scholarly journals Differential Diagnosis between Ulcerative Colitis and Clostridium Difficile-Associated Disease in a Patient with Autoimmune Polyglandular Syndrome Type 1

Author(s):  
Elizaveta A. Trush ◽  
Alexander V. Korolev ◽  
Elena A. Poluektova ◽  
Pavel V. Pavlov ◽  
Maria G. Pavlova ◽  
...  

Aim:to demonstrate the clinical picture and the tactics of differential diagnosis between ulcerative colitis andClostridiumdifficile-associated disease in a patient with APS-1, as well as to describe the tactics of managing such patients.Key findings.A 25-year-old patient with autoimmune polyglandular syndrome type 1 (APS-1) complained of loose stools up to 10 times a day with blood admixture, rapidly growing weakness and a weight loss of 5 kg per week. When examined on the day of admission, surgical pathology was excluded. Further differential diagnostics betweenClostridiumdifficile-associated disease and ulcerative colitis was carried out, with the possibility of combining these diseases being not excluded. The examination confirmedClostridiumdifficile-associated disease, while the diagnosis of ulcerative colitis needed further verification. APS-1 is often combined with other diseases and is likely to be pathogenetically related with them; however, the mechanisms of such interrelations still remain unknown. Previous research has reported the relationship between APS-1 and clostridial infection. The combination of ulcerative colitis with APS-1 has not thus far been described.Conclusion.A specific feature of the described clinical case consists in the development of severeClostridiumdifficile-associated disease against the background of autoimmune polyglandular syndrome type 1. The management of patients with APS-1 should take into account the possibility of developing a clostridial infection, since these diseases can co-occur. When treating a patient with APS-1 in non-endocrine hospital units, consultation with an endocrinologist is necessary.

2021 ◽  
Vol 14 (4) ◽  
pp. e241680
Author(s):  
Aditya Sanjeevi ◽  
Adlyne Reena Asirvatham ◽  
Karthik Balachandran ◽  
Shriraam Mahadevan

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 .


2019 ◽  
Vol 47 (2) ◽  
pp. 175-179
Author(s):  
V. V. Troshina ◽  
T. A. Grebennikova ◽  
Zh. E. Belaya

The article describes a clinical case of primary adrenal insufficiency which manifested at an atypically advanced age. Primary adrenal insufficiency combined with other clinical symptoms suggested the autoimmune polyendocrine syndrome type 1. Subsequently, the diagnosis was confirmed by the results of genetic testing. The particulars of the clinical case include the age of patient at manifestation of the disease (49  years). The lack of treatment resulted in dramatic clinical decompensation. This clinical case is intended to draw clinicians' attention to the necessity of detection of primary adrenal insufficiency and appropriate and timely treatment. Taking into account eventual diagnostic problems, it is necessary to raise awareness about this disease among practicing doctors of various specialties.


1998 ◽  
Vol 103 (6) ◽  
pp. 681-685 ◽  
Author(s):  
Cong-Yi Wang ◽  
Abdoreza Davoodi-Semiromi ◽  
W. Huang ◽  
Ellen Connor ◽  
Jing-Da Shi ◽  
...  

Neurology ◽  
2008 ◽  
Vol 70 (23) ◽  
pp. 2248-2251 ◽  
Author(s):  
J. R. Berger ◽  
A. Weaver ◽  
J. Greenlee ◽  
G. E. Wahlen

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