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1.
Autoimmune polyglandular syndromes (APS) are conditions characterized by the association of two or more endocrine and non-endocrine autoimmune disorders. Diabetes mellitus type 1 (T1DM) is one of the most frequent components of APS and is often its first symptom. The frequency of autoimmune pathologies in patients affected by T1DM is proportional to the persistance of ICA. Even in first relatives of these patients, an increase in incidence of latent or manifest autoimmune pathology is noticed. The association of T1DM with autoimmune thyroiditis and celiac disease in a girl from a family affected by high incidence of autoimmune pathology is described. The role of gluten in the pathogenesis of T1DM and some other autoimmune conditions in genetically predisposed subjects. Infact studies are still inadequate for demostrating how a gluten-free diet could delay or mitigate the course of T1DM and of other autoimmune pathologies in genetically predisposed subjects. Nevertheless, it is suggested that gluten could represent a starting or a maintenance factor of autoimmune processes and the risk of autoimmune pathologies is proportional to the duration of the exposure to gluten. A screening for a quick singling out of autoimmune pathologies is suggested for T1DM patients, their first relatives and for subjects affected by other autoimmune diseases or celiac disease.  相似文献   

2.
Abstract:  Patients with Down's syndrome are at higher risk for developing autoimmune diseases than those of the general population. Autoimmune diseases like Hashimoto's thyroiditis, Graves' disease, diabetes mellitus type I, celiac disease, autoimmune chronic active hepatitis, alopecia, vitiligo and hypoparathyroidism are recognized associations with Down's syndrome. We describe the case of a very young boy with Down's syndrome who was diagnosed with diabetes mellitus type I, Hashimoto's thyroiditis and celiac disease before 8 yr of age. Unspecific symptoms like weight loss, unstable blood sugar with high amplitudes, behavioural problems and dry skin were suspicious for other endocrine disorders or celiac disease in our case. The boy was showing the typical human leukocyte antigen profile for these autoimmune diseases. The prevalence of these autoimmune diseases is higher in Down's syndrome than in general population. Therefore, we advice to follow children with Down's syndrome who develop more than two autoimmune diseases very carefully.  相似文献   

3.
Type 1 diabetes mellitus (DM1), autoimmune thyroid disease (ATD) and autoimmune gastritis often occur together forming the so-called autoimmune polyendocrine syndrome (APS) type 3. Thyroid autoimmunity is evident in up to one third and gastric autoimmunity in up to a quarter of patients with DM1. Also relatives of DM1 patients, particularly mothers, have higher frequencies of these autoimmune conditions. Vice versa, gastric autoimmunity is present in one third of ATD patients and islet autoimmunity in one out ten. The BB-DP rat, the NOD mouse, the OS chicken and the neonatal thymectomy mouse model are animal models of APS type 3. In these models the autoimmune destruction of the various target tissues has been shown to be a multi-step process in which several genetic polymorphisms need to converge to induce both local anomalies in the target gland and anomalies in the immune system. With regard to environmental factors, excess iodine is well known to elicit/aggravate thyroid autoimmunity in these animal models. Screening DM1 patients and their relatives (particularly females) for thyroid autoimmunity is recommended. If positive, excess iodine should be avoided and thyroxin treatment considered. Whether autoimmune thyroiditis and autoimmune gastritis patients should be screened for islet Ab is not clarified.  相似文献   

4.
Objective: Type 1 diabetes mellitus (T1DM) is associated with other autoimmune diseases such as celiac disease (CD) and Hashimoto thyroiditis. The aim of this study was to evaluate the screening frequency for CD and thyroid antibodies in a multicentre survey. Methods: The Diabetes Patienten Verlaufsdokumentationssystem (DPV) initiative is based on standardized, prospective, multicentre documentation in children and adolescents with diabetes. Data from 31 104 patients <18 yr of age (52% males, mean age 13.1 yr) with T1DM from 177 paediatric centres in Germany and Austria from 1995 until 2007 were analysed. Results: Of 31 104 patients, 16 994 patients (55%) were screened at least once for CD. In 1995, 44% of the patients were screened for CD compared with 68.6% in 2006. Annual screening for CD has also increased (11.9% in 1995 compared with 43.6% in 2006). Eleven per cent of the patients had positive antibodies for CD. Patients with positive antibodies were significantly younger at diabetes onset and had a significantly longer duration of diabetes (p < 0.001). Compared with screening for CD, screening for thyroid antibodies was performed more frequently (at least once in 62% of the patients). Fifteen per cent of the patients had positive thyroid antibodies. Screening for thyroid antibodies also increased from 62.6 to 72.9%, and annual screening frequency increased from 15.9 to 48.9%. Conclusion: Screening for associated autoimmune diseases in children with T1DM has increased during the past decade. Eleven per cent of the patients had positive CD‐specific antibodies, and 15% had positive thyroid antibodies. Screening for thyroid antibodies is performed more frequently than screening for CD.  相似文献   

5.
目的 探讨儿童1型糖尿病(DM)并甲状腺自身抗体异常的临床意义。方法 应用酶联免疫吸附法(ELISA)及放射免疫法(RIA)测定11例1型DM患儿血清谷氨酸脱羧酶抗体(GADA)、胰岛素自身抗体(IAA)、胰岛细胞抗体(ICA)、甲状腺球蛋白抗体(TgAb)、甲状腺微粒体抗体(TMA)及甲状腺功能。结果 11例1型DM患儿中GADA、IAA、ICA阳性率分别为27.3%、63.6%、18.2%;TgAb、TMA阳性率分别为0%、27.3%,其中亚临床甲状腺功能低下(甲低)2例,发生率为18.2%。伴与不伴甲状腺自身抗体阳性两组1型DM患儿GADA、IAA、ICA阳性率分别为66.7%和12.5%、100%和50%、33.3%和12.5%,但无统计学差异(P>0.05)。结论 1型DM有相当高TMA阳性检出率和自身免疫性甲状腺疾病(AITD)发生率,并可能演变为自身免疫性多内分泌腺综合征(PAS),并甲状腺自身抗体异常的1型DM确实存在胰岛自身抗体高企。  相似文献   

6.
Aim/hypothesis:  To assess the prevalence of autoimmune thyroid disease (ATD) in insulin-treated youth with clinical features of type 2 diabetes mellitus (T2DM).
Methods:  We evaluated prevalence of thyroid peroxidase (TPO) and thyroglobulin (TGA) antibodies at onset of insulin-treated diabetes and follow-up in 183 White and Black children. Of these, 136 had a body mass index (BMI) <85th percentile with 122 (89%) positive for β-cell autoimmunity [type 1 diabetes mellitus (T1DM)/group I], 25 were overweight (BMI ≥85thpercentile) with or without acanthosis nigricans with β-cell autoimmunity ['double' diabetes (DD)/group II], and 22 were overweight with no conventional β-cell autoantibodies (group III).
Results:  The prevalence of TPO and/or TGA was 39 and 29% (p = 0.19) in White and Black children and 39, 32, and 0% (p = 0.007) in groups I, II, and III, respectively. After a median follow-up of 60 months, 3.7, 4.3, and 0% developed hypothyroidism (increased thyroid-stimulating hormone with or without decreased free T4) in groups I, II, and III, respectively (p = 0.6). In subjects with TPO and/or TGA, hypothyroidism developed in 10 and 14% of groups I and II, respectively (p = 0.7). No child without thyroid antibodies developed hypothyroidism.
Conclusions:  In patients with clinical features of T2DM who have evidence of β-cell autoimmunity (DD), the frequency of thyroid antibodies and ATD is similar to that in classical T1DM. This suggests that TIDM comorbidities may be common in clinical T2DM patients who have β-cell autoimmunity. Despite their obesity, youth with insulin-requiring diabetes should be screened for thyroid and possibly other T1DM-associated autoimmune diseases.  相似文献   

7.
Type 1 diabetes mellitus (TIDM) classically presents with symptomatic hyperglycemia and many patients develop diabetic ketoacidosis prior to their diagnosis. However, non‐classical presentation or co‐presentation with associated diseases may delay diagnosis or lead to challenges in acute, clinical management. An 18‐yr‐old girl presented to hospital with severe, symptomatic hypoglycemia. Clinical history and serum electrolyte concentrations suggested a diagnosis of adrenal insufficiency. She remained hypoglycemic until glucocorticoid replacement was commenced, at which point she developed persistent hyperglycemia requiring insulin therapy. Subsequent follow up confirmed the diagnosis of Addison's disease (AD), the treatment of which unmasked co‐existing type 1 diabetes. Autoimmune diseases often cluster together in affected patients and first‐degree relatives. Approximately 1 in 200 patients with T1DM develop AD. However, months or more commonly years usually elapse between the presentation of different autoimmune conditions. The co‐diagnosis T1DM and AD in the acute setting is rare. Moreover, the first presentation of T1DM with severe hypoglycemia is even more exceptional. This case highlights the need for vigilance during the acute, emergency management of patients with autoimmune conditions and, in particular, to consider the possibility of concurrent antibody‐mediated diseases which may need to be addressed during resuscitation.  相似文献   

8.
Diabetes mellitus is a common autoimmune endocrine disorder associated with organ-specific autoantibodies which are frequently detected at the time of diagnosis. Some of these antibodies are specific to the pancreas (GAD, IA2, ICA) while others are related to different autoimmune diseases. Aim of the study: To define the prevalence of thyroid autoimmune disease in Libyan patients with type 1 diabetes mellitus (T1DM) since no similar studies have been performed in Libya. Materials and methods: Blood samples were collected from 218 patients with T1DM who are followed by the Pediatric Department, Tripoli Medical Center, Libya. All sera were analyzed in Italy (Laboratory of Immunopathology and Allergy, Udine). The patients were composed of 123 females (56.4%) and 95 males (43.6%), mean age 12.2 ± 4.6 years (range 2.1–24.5 years), mean duration of diabetes 4.7 ± 4.0 years (range 0.1–17.5 years). Sera were tested for anti-thyroperoxidase (TPO) and anti-thyroglobulin antibodies (TG). TSH and FT4 concentrations were measured in all subjects. GAD, IA-2 was also measured. Results: Of the diabetic children, 23.4% were positive for anti-microsomal peroxidase antibodies (TPO-Ab) and 7.8% for antithyroglobulin antibodies (TG-Ab); whereas 6.9% of the patients were positive for both TPO-Ab and TG-Ab. Of the T1DM patients who were positive for TPO-Ab, 66.6% were females. The majority (57%) of the patients who were positive for TPO had diabetes for longer than 5 years. Five patients (2.3%) had evidence of subclinical hypothyroidism whereas two patients (0.9%) had overt hypothyroidism. Two patients had subclinical hyperthyroidism and two (0.9%) had overt hyperthyroidism. Interestingly, 16.2% of patients were positive for both thyroid and pancreatic antibodies. Conclusions: The prevalence of autoimmune thyroid disease in type 1 diabetic patients is higher than in the general population. A routine screening strategy should be implemented with the determination of anti-thyroid antibodies and TSH in type 1 diabetic patients, particularly in girls, and in patients with diabetes of more than 5 years duration. Patients who have positive TPO antibodies may need the assessment of thyroid function at shorter intervals.  相似文献   

9.
Patients with type 1 diabetes mellitus (T1DM) have an increased risk of other autoimmune disorders. The combination of Addison's disease with T1DM and/or autoimmune thyroid disease is known as autoimmune polyendocrinopathy type 2 (APS-2). 21-hydroxylase autoantibody (21OHAb) is considered as a valuable marker for identifying patients with autoimmune Addison's disease (AD); however, it is not available in some countries. Here we present a 5-year-old boy with newly diagnosed T1DM, who developed AD with adrenal crisis within only six months, and after 1-year treatment, the test of 21OHAb was negative. This was a rare and the first APS-2 case in Taiwan, because APS-2 affects female adults more often, but not boys. At diagnosis of T1DM, we suggest that checking diurnal cortisol and adrenocorticotropic hormone levels as a baseline evaluations, and if it is available, checking 21OHAb as well. If there is subtle evidence of AD, such as unexplained hypoglycemia or unreasonably reduced insulin requirements, adrenal functions must be studied as soon as possible, even in the 21OHAb-negative T1DM patients. Even if nothing is abnormal, the patient still needs an annual measurement.  相似文献   

10.
Addison's disease presenting in four adolescents with type 1 diabetes   总被引:1,自引:0,他引:1  
Primary adrenocortical insufficiency (Addison's disease) is a potentially fatal condition that often develops insidiously and can be easily overlooked. Although rare in the general population, it is more common in patients with type 1 diabetes mellitus (T1DM). The combination of Addison's disease with T1DM and/or autoimmune thyroid disease is known as autoimmune polyendocrine syndrome type-2 (APS-2). T1DM commonly precedes the development of adrenocortical insufficiency in most patients with APS-2. We, in this study, present four cases of Addison's disease developing in adolescents with pre-existing T1DM. Risk factors for Addison's disease in this population include a history of other organ-specific autoimmunity, particularly thyroid, and a positive family history. In addition to the 'classic' Addisonian features, the development of unexplained recurrent hypoglycemia, reduction in total insulin requirement, improvement in glycemic control, or abnormal pigmentation should arouse suspicion of adrenocortical insufficiency. Adrenal antibodies have been proposed as a screening tool for Addison's disease in the T1DM population, but doubts remain about their specificity and sensitivity. The addition of specific HLA DRB1 subtyping has been proposed to improve predictive value.  相似文献   

11.
Autoimmune hemolytic anemia is rare in children and infants and steroids are the corner stone of therapy. Management of the patients with steroid refractory/dependent disease is difficult .Rituximab is being used in the treatment of a variety of autoimmune diseases including Autoimmune hemolytic anemia (AIHA),especially in adults but there is scarce data regarding the use of this agent in pediatric AIHA patients.The authors report two cases of steroid refractory AIHA, who responded to rituximab with review the literature of its use in pediatrics.  相似文献   

12.
Turner's syndrome is associated with autoimmune disorders. Autoimmune endocrinopathy in Turner's syndrome seems to be limited to autoimmune thyroiditis. A small number of patients with Turner's syndrome has also been associated with celiac disease, inflammatory bowel disease and juvenile rheumatoid arthritis. Type 1 diabetes mellitus in Turner's syndrome has been rarely reported. We present here the youngest patient with Turner's syndrome who developed type 1 diabetes mellitus. At the age of 3.5 years she was hospitalized with diabetic ketoacidosis. Anti-islet cell and anti-insulin antibodies were positive and C-peptide level was low. When she was investigated for recurrent urinary tract infections, horseshoe kidney was detected by ultrasonography. Karyotype analysis revealed 45,XO. She has been followed for 2 years with an insulin dose of 0.9 U/kg per day. The prevalence of type 1 diabetes mellitus associated with Turner's syndrome is still unknown.  相似文献   

13.
Autoimmune gastritis is characterised by lymphocytic infiltration of the gastric submucosa, with loss of parietal and chief cells and achlorhydria. Often, gastritis is expressed clinically as cobalamin deficiency with megaloblastic anaemia, which is generally described as a disease of the elderly. Here, we report on two prepubertal children who developed autoimmune gastritis. One child developed autoimmune gastritis as part of a polyglandular autoimmune disease from a family with polyglandular autoimmune disease type II (PGA type II) and the other as part of a classic "thyro-gastric cluster," which may have been triggered by emotional trauma. Both children presented with normal small bowel biopsies, with abnormal gut permeability, which subsequently resolved. These patients are among the youngest reported to date. The immune systems targetted the gastric parietal cell autoantigens (ATP4A and ATP4B) in both children, similar to the elderly. The study of children with autoimmune gastritis and their families may provide additional insights into the disease's pathogenesis and may also lead to the identification of inheritable factors influencing susceptibility. This report underlines the necessity to screen paediatric patients with organ-specific autoimmune diseases for co-existent conditions. Children with polyglandular autoimmune disease are at particularly high risk.  相似文献   

14.

Objective:

Celiac disease is an autoimmune disorder in which the risk of autoimmune liver disease is high. Autoimmune hepatitis is a chronic and progressive entity and the risk of its being associated with other autoimmune disorders such as celiac disease is high also. The aim of this study was to determine the prevalence of celiac disease in patients with autoimmune hepatitis and vice versa.

Methods:

In a cross-sectional study children with autoimmune hepatitis underwent serological screening and endoscopy for celiac disease. In patients with celiac disease, serum aminotransferases were measured and, if abnormal, autoantibodies related to autoimmune hepatitis were checked and needle liver biopsy was performed.

Findings:

Of the 96 patients, 64 had autoimmune hepatitis and 32 celiac disease. Among patients with autoimmune hepatitis only three (4.7%) were compatible with celiac disease. In the group of patients with celiac disease, autoimmune hepatitis was confirmed in four (12.5%) cases. We consider important to state that 3.1% of this group had celiac hepatitis.

Conclusion:

Autoimmune liver disease is sometimes associated with latent celiac disease. Serological screening for celiac disease should be routinely done in patients with abnormal serum aminotransferases, particularly those with chronic liver disease. On the other hand, celiac disease is often accompanied by other autoimmune diseases, including autoimmune hepatitis.  相似文献   

15.
A 12-yr-old boy initially presented with chronic urticaria. Autoimmune thyroid disease was then diagnosed during routine evaluation. He developed type 1 diabetes shortly after thyroid hormone replacement was initiated. This case emphasizes the importance of routine screening for other autoimmune disorders in patients in whom one disorder is already present.  相似文献   

16.
Patients with type 1 diabetes (T1D) are at increased risk for developing other autoimmune diseases, most commonly autoimmune thyroiditis and celiac disease. Few reports have described the association of systemic lupus erythematosus and T1D in the literature. To the best of our knowledge, this is the first report of lupus nephritis in a child with T1D.  相似文献   

17.
Background: Patients with early onset diabetes because of defects in glucose‐stimulated insulin secretion (GSIS) may respond better to sulfonylureas than insulin treatment. Such patients include those with monogenic disorders, who can be differentiated from autoimmune type 1 diabetes mellitus (T1DM) by genetic testing. Genetic testing is expensive and unknown defects in GSIS would not be diagnosed. Aims: We propose a sulfonylurea challenge test to identify patients who have been clinically diagnosed with T1DM, but those who maintain a preferentially sulfonylurea‐responsive insulin secretion. Materials & Methods: A total of 3 healthy controls, 2 neonatal diabetes mellitus (NDM) subjects, 3 antibody‐positive (Ab+T1DM), and 12 antibody‐negative (Ab?T1DM) subjects with type 1 diabetes, were given an intravenous bolus of glucose followed by an oral dose of glipizide. Results: Healthy controls showed a robust C‐peptide increase after both glucose and glipizide, but NDM subjects showed a large increase in C‐peptide only following glipizide. As expected, 2 of 3 Ab+T1DM, as well as 11 of 12 Ab?T1DM showed no response to either glucose or glipizide. However, 1 Ab?T1DM and 1 Ab+T1DM showed a small C‐peptide response to glucose and a marked positive response to glipizide, suggesting defects in GSIS rather than typical autoimmune diabetes. Discussion: These data demonstrate the feasibility of the sulfonylurea challenge test, and suggest that responder individuals may be identified. Conclusions: We propose that this sulfonylurea challenge test should be explored more extensively, as it may prove useful as a clinical and scientific tool.  相似文献   

18.
Background: An increased number of intraepithelial lymphocytes (IELs) can be the only histological feature in early stages of celiac disease (CD). This is also presented in duodenum of patients with Helicobacter pylori -associated gastritis and in autoimmune diseases. Because CD is frequently associated with type 1 diabetes mellitus, we analyzed the density of IELs in the distal duodenum of non-celiac diabetic patients associated or not with H. pylori infection.
Methods: IEL density and the presence of H. pylori were determined in biopsies of the distal duodenum and gastric antrum and body obtained from Brazilian diabetic adolescents who were negative for anti-human tissue transglutaminase and anti-endomysial. The results were compared with the histological findings of gastric and duodenal biopsies obtained from non-diabetic older children and adolescents.
Results: H. pylori was detected in 33.3% of diabetic patients and in 56.7% of the control group. No association was observed between the presence of H. pylori and an increased lymphocyte density in the distal duodenum in either group. Diabetic patients presented a duodenal IEL density similar to that of the control group. Lymphocytic gastritis was not identified in any of the biopsies analyzed.
Conclusions: The density of IELs in the distal duodenum of diabetic adolescents did not differ from that observed in older children and adolescents without this autoimmune disease. H. pylori infection, which is frequent among adolescents from developing countries, did not modify lymphocyte density in the distal duodenum in the absence of lymphocytic gastritis.  相似文献   

19.
OBJECTIVES: To detect the presence of antibodies against bovine serum albumin in a cohort of Spanish patients with type 1 insulin-dependent diabetes. METHODS: Antibodies were measured using an in-house enzyme-linked immunosorbent assay test in 80 patients with type 1 diabetes, subdivided according to the presence or absence in their serum of celiac disease-related antibodies. For comparison, 30 patients with celiac disease (nondiabetic), 13 patients with autoimmune thyroiditis, and 45 healthy volunteers were used. RESULTS: Thirty-one percent of patients with diabetes yielded a positive result, with a mean value of 26.1 +/- 21.8 arbitrary units (AU). If the group was split into those with celiac disease-related antibodies and those lacking them, the percentages were 53% and 25%, respectively, with a mean value of 39.6 +/- 28.4 AU and 22.4 +/- 18.3 AU (P = 0.003), respectively. Seventy-three percent of celiac patients showed bovine serum albumin antibodies with a mean level of 38.8 +/- 27.7 AU, comparable to that of patients with diabetes with celiac antibodies, but higher than the group lacking them (P = 0.001). Although 46% of patients with autoimmune thyroiditis had positive results, the level detected (22.1 +/- 8.7 AU) was significantly lower than that recorded in patients with type 1 diabetes who had celiac disease antibodies (P = 0.04) and celiac patients (P = 0.04). Healthy volunteers showed no antibodies against bovine serum albumin. CONCLUSIONS: These data suggest that bovine serum albumin antibodies appears in patients with a compromised epithelial permeability, and they reflect a general defect in the process of immunologic tolerance associated with a predisposition to autoimmunity, rather than immunity specific to beta cells.  相似文献   

20.

Objective

Studies in different populations have shown great variation in the prevalence of thyroid diseases in patients with type 1 diabetes mellitus (T1DM). Our aim was to study the prevalence of thyroid disorders such as autoimmunity of thyroid (AIT), thyroid dysfunction, and goiter in children and adolescents with T1DM, compared with age- and sex-matched healthy controls in Isfahan.

Methods

One hundred patients with T1DM who were referred to Isfahan Endocrine and Metabolism Research Center and 184 healthy schoolchildren matched for age and sex were included. They were examined for goiter by two endocrinologists. Thyroid function test and serum thyroid antibodies (anti-TPO Ab and anti-Tg Ab) were measured.

Findings

The prevalence of subclinical hypothyroidism was high in both groups (18%). T1DM patients had lower frequency of goiter (21% vs. 38%, P=0.001), and higher prevalence of positive AIT (22% vs. 8%, P=0.001), anti-TPO Ab positivity (19.3% vs. 5.3%, P=0.000), and anti-Tg Ab (11.1% vs. 6.4%, P=0.1) in comparison with the control group. Being positive for AIT in diabetic patients meant an odds ratio of 5 (CI 95%: 1.5-15.6) for thyroid dysfunction. There was no association between age, sex, duration of diabetes and HbA1C with serum anti-TPO Ab and anti-Tg Ab concentrations in this group.

Conclusion

Our results demonstrated the high prevalence of AIT and thyroid dysfunction in patients with T1DM. We suggest regular thyroid function and antibody testing in these patients.  相似文献   

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