Schmidt's syndrome

[firoz borle]

hey guys cant find this one can any one please tell me what is Schmidt's syndrome?

[Ashwin Udyavar]

Autoimmune polyendocrine syndromes are a heterogeneous group of rare diseases characterised by autoimmune activity against more than one endocrine organs, although non-endocrine organs can be affected.

There are three "autoimmune polyendocrine syndromes", and a number of other diseases which have endocrine autoimmunity as one of their features.

 

Type 1
Autoimmune polyendocrine syndrome, type 1 is also known as the candidiasis-hypoparathyroidism-Addison's disease-syndrome after its main features:

A mild immune deficiency, leading to persistent mucosal and cutaneous infections with candida yeasts. There is also decreased function of the spleen (asplenism).

Autoimmune dysfunction of the parathyroid gland (leading to hypocalcemia) and the adrenal gland (Addison's disease: hypoglycemia, hypotension and severe reactions in disease).

Other disease associations are:

1. hypothyroidism
2. hypogonadism and infertility
3. vitiligo (depigmentation of the skin)
4. alopecia (baldness)
5. malabsorption
6. pernicious anemia
7. chronic active (autoimmune) hepatitis

As opposed to type 2, this syndrome inherits in an autosomal recessive fashion and is due to a defect in AIRE ("autoimmune regulator")

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Type-2

Autoimmune polyendocrine syndrome, type 2 (also known as "Schmidt's syndrome") is more heterogeneous, occurs more often and has not been linked to one gene. Rather, patients are at a higher risk when they carry a particular HLA genotype (DQ2, DQ8 and DRB1*0404).

Features of this syndrome are:

1. Addison's disease
2. hypothyroidism
3. diabetes mellitus (type 1)
4. less common associations:
5. hypogonadism
6. vitiligo

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XPID
The most serious but rarest form is the X-linked polyendocrinopathy, immunodeficiency and diarrhea-syndrome, also called IPEX.. This is due to mutation of the FOXP3 gene on the X chromosome.Most patients develop diabetes and diarrhea as neonates and many die due to autoimmune activity against many organs. Boys are affected, while girls are carriers and might suffer mild disease.

 

regards

Dr.Ashwin

[firoz borle]

thank you very much sir, thanks very much?

2008/8/20 Ashwin Udyavar <ashw...@gmail.com>