Polyglandular endocrine autoimmune deficiency syndromes Flashcards
1
Q
What is polyglandular autoimmune syndrome type 1?
A
AR disorder
Caused by mutation in AIRE gene (autoimmune regulator) on chromosome 21
* very rare
2
Q
What are the endocrine types of PAS type 1?
A
- Hypoparathyroidism
- ChronicMucocutaneouscandidiasis • Adrenalinsufficiency
- Primaryhypogonadism
- Hypothyroidism
- Type1diabetes
- Hypothyroidism
- Hypopituitarism
- Diabetesinsipidus
3
Q
What are the non-endocrine types of PAS type 1?
A
- Malabsorption syndromes
- Alopecia totalis or areata
- Pernicious anaemia
- Chronic active hepatitis
- Vitiligo
4
Q
What is polyglandular autoimmune syndrome type 2?
A
Inheritance can be AR, AD and polygenic
Associated with high titres of Ab to steroid producing cells (adrenal, thyroid, testis, ovary)
5
Q
What are the endocrine types of PAS type 2?
A
- Adrenal insufficiency
- Autoimmune thyroid disease
- Type 1 diabetes
- Primary hypogonadism
- Diabetes insipidus
6
Q
What are the non- endocrine types of PAS type 2?
A
- Vitiligo
- Alopecia
- Pernicious anaemia
- Myaesthenia gravis
- Immune thrombocytopenic purpura
- Sjogrens syndromes
- Rheumatoid arthritis
