Hypoparathyroidism familial isolated

Familial Isolated Hypoparathyroidism is a rare endocrine disorder characterized by insufficient production of parathyroid hormone (PTH) by the parathyroid glands. This condition leads to hypocalcemia (low levels of calcium in the blood) and hyperphosphatemia (high levels of phosphate in the blood), which can cause a variety of symptoms including tetany (involuntary muscle contractions), seizures, and dental abnormalities. Familial isolated hypoparathyroidism is inherited in an autosomal dominant or autosomal recessive manner, depending on the genetic mutation involved.

Causes

Familial isolated hypoparathyroidism is caused by genetic mutations that affect the development or function of the parathyroid glands. Several genes have been associated with this condition, including GCM2, PTH, and CASR (calcium-sensing receptor). Mutations in these genes can lead to a decrease in PTH production or secretion.

Symptoms

The symptoms of familial isolated hypoparathyroidism can vary widely among affected individuals, but commonly include:

• Tetany
• Seizures
• Dental abnormalities
• Cataracts
• Calcium deposits in the brain
• Muscle cramps
• Fatigue

Diagnosis

Diagnosis of familial isolated hypoparathyroidism is based on clinical symptoms, blood tests showing low calcium and high phosphate levels, and low or inappropriately normal PTH levels. Genetic testing can confirm the diagnosis by identifying mutations in the associated genes.

Treatment

Treatment focuses on managing symptoms and normalizing calcium and phosphate levels in the blood. This typically involves supplements of calcium and vitamin D to increase calcium levels. In some cases, PTH replacement therapy may be considered.

Prognosis

With appropriate treatment, individuals with familial isolated hypoparathyroidism can manage their symptoms and lead relatively normal lives. However, they will require lifelong monitoring and treatment to maintain normal calcium and phosphate levels.

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