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Underlying causes of adrenal insufficiency include hereditary (congenital) adrenal hyperplasia (CAH) and autoimmune adrenocortical destruction leading to autoimmune Addison's disease (AAD).
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Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Chromosome | F2 |
| Mutation | c.1151G>A |
| Mode of Inheritance | Autosómico recesivo |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Also known as | CAH |
Información específica de la prueba
Underlying causes of adrenal insufficiency include hereditary (congenital) adrenal hyperplasia (CAH) and autoimmune adrenocortical destruction leading to autoimmune Addison’s disease (AAD).
Congenital Adrenal Hyperplasia (CAH) is a genetic disorder that affects the adrenal glands in cats. In this condition, the adrenal glands do not produce enough of certain hormones, such as cortisol and aldosterone. This hormonal imbalance can lead to a variety of symptoms and health issues in affected cats.
This mutation is inherited in an autosomal recessive way and can manifest in kittens from a young age. The specific gene mutation tested here is a mutation in the CYP11B1 gene. The CYP11B1 gene encodes for 11β-hydroxylase. A 11β-hydroxylase deficiency results in abnormal hormone levels.
Características clínicas
Aunque la CAH es un trastorno genético, los signos clínicos pueden hacerse evidentes en una etapa posterior de la vida y pueden variar desde hipertensión, poliuria y sed excesiva hasta características sexuales secundarias y anomalías de comportamiento.
Información adicional
La hiperplasia suprarrenal congénita (HSC) solo se ha reportado en gatos dos veces; Sin embargo, debe considerarse como un diagnóstico potencial en gatos que presentan síntomas específicos consistentes con las características clínicas de la afección.
Referencias
Pubmed ID: 22827537
Year published: 2012
Omia ID: 1661
Omia variant ID: 117