Albright syndrome

Albright syndrome's disease overview

What is

What is Albright syndrome?

Albright syndrome has the full name of MC Cune-Albright syndrome, which is a typical syndrome with multiple organs, including skin, bones and endocrine glands. Although the disease occurs due to a gene mutation that encodes G protein complex, thereby increasing the function of the skin, bones and endocrine glands, the disease is not inherited from parents to children. This is a rare disorder, which can affect both sexes, of which girls in the age of children and teenagers meet more.

Albright syndrome dangerous? Typical Albright syndrome has the following characteristic clinical manifestations:

Abnormal pale brown skin pigmentation like milk coffee

multi -bone fiber disorders, replacing normal bone tissue

Early puberty, common in girls.

The lesions that the disease cause are quite diverse, depending on the level of disorders on each patient. The possible complications include aesthetic problems, osteoporosis, bone tumors, blindness or deafness. The treatment of Albright syndrome today still has many challenges because there is no specific treatment.

With the above characteristics, it can conclude that, although the MC Cun-Alright syndrome is not common and not malignant, but the disease causes many damage to multiple organs in the body, affecting Very large to movement, vision, hearing and other independent functions and impaired the quality of life of patients.

Causes of Albright syndrome's disease

The cause of the Albright syndrome has been determined by mutations on GNAS1 gene. This is the gene responsible for encrypting a part of the G protein complex. This complex plays a role in stimulating the activity of the enzyme Adenylate Cyclase (Camp), affecting the function of cells in many organs such as skin, bone , endocrine glands. In Albright syndrome, the final result is the strengthening of the functions of the above agencies. The number and position of cells with the GNAS gene mutant determining the severity of the disease.

This gene mutation occurs randomly after fertilization due to the impact of environmental factors so there is no genetic. Parents have Albright syndrome without genetic mutations that cause disease for their children. However, the reason for the GNAS1 gene mutation is still unknown.

Symptoms of Albright syndrome's disease

Many organs are affected at the same time in patients with Albright syndrome, the most prominent is the skin, bone and endocrine system.

abnormalities in bone

The most common disorder in the bone is multi -bone fiber dysplasia, in which normal bone cells are replaced by fibrous tissue. This makes bones grow asynchronous, leading to bone deformation, bone pain and fracture in more than 85% of patients.

ribs, skull, face, pelvis and lower limb bones are the most commonly affected positions. Some patients suffer from dwarf caused by early bone -headized phenomenon. Other symptoms that the patient may experience due to strong bone cells developing, compression of surrounding organizations such as the head bones of the face of the blood vessels that can cause headaches, tinnitus, reduced, reducing ear Hearing, protruding eyes, disproportionate sides of the face.

Unusual skin

It is the appearance of pale yellow -brown skin patches like milk coffee due to increased melanin pigment production. This pigmentation is usually seen immediately after birth on one side of the body with unclear boundaries. The size of the skin area changes, sometimes large in the buttocks of the buttocks.

Abnormalities in endocrine glands

The most prominent manifestation is early puberty, common in women, usually the first symptom of the disease. Large breasts, pubic hair hair growth can appear from childhood. Menstrual period can occur before the age of two. This is the result of an increase in the function of the ovaries.

Besides, some patients also face other endocrine disorders such as

hyperthyroidism: tachycardia, a thrilling feeling of hitting chest drum, tremor, sweating, weight loss

Pituitary gland: To the head

Cushing syndrome

Transmission route of Albright syndrome's diseaseAlbright syndrome

The cause of Albright syndrome is not related to bacteria, viruses, and parasites, so the disease is not contagious. Good people in common contact with patients with Albright syndrome are not infected.

People at risk for Albright syndrome's disease

Albright syndrome appears due to mutations on GNAS gene, but the reason for this gene mutation has not been well understood. Therefore, it is difficult to determine what is the risk of the disease. The MC Cun-Alright syndrome can affect all ages and in both sexes. Therefore, when recognizing suspicious manifestations, patients need to be taken to medical centers for early examination and diagnosis.

Prevention of Albright syndrome's disease

Because of the reasons for the GNAS gene mutation in the Albright syndrome is not well known, there is currently no measure to reduce the likelihood of the disease.

For patients who have been diagnosed with Albright syndrome, some of the separate design exercises can be applied to strengthen the muscles around the bone and help prevent fracture complications. P>

Diagnostic measures for Albright syndrome's disease

Albright syndrome has its own specific clinical manifestations, but if you want to accurately diagnose the disease, you need to coordinate other supportive facilities such as:

Blood test: quantifies hormones of endocrine glands such as growth hormones, adrenal gland hormones, parathyroid glands, thyroid glands, ovarian estrogen.

Quantifying phosphorus in the blood

CT scan X -ray detect abnormal bone growth in different positions, including inside the skull. Sometimes the image of the pituitary gland is sometimes detected.

MRI head area detects complications such as optic compression

gene analysis determines the GNAS1 gene mutation

Albright syndrome's disease treatments

There is no specific treatment for Albright syndrome. Currently, treatment is only supportive, solving symptoms, changes depending on the degree of expression of the disease.

Conservation treatment

The drug is indicated to solve the symptoms of the patient, without intervention. Common painkillers such as paracetamol and nonsteroidal anti -inflammatory drugs can be used to reduce bone pain. Vitamin D and calcium can be supplemented to prevent secondary biased by secondary parathyroids. Pamidronate is a commonly prescribed drug, which reduces blood calcium levels, minimizes the risk of fractures and reduces symptoms of bone pain. Testolactone has the effect of inhibiting estrogen production has also been tested successfully.

Pathological fractures in patients with Albright syndrome can also be successfully treated.

The use of specific drugs depends on each specific case, the patient must not arbitrarily take the drug when there is no advice and prescription of the doctor.

Surgical surgery is indicated in some cases like

Pathological fractures in young patients, and in the lower limbs are weak, weak areas. Treatment of bone combination with screw split, or nailing; Later, you can dredge or transplant itself.

Cut the adrenal gland in Cushing syndrome

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