What is pseudopseudohypoparathyroidism?

pseudopseudo -parathyroidism, also known as pseudophp or PPHP, is a rare inherited disorder caused by an abnormal reaction to a parathore hormone. This disease can result in various mutations in the gene located on the twentieth chromosome. PereudophP patients usually develop hereditary osteodrophy (AHO), which causes abnormalities in the structure of bone and physical appearance. Unlike patients with pseudo -athyroidism (PHP), patients with pseudophP do not have abnormalities in their blood levels in minerals of calcium and phosphorus.

Mutation in a gene called Guanin Nucleotide protein protein and alpha-stimulatory activity 1 (GNAS-1) are responsible for the causes for the causes of A-Stimulation activity 1 (GNAS-1). Pseudopseudo -parathyroidism. Different families suffering from this disease showed different specific mutations in this gene. As a result of a sequence of changed deoxyribonucleic acid (DNA) GNAS-1, there is an abnormal cell reaction to the hormone of parathyroid. <<<<

patients withPseudopseudo -parathyroidism usually develops a state called AHO. These patients often have a characteristic appearance, including a round face, short figures and obesity. They usually have abnormal calcification in the whole body, which is also known as heterotopic calcification. In addition, patients with AHO may have bone deformities, including short fourth and fifth fingers and curves in weapons. Patients with AHO sometimes have deficits in their aromas and taste.

PHP is a term used to describe the disease caused by other mutations in Gnas-1. Unlike patients with pseudophp, these patients have abnormalities at the level of calcium and phosphate in the blood. Some patients with PHP also show characteristic physical findings AHO.

Despite the fact that patients with pseudopseudohypoparathyroidism have an abnormal response to the hormone of the body position, they usually have normal calcium and phosphate levels in the blood.This was somewhat unexpected for scientists who originally studied this disease, because the Paratyroid hormoon plays a decisive role in monitoring the levels of these minerals in the body. For this reason, pseudophp has labeled some of the PHP features, but does not affect the levels of minerals in the blood of the body.

Whether the patient is developing pseudophp or PHP may depend on which parent the individual has inherited a mutated copy of the GNAS-1. This genetic phenomenon is known as a otter. Patients receiving a mutated gene from their mothers develop problems with calcium and phosphate levels, because the mother gene is activated in the kidneys, organs that respond to the body network and can change the level of minerals in the blood. On the other hand, patients who receive a mutated gene from their fathers do not have a problem with mineral levels in their blood, because an unchanged copy of GNAS-1 is activated in the kidneys.