scholarly journals Clinical case report: history of diagnosis and clinical features of type autoimmune polyglandular syndrome 1

2019 ◽  
Vol 65 (5) ◽  
pp. 362-366
Author(s):  
Viktoriya V. Troshina ◽  
Natalia Yu. Romanova ◽  
Leila S. Sozaeva ◽  
Ekaterina A. Troshina
Keyword(s):  
Case Report ◽  
Autosomal Recessive Inheritance ◽  
Risk Groups ◽  
Clinical Criteria ◽  
Autoimmune Polyglandular Syndrome ◽  
Aire Gene ◽  
Organ Specific ◽  
History Of ◽  
Autoimmune Polyglandular Syndrome Type

Autoimmune polyglandular syndrome type 1 (APS-1) is a rare disease with autosomal recessive inheritance and it caused by mutations in the autoimmune regulator (AIRE) gene. This disease has clinical polymorphism that including besides endocrinopathies other organ-specific manifestations and that complicates to diagnose of this condition on time. However, most often APS-1 has a characteristic debut and a certain stage of clinical symptom manifestation. This article describes a case report of an 18-year-old patient with confirmed APS-1, in which the course of disease was erased over a long period of life and didnt meet of clinical criteria for the diagnosis in this syndrome. A high quality of life for such patients is possible with timely, individually selected replacement therapy with subsequent follow-up. It is important to remember the need for screening in risk groups for the formation of clinical forms of APS among the subjects presenting with a single endocrine pathology. The continuity of medical supervision by pediatric and adult endocrinological service physicians must be respected that can be traced on the example of the case from our practice.

scholarly journals Autoimmune Polyglandular Syndrome Type 1

2012 ◽  
Vol 2 ◽  
pp. 62 ◽  
Author(s):  
Vedeswari C. Ponranjini ◽  
S Jayachandran ◽  
L Kayal ◽  
K Bakyalakshmi
Keyword(s):  
Oral Candidiasis ◽  
The Body ◽  
Chronic Mucocutaneous Candidiasis ◽  
Enamel Hypoplasia ◽  
Autoimmune Polyglandular Syndrome ◽  
Aire Gene ◽  
History Of ◽  
Autoimmune Polyglandular Syndrome Type ◽  
Individual Disease

Autoimmune Polyglandular Syndrome (APS) Type 1 is a rare hereditary disorder that damages organs in the body. This disease entity is the result of a mutation in the AIRE gene. It is characterized by three classic clinical features - hypoparathyroidism, Addison's disease, and chronic mucocutaneous candidiasis. For a patient to be diagnosed as having APS Type 1 syndrome at least two of these features needs to be present. The third entity may develop as the disease progresses. We report a case of a 35-year-old female patient with a history of seizure from the age of 11 years, who was managed with anticonvulsant drugs. With worsening of the seizure episodes, patient was diagnosed to have hypoparathyroidism together with the manifestations of oral candidiasis, nails dystrophy, enamel hypoplasia, and hypogonadism. A diagnosis of APS-1 was considered. The facility for genetic analysis of the AIRE gene mutation was not accessible, as the test costs were prohibitive and not affordable for the patient. Patient management was directed to treating individual disease components. However, cerebral and dental changes were irreversible.

scholarly journals Spontaneous autoimmunity prevented by thymic expression of a single self-antigen

2006 ◽  
Vol 203 (12) ◽  
pp. 2727-2735 ◽  
Author(s):  
Jason DeVoss ◽  
Yafei Hou ◽  
Kellsey Johannes ◽  
Wen Lu ◽  
Gregory I. Liou ◽  
...  
Keyword(s):  
Autoimmune Polyglandular Syndrome ◽  
Aire Gene ◽  
Interphotoreceptor Retinoid Binding Protein ◽  
Organ Specific ◽  
Autoimmune Polyglandular Syndrome Type ◽  
Self Antigen ◽  
Critical Process ◽  
Deficient Mice ◽  
Self Antigens

The expression of self-antigen in the thymus is believed to be responsible for the deletion of autoreactive T lymphocytes, a critical process in the maintenance of unresponsiveness to self. The Autoimmune regulator (Aire) gene, which is defective in the disorder autoimmune polyglandular syndrome type 1, has been shown to promote the thymic expression of self-antigens. A clear link, however, between specific thymic self-antigens and a single autoimmune phenotype in this model has been lacking. We show that autoimmune eye disease in aire-deficient mice develops as a result of loss of thymic expression of a single eye antigen, interphotoreceptor retinoid-binding protein (IRBP). In addition, lack of IRBP expression solely in the thymus, even in the presence of aire expression, is sufficient to trigger spontaneous eye-specific autoimmunity. These results suggest that failure of thymic expression of selective single self-antigens can be sufficient to cause organ-specific autoimmune disease, even in otherwise self-tolerant individuals.

scholarly journals Defective Suppressor Function of Human CD4+ CD25+ Regulatory T Cells in Autoimmune Polyglandular Syndrome Type II

2004 ◽  
Vol 199 (9) ◽  
pp. 1285-1291 ◽  
Author(s):  
Martin A. Kriegel ◽  
Tobias Lohmann ◽  
Christoph Gabler ◽  
Norbert Blank ◽  
Joachim R. Kalden ◽  
...  
Keyword(s):  
T Cells ◽  
Regulatory T Cells ◽  
Autoimmune Diseases ◽  
Type I ◽  
Type Ii ◽  
Central Tolerance ◽  
Autoimmune Polyglandular Syndrome ◽  
Healthy Donors ◽  
Organ Specific ◽  
Autoimmune Polyglandular Syndrome Type

In autoimmune polyglandular syndromes (APS), several organ-specific autoimmune diseases are clustered. Although APS type I is caused by loss of central tolerance, the etiology of APS type II (APS-II) is currently unknown. However, in several murine models, depletion of CD4+ CD25+ regulatory T cells (Tregs) causes a syndrome resembling human APS-II with multiple endocrinopathies. Therefore, we hypothesized that loss of active suppression in the periphery could be a hallmark of this syndrome. Tregs from peripheral blood of APS-II, control patients with single autoimmune endocrinopathies, and normal healthy donors showed no differences in quantity (except for patients with isolated autoimmune diseases), in functionally important surface markers, or in apoptosis induced by growth factor withdrawal. Strikingly, APS-II Tregs were defective in their suppressive capacity. The defect was persistent and not due to responder cell resistance. These data provide novel insights into the pathogenesis of APS-II and possibly human autoimmunity in general.

Atypical presentation of autoimmune polyglandular syndrome type 1 in the fifth decade

2021 ◽  
Vol 14 (4) ◽  
pp. e241680
Author(s):  
Aditya Sanjeevi ◽  
Adlyne Reena Asirvatham ◽  
Karthik Balachandran ◽  
Shriraam Mahadevan
Keyword(s):  
Adrenal Insufficiency ◽  
Vitamin D Supplementation ◽  
Chronic Mucocutaneous Candidiasis ◽  
Syndrome Type ◽  
Primary Amenorrhoea ◽  
Autoimmune Polyglandular Syndrome ◽  
Nail Changes ◽  
History Of ◽  
Autoimmune Polyglandular Syndrome Type

A 45-year-old woman presented to us with a short-term history of nausea, vomiting and giddiness. On arrival at our hospital, examination revealed postural hypotension. Fluid resuscitation with intravenous normal saline was commenced. She also had chronic mucocutaneous candidiasis and nail changes suggestive of ectodermal dystrophy. Detailed history taking revealed that she had never attained menarche. Serum biochemistries showed hyponatraemia, hyperkalaemia, and hypocalcaemia (sodium, 127 mEq/L; potassium, 6 mEq/L; and albumin-corrected calcium, 6 mg/dL). Adrenocorticotropic hormone-stimulated cortisol (16.7 mcg/dL) was suboptimal favouring adrenal insufficiency. She was started on hydrocortisone and fludrocortisone supplementation. Additionally, the parathyroid hormone was inappropriately low (3.8 pg/mL) confirming hypoparathyroidism. Oral calcium and active vitamin D supplementation were added. With the above clinical and biochemical picture, namely, clustering of primary amenorrhoea, adrenal insufficiency and hypoparathyroidism, the diagnosis pointed towards autoimmune polyglandular syndrome. Genetic workup revealed a deletion in exon 8 of the autoimmune regulator gene confirming the diagnosis of autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy/autoimmune polyglandular syndrome type 1 .

scholarly journals Autoimmune Polyglandular Syndrome Type 2 (APS-2) in a 70-Year-Old Woman: A Case Report

2019 ◽  
Vol 27 (124) ◽  
pp. 47-51
Author(s):  
Shahin Besharati ◽  
Pouria Tavakkolian ◽  
Roghayeh Borji ◽  
◽  
◽  
...  
Keyword(s):  
Case Report ◽  
Syndrome Type ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type

Alka Ptonuria Disorder

2021 ◽  
pp. 364-366
Author(s):  
Bhawan B. Bhende
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Homogentisic Acid ◽  
Dark Urine ◽  
Disease Modifying Therapy ◽  
Collagenous Tissue ◽  
Reduce Life Expectancy ◽  
Recent Developments ◽  
History Of

Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA). Characteristically, the excess HGA means sufferers pass dark urine, which upon standing turns black. This is a feature present from birth. Over time patients develop other manifestations of AKU, due to deposition of HGA in collagenous tissue namely ochronosis and ochronotic osteoarthropathy. Although this condition does not reduce life expectancy, it significantly affects quality of life. The natural history of this condition is becoming better understood, despite gaps in knowledge. Clinical assessment of the condition has also improved along with the development of a potentially disease-modifying therapy. Furthermore, recent developments in AKU research have led to new understanding of the disease, and further study of the AKU arthropathy has the potential to influence therapy in the management of osteoarthritis.

scholarly journals Asystole in an older patient with recurrent falls. Case report

Case reports ◽  
2020 ◽  
Vol 6 (1) ◽  
pp. 77-83
Author(s):  
William Fernando Bautista-Vargas
Keyword(s):  
Case Report ◽  
Older Patients ◽  
Implantable Devices ◽  
Loop Recorder ◽  
General Terms ◽  
Recurrent Falls ◽  
History Of ◽  
Rule Out

Introduction: Recurrent falls are a usual problema in older patients. It is therefore important to learn how to differentiate a pathological or syncopal episode from a simple stumbling fall, especially in patients who have limitations for communicating clearly and are poorly understood, in general terms, during the medical consultation. Implantable loop recorders (ILR) have been used as an investigation tool in selected cases of recurrent falls in older patients. Consequently, this case report aims to describe its usefulness in this type of patients.Case presentation: An 87-year-old female patient, hypertensive, with a history of recent stroke and frequent falls —referred to as stumbling—, received an implantable loop recorder due to atrial fibrillation. During one follow-up appointment, a 36-second pause related to a fall was documented, so a bicameral pacemaker was implanted.Conclusions: Evaluating repeated falls in older patients is complex; it must be done in detail to rule out syncopal episodes. Implantable devices to diagnose arrhythmic causes are useful and allow achieving accurate diagnoses and establish specific behaviors aimed at improving the quality of life of patients.

President John F Kennedy’s medical history: coeliac disease and autoimmune polyglandular syndrome type 2

2020 ◽  
Vol 96 (1139) ◽  
pp. 543-549
Author(s):  
Donatella Macchia ◽  
Donatella Lippi ◽  
Raffaella Bianucci ◽  
Simon Donell
Keyword(s):  
Coeliac Disease ◽  
Medical History ◽  
Gastrointestinal Symptoms ◽  
Pain Syndrome ◽  
Syndrome Type ◽  
Autoimmune Polyglandular Syndrome ◽  
History Of ◽  
Autoimmune Polyglandular Syndrome Type ◽  
Back Problem

President John F. Kennedy (JFK) had a complex medical history that is now thought to be an autoimmune polyglandular syndrome type 2 with Addison’s disease and hypothyroidism. He also had gastrointestinal symptoms from adolescence, which now fit well with coeliac disease. In addition, he had a chronic back problem, which contributed to a chronic pain syndrome. This review looks at JFK’s various diseases and focusses on the history of coeliac disease, as well as its presentation. JFK’s Irish ancestry supports the hypothesis of a coeliac disease started early in his youth.

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