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Primary Hyperparathyroidism (PHPT) is an inherited disorder of calcium metabolism affecting the endocrine system, specifically the parathyroid glands.
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Specifiche
| Razza | |
|---|---|
| Gene | |
| Cromosoma | 20 |
| Mutation | c.193A>G |
| Tipo di Ereditarietà | Autosomico Dominante |
| Organo | |
| Campione | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Also known as | PHPT |
Informazioni generali
Primary Hyperparathyroidism (PHPT) is an inherited disorder of calcium metabolism affecting the endocrine system, specifically the parathyroid glands. It is characterised by excessive production of parathyroid hormone (PTH) by one or more parathyroid glands, resulting in increased calcium mobilisation and persistently elevated blood calcium levels (hypercalcaemia).
In Keeshonds, PHPT is strongly associated with a disease-associated variant in the sirtuin 6 (SIRT6) gene and is inherited in an autosomal-dominant manner. The variant is thought to disrupt the regulation of parathyroid function, leading to excessive PTH secretion and impaired calcium homeostasis.
Caratteristiche cliniche
The condition is typically late-onset, with clinical signs often developing after 8 years of age. Affected animals may show increased thirst (polydipsia) and urination (polyuria), lethargy, depression, reduced appetite, gastrointestinal problems, oral discomfort, or bone pain. Prolonged elevation of blood calcium can result in excessive loss of calcium from the bones, causing bone weakness and discomfort. Persistent hypercalcaemia can also damage the kidneys and may progress to kidney failure. Clinical signs may be subtle in the early stages and can therefore be mistaken for normal age-related changes.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 41134522
Year published: 2025
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