Shwachman-Diamond Syndrome

Summarized by Plex Health
Last Updated: 07 May 2022
shwachman-diamond syndrome: first molecular diagnosis in a brazilian child. "shwachman-diamond syndrome: first molecular diagnosis in a brazilian child.", by Alves C, Fernandes JC, Sampaio S, Paiva Rde M, Calado RT. f01: Metaphyseal chondrodysplasia, sclerosis and pseudocysts in radial, humeral, ulnartibial and femoral metaphysis...

Shwachman-Diamond syndrome is an acquired condition that impacts many components of the body, especially the bone marrow, pancreas, and bones. The major function of bone marrow is to create new blood cells. These consist of red blood cells, which bring oxygen to the body's cells; leukocyte, which deal with infection; and platelets, which are blood cells that are essential for normal blood clot. In Shwachman-Diamond syndrome, the bone marrow malfunctions and does not make some or all types of white blood cells. A shortage of neutrophils, the most common type of white blood cell, causes a condition called neutropenia. Most individuals with Shwachman-Diamond syndrome have at least occasional episodes of neutropenia, that makes them more prone to infections, frequently involving the lungs, ears, or skin. Much less commonly, bone marrow problems lead to a scarcity of red blood cells, which causes fatigue and weak point, or a reduction in the amount of platelets, which can lead to simple discoloration and abnormal blood loss. People with Shwachman-Diamond syndrome have an increased risk of numerous severe issues connected to their defective bone marrow. Shwachman-Diamond syndrome also impacts the pancreatic, which is an organ that plays an essential role in food digestion. In most infants with Shwachman-Diamond syndrome, the pancreas does not generate sufficient of these enzymes. Pancreatic insufficiency typically boosts with age in people with Shwachman-Diamond syndrome. The combination of skeletal irregularities and slow-moving development results in brief stature in most individuals with this disorder. In addition, studies suggest that Shwachman-Diamond syndrome may be connected with delayed speech and the postponed growth of motor abilities such as resting, standing, and walking.

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