Recalcitrant Hypocalcaemia in Autoimmune Enteropathy

Geyer, Myfanwy; Fairchild, Jan; Moore, David; Moore, Lynette; Henning, Paul; Tham, Elaine

doi:10.1542/peds.2013-3308

Cited by 9 publications

(8 citation statements)

References 24 publications

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“…Furthermore, hypocalcemia itself can cause malabsorption by reducing cholecystokinin secretion, decreasing gall bladder emptying, and causing pancreatic insufficiency (7,23). The association between loss of EE cells and diarrhea in patients with APECED and severe hypocalcemia that is unresponsive to conventional therapy has been reported by others as well (19,(23)(24)(25).…”

Section: Discussionmentioning

confidence: 83%

“…These small molecules are then detected by specific transporters and receptors located on the EE cells, and stimulate hormone secretion predominantly at the sites where nutrient absorption is maximal. It seems that malabsorptive diarrhea results from the loss of EE cells (15) and hypocalcemic episodes resulted from malabsorption of oral calcium and vitamin D. Moreover, in each such hypocalcemic episode, a stress dose of hydrocortisone was given due to adrenal insufficiency, which might reduce intestinal calcium absorption, renal calcium resorption, and bone remodeling, further decreasing the proband's serum calcium levels (23). Furthermore, hypocalcemia itself can cause malabsorption by reducing cholecystokinin secretion, decreasing gall bladder emptying, and causing pancreatic insufficiency (7,23).…”

Section: Discussionmentioning

confidence: 99%

“…It seems that malabsorptive diarrhea results from the loss of EE cells (15) and hypocalcemic episodes resulted from malabsorption of oral calcium and vitamin D. Moreover, in each such hypocalcemic episode, a stress dose of hydrocortisone was given due to adrenal insufficiency, which might reduce intestinal calcium absorption, renal calcium resorption, and bone remodeling, further decreasing the proband's serum calcium levels (23). Furthermore, hypocalcemia itself can cause malabsorption by reducing cholecystokinin secretion, decreasing gall bladder emptying, and causing pancreatic insufficiency (7,23). The association between loss of EE cells and diarrhea in patients with APECED and severe hypocalcemia that is unresponsive to conventional therapy has been reported by others as well (19,(23)(24)(25).…”

Section: Discussionmentioning

confidence: 99%

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Case Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy

et al. 2021

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Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic disorder, associated with endocrine deficiencies and non-endocrine involvement. Gastrointestinal (GI) manifestations appear in approximately 25% of patients and are the presenting symptom in about 10% of them. Limited awareness among pediatricians of autoimmune enteropathy (AIE) caused by destruction of the gut endocrine cells in APECED patients delays diagnosis and appropriate therapy. We describe an 18-year-old female presenting at the age of 6.10 years with hypoparathyroidism, oral candidiasis and vitiligo. The clinical diagnosis of APECED was confirmed by sequencing the autoimmune regulator-encoding (AIRE) gene. Several characteristics of the disease—Hashimoto’s thyroiditis, Addison’s disease, diabetes mellitus type 1 and primary ovarian insufficiency—developed over the years. She had recurrent episodes of severe intractable hypocalcemia. Extensive GI investigations for possible malabsorption, including laboratory analyses, imaging and endoscopy with biopsies were unremarkable. Revision of the biopsies and chromogranin A (CgA) immunostaining demonstrated complete loss of enteroendocrine cells in the duodenum and small intestine, confirming the diagnosis of AIE. Management of hypocalcemia was challenging. Only intravenous calcitriol maintained calcium in the normal range. Between hypocalcemic episodes, the proband maintained normal calcium levels, suggesting a fluctuating disease course. Repeated intestinal biopsy revealed positive intestinal CgA immunostaining. The attribution of severe hypocalcemic episodes to AIE emphasizes the need for increased awareness of this unique presentation of APECED. The fluctuating disease course and repeated intestinal biopsy showing positive CgA immunostaining support a reversible effect of GI involvement. CgA immunostaining is indicated in patients with APECED for whom all other investigations have failed to reveal an explanation for the malabsorption.

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Section: Discussionmentioning

confidence: 83%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Case Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy

et al. 2021

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“…Сверхэкспрессия MHC приводит к пролиферации CD4+ и CD8+ Т-лимфоцитов, которые оказывают свое влияние либо секретируемыми лимфокинами через прямую цитотоксичность, либо через непрямую антителозависимую цитотоксичность. Уровни фактора некроза опухоли-альфа (TNF-α), интерферона-γ, интерлейкинов IL-13, и IL-17 значительно повышены [26,32,34]. В-клетки также участвуют в патогенезе с CVID [35].…”

Section: результатыunclassified

IBD-like gastrointestinal disorders in children

Новикова

Хавкин

Прокопьева

2021

jour

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Traditionally, inflammatory bowel diseases (IBD) ulcerative colitis (UC) and Crohn’s disease (CD). At the same time, there are a number of lesions of the gastrointestinal tract, which can proceed for a long time under the guise of IBD, masking the true cause of the disease. This leads to late diagnosis and, quite often, fatal consequences. These diseases include autoimmune enteropathy (AIE). It is a fairly rare disease characterized by severe diarrhea and immune- mediated damage to the intestinal mucosa.The aim is to describe the criteria of diagnosis, etiology, pathogenesis, epidemiology, clinic and treatment of AIE in children based on an analysis of modern literature.Results. Diagnostic criteria for AIE include chronic diarrhea (lasting more than 6 weeks), malabsorption syndrome, specific histological findings from small bowel biopsy with the exclusion of other causes of villous atrophy. An additional criterion is the presence of antibodies against enterocytes or goblet cells. There are: (1) AIEs associated with syndromes such as IPEX and APECED; (2) an isolated form of GI AIE with antibodies against enterocytes without diseases of the digestive system; and (3) any form of AIE in girls associated with any other autoimmune phenomena. To date, at least five subtypes of AIE are known: Primary AIE (pediatric); Syndromic AIE (pediatric); Primary (sporadic) EIA of adults; Secondary (iatrogenic) AIE of adults; Paraneoplastic AIE. Patients with AIE may have associated autoimmune diseases, including diabetes mellitus, autoimmune hepatitis, alopecia, hypothyroidism, and interstitial nephritis. AIE. is a complex disease and potentially life-threatening, the mortality rate reaches 30% in pediatric practice. The prognosis depends on the age of onset of the disease, the severity of symptoms and the degree of histological damage to the gastrointestinal tract. Along with nutritional support, immunosuppressive therapy, the use of therapy based on modern knowledge in the field of molecular biology can help control the disease.

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“…Eine Ausnahme ist die juvenile Form des PGAS, bei welchem ein isolierter Verlust bzw. eine Rarefizierung endokriner Zellen in der Schleimhaut gefunden werden kann [5,11,24].…”

Section: Histologische Veränderungen Bei Pgasunclassified

Polyglanduläre autoimmune Syndrome

Komminoth

2016

Pathologe

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Polyglandular autoimmune syndromes (PGAS), also known as autoimmune polyendocrinopathy syndromes (APS), are a heterogeneous group of rare, genetically caused diseases of the immune system which lead to inflammatory damage of various endocrine glands resulting in malfunctions. In addition, autoimmune diseases of non-endocrine organs may also be found. Early diagnosis of PGAS is often overlooked because of heterogeneous symptoms and the progressive occurrence of the individual diseases. The two most important forms of PGAS are the juvenile and adult types. The juvenile type (PGAS type 1) is caused by mutations in the autoimmune regulator (AIRE) gene on chromosome 21, exhibits geographic variations in incidence and is defined by the combination of mucocutaneous candidiasis, Addison's disease and hypoparathyroidism. In addition, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome and other autoimmune diseases can also occur. The adult form of PGAS (PGAS type 2) is a multigenetic disorder associated with some HLA haplotypes, is more common than the juvenile type, shows female predominance and exhibits the combination of type 1 diabetes, autoimmune thyroid disease, Addison's disease and other autoimmune disorders. The histological alterations in affected organs of PGAS patients are similar to findings in sporadically occurring autoimmune diseases of these organs but there are no pathognomic fine tissue findings. If patients exhibit autoimmune changes in two different endocrine glands or if there are indications of several autoimmune disorders from the patient history, it is important to consider PGAS and inform the clinicians of this suspicion.

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Recalcitrant Hypocalcaemia in Autoimmune Enteropathy

Cited by 9 publications

References 24 publications

Case Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy

Case Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy

IBD-like gastrointestinal disorders in children

Polyglanduläre autoimmune Syndrome

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