntos
Doença de Addison/diagnóstico , Miocardite/diagnóstico , Pericardite/diagnóstico , Pericárdio/patologia , Doença de Addison/complicações , Adolescente , Humanos , Masculino , Miocardite/etiologia , Pericardite/etiologia , Prognóstico
18.
J Intern Med ; 283(2): 190-199, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29098731

RESUMO

BACKGROUND: Early detection of autoimmune Addison's disease (AAD) is important as delay in diagnosis may result in a life-threatening adrenal crisis and death. The classical clinical picture of untreated AAD is well-described, but methodical investigations are scarce. OBJECTIVE: Perform a retrospective audit of patient records with the aim of identifying biochemical markers for early diagnosis of AAD. MATERIAL AND METHODS: A multicentre retrospective study including 272 patients diagnosed with AAD at hospitals in Norway and Sweden during 1978-2016. Scrutiny of medical records provided patient data and laboratory values. RESULTS: Low sodium occurred in 207 of 247 (84%), but only one-third had elevated potassium. Other common nonendocrine tests were largely normal. TSH was elevated in 79 of 153 patients, and hypoglycaemia was found in 10%. Thirty-three per cent were diagnosed subsequent to adrenal crisis, in whom electrolyte disturbances were significantly more pronounced (P < 0.001). Serum cortisol was consistently decreased (median 62 nmol L-1 [1-668]) and significantly lower in individuals with adrenal crisis (38 nmol L-1 [2-442]) than in those without (81 nmol L-1 [1-668], P < 0.001). CONCLUSION: The most consistent biochemical finding of untreated AAD was low sodium independent of the degree of glucocorticoid deficiency. Half of the patients had elevated TSH levels. Only a minority presented with marked hyperkalaemia or other nonhormonal abnormalities. Thus, unexplained low sodium and/or elevated TSH should prompt consideration of an undiagnosed AAD, and on clinical suspicion bring about assay of cortisol and ACTH. Presence of 21-hydroxylase autoantibodies confirms autoimmune aetiology. Anticipating additional abnormalities in routine blood tests may delay diagnosis.


Assuntos
Doença de Addison/diagnóstico , Diagnóstico Precoce , Doença de Addison/sangue , Doença de Addison/complicações , Adolescente , Adulto , Idoso , Biomarcadores/sangue , Glicemia/metabolismo , Criança , Pré-Escolar , Feminino , Humanos , Hidrocortisona/sangue , Hiperpotassemia/etiologia , Hipoglicemia/etiologia , Hiponatremia/etiologia , Masculino , Pessoa de Meia-Idade , Potássio/sangue , Estudos Retrospectivos , Sódio/sangue , Tireotropina/sangue , Adulto Jovem
19.
Endocrine ; 59(2): 319-329, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28795340

RESUMO

PURPOSE: to assess bone damage and metabolic abnormalities in patients with Addison's disease given replacement doses of glucocorticoids and mineralocorticoids. METHODS: A total of 87 patients and 81 age-matched and sex-matched healthy controls were studied. The following parameters were measured: urinary cortisol, serum calcium, phosphorus, creatinine, 24-h urinary calcium excretion, bone alkaline phosphatase, parathyroid hormone, serum CrossLaps, 25 hydroxyvitamin D, and 1,25 dihydroxyvitamin D. Clear vertebral images were obtained with dual-energy X-ray absorptiometry in 61 Addison's disease patients and 47 controls and assessed using Genant's classification. RESULTS: Nineteen Addison's disease patients (31.1%) had at least one morphometric vertebral fracture, as opposed to six controls (12.8%, odds ratio 3.09, 95% confidence interval 1.12-8.52). There were no significant differences in bone mineral density parameters at any site between patients and controls. In Addison's disease patients, there was a positive correlation between urinary cortisol and urinary calcium excretion. Patients with fractures had a longer history of disease than those without fractures. Patients taking fludrocortisone had a higher bone mineral density than untreated patients at all sites except the lumbar spine. CONCLUSIONS: Addison's disease patients have more fragile bones irrespective of any decrease in bone mineral density. Supra-physiological doses of glucocorticoids and longer-standing disease (with a consequently higher glucocorticoid intake) might be the main causes behind patients' increased bone fragility. Associated mineralocorticoid treatment seems to have a protective effect on bone mineral density.


Assuntos
Doença de Addison/diagnóstico por imagem , Glucocorticoides/uso terapêutico , Terapia de Reposição Hormonal , Mineralocorticoides/uso terapêutico , Fraturas da Coluna Vertebral/diagnóstico por imagem , Absorciometria de Fóton , Doença de Addison/complicações , Doença de Addison/tratamento farmacológico , Adulto , Idoso , Cálcio/sangue , Creatinina/sangue , Dexametasona/uso terapêutico , Feminino , Humanos , Hidrocortisona/uso terapêutico , Hidrocortisona/urina , Masculino , Pessoa de Meia-Idade , Hormônio Paratireóideo/sangue , Fósforo/sangue , Fraturas da Coluna Vertebral/complicações , Vitamina D/análogos & derivados , Vitamina D/sangue , Adulto Jovem
20.
Eur J Endocrinol ; 178(1): 113-120, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29066573

RESUMO

OBJECTIVES: We determined the incidence and prevalence of Addison's disease (AD) among persons with or without type 1 diabetes mellitus (T1DM) in nationwide, matched cohort studies. METHODS: Persons with T1DM were identified from the Swedish National Diabetes Register and each was matched for age, sex, year and county to five controls randomly selected from the general population. Persons with AD were identified from the Swedish National Inpatient Register. Baseline demographics and seasonal onset variation of AD were presented by descriptive statistics. Prevalence and incidence were estimated by proportions and incidence rates, respectively. Times to AD were analyzed using the Cox proportional hazard model. RESULTS: Between 1998 and 2013, 66 persons with T1DM were diagnosed with AD at a mean age (s.d.) of 36.4 (13.0) years among 36 514 persons with T1DM, while 32 were diagnosed with AD at a mean age of 42.7 (15.2) years among 182 570 controls. The difference in mean age at diagnosis of AD between the groups was 6.3 years (P value = 0.036). The incidence of AD for a person with or without T1DM was therefore 193 and 18 per million person-years, respectively. The adjusted relative risk increase of developing AD in T1DM was 10.8 (95% CI: 7.1-16.5). The highest incidence of AD was observed during February-March and September-October. The prevalence of AD in persons with or without T1DM in December 2012 was 3410 and 208 per million, respectively. The odds ratio for AD in persons with T1DM vs controls was 16.5 (95% CI: 11.1-24.5). CONCLUSION: The risk to develop AD among persons with T1DM is more than 10 times higher than in persons without T1DM. Persons with T1DM develop AD at a younger age. The incidence of AD may have a seasonal pattern.


Assuntos
Doença de Addison/epidemiologia , Diabetes Mellitus Tipo 1/complicações , Doença de Addison/complicações , Adulto , Idade de Início , Estudos de Coortes , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Prevalência , Sistema de Registros , Risco , Estações do Ano , Suécia/epidemiologia
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