Estimated Risk for Developing Autoimmune Addison’s Disease in Patients with Adrenal Cortex Autoantibodies

Coco, Graziella; Prà, Chiara Dal; Presotto, Fabio; Albergoni, Maria Paola; Canova, Cristina; Pedini, B.; Zanchetta, R.; Chen, Shu; Furmaniak, Jadwiga; Smith, Bernard Rees; Mantero, Franco; Betterle, Corrado

doi:10.1210/jc.2005-0860

Cited by 115 publications

(116 citation statements)

References 33 publications

(80 reference statements)

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“…Adrenal function tests were not available for the other two, asymptomatic patients, at the time of writing this report. However, the 21-OH Ab positive children will be followed up carefully [45].…”

Section: Discussionmentioning

confidence: 99%

Organ-specific autoimmunity in relation to clinical characteristics in children with long-lasting type 1 diabetes

Głowińska‐Olszewska

Michalak

Łuczyński

et al. 2016

Journal of Pediatric Endocrinology and Metabolism

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Background: The aim of this study was to assess the prevalence of diabetes and other organ-specific autoantibodies (Ab) associated with various autoimmune conditions, in Polish children with type 1 diabetes mellitus (T1DM). Methods: In this study 114 patients, aged 13.4 years, with mean diabetes duration 5.2 years were included. Ab to islet cell antigens: glutamic acid decarboxylase (GAD), insulinoma antigen 2 (IA-2), zinc transporter 8 (ZnT8), together with thyroid peroxidase Ab (TPO Ab), thyroglobulin Ab (Tg Ab), tissue transglutaminase Ab (tTG Ab) and 21-hydroxylase Ab (21-OH Ab) were measured. Results: The prevalence of at least one diabetes associated Ab was found in 87%, with the highest prevalence of 64% for ZnT8 Ab. In patients with disease duration < 5 years, at least one antibody was present in 90%, the most prevalent was ZnT8 Ab (72%). In patients with duration > 10 years, 50% had at least one antibody. The prevalence of other than islet cell autoimmunity was high (34%). Thyroid Ab were detected in 26% patients, 42% in girls vs. 8% in boys, p < 0.001. tTG Ab were found in 11% patients, with a greater prevalence in children with early onset (p = 0.01). 21-OH Ab were found in 2.6% T1DM patients.

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Section: Discussionmentioning

confidence: 99%

Organ-specific autoimmunity in relation to clinical characteristics in children with long-lasting type 1 diabetes

Głowińska‐Olszewska

Michalak

Łuczyński

et al. 2016

Journal of Pediatric Endocrinology and Metabolism

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“…All patients with adrenal autoantibodies had normal ACTH and cortisol levels, and the autoantibody indices were lower than observed in most patients with primary autoimmune adrenal insufficiency (38) or APS1. Among relatives of patients with an organ-specific autoimmune disease the presence of autoantibodies against the adrenal gland predicts developing autoimmune adrenal disease (39). The high frequency of low titers of autoantibodies (Table 3) may indicate an impaired immune system in the 22q11.2 DS patients (15).…”

Section: Discussionmentioning

confidence: 99%

Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome

Lima

Abrahamsen

Wolff

et al. 2011

European Journal of Endocrinology

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Objective: To characterize the endocrine and autoimmune disturbances with emphasis on parathyroid dysfunction in patients with 22q11.2 deletion syndrome (22q11.2 DS). Design: In this nationwide survey; 59 patients (age 1-54 years) out of 86 invited with a 22q11.2 DS were recruited through all the genetic institutes in Norway. Methods: Data was collected from blood tests, medical records, a physical examination and a semistructured interview. We registered autoimmune diseases and measured autoantibodies, hormone levels and HLA types. Results: Twenty-eight (47%) patients had hypoparathyroidism or a history of neonatal or transient hypocalcemia. Fifteen patients had neonatal hypocalcemia. Fourteen patients had permanent hypoparathyroidism including seven (54%) of those above age 15 years. A history of neonatal hypocalcemia did not predict later occurring hypoparathyroidism. Parathyroid hormone levels were generally low indicating a low reserve capacity. Twenty-eight patients were positive for autoantibodies. Six (10%) persons had developed an autoimmune disease, and all were females (P!0.02). Hypoparathyroidism correlated with autoimmune diseases (P!0.05), however, no antibodies were detected against the parathyroid glands. Conclusions: Hypoparathyroidism and autoimmunity occur frequently in the 22q11.2 DS. Neonatal hypocalcemia is not associated with later development of permanent hypoparathyroidism. Hypoparathyroidism may present at any age, also in adults, and warrants regular measurement of calcium levels. Hypoparathyroidism and autoimmunity occur frequently together. Our findings of autoimmune diseases in 10% of the patients highlight the importance of stringent screening and follow-up routines.

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“…These Aabs constitute important diagnostic markers and are sometimes predictive of disease manifestations (11,12). Hypopituitarism is a rare manifestation of APS1.…”

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confidence: 99%