What is Marfan syndrome in children?

Marfan syndrome is a genetic disease that causes great distress to people's lives. The symptoms include skeletal abnormalities, asymmetrical fingers and limbs, abnormally high height, and severe cases may affect the health of other organs, especially the lungs and eyes. So what is the cause of this disease? What measures should we take to prevent and treat it?

Marfan syndrome is also known as congenital mesodermal dysplasia, Marchesani syndrome, spider sign, and limb elongation. It is characterized by peripheral connective tissue dystrophy, skeletal abnormalities, internal eye disease and cardiovascular abnormalities. It is a hereditary disease with a basic defect in connective tissue. Wandering kidney is one of the associated symptoms of Marfan syndrome. Why does this symptom occur?

Causes:

It is an autosomal dominant hereditary disease, and some cases are autosomal recessive. The specific cause of the disease is unknown, but it is believed to be related to congenital abnormalities in protein metabolism. Dietz et al. (1991) located the disease gene at 15q15-q21.3 through family linkage analysis.

In many tissues of the human body, such as the endocardium, heart valves, large blood vessels, bones, etc., there is accumulation of mucopolysaccharides such as chondroitin sulfate A or C, which affects the structure and function of elastic fibers and other connective tissue fibers, causing the corresponding organs to develop poorly and have functional abnormalities.

Abraham et al. (1982) proposed that abnormal aortic elastin, decreased desmosomal and isodesmosomal proteins, and a corresponding increase in lysine residues are the main changes in this disease. The patient's urine excretion of hydroxyproline is increased, and the levels of mucin and mucopolysaccharide in the blood are also increased.

Autosomal dominant genetic disease can be inherited from either parent, and the incidence rate of their children is about 50%.