“Chédiak-Higashi syndrome is an autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport,” (Nowicki ,“Chediak-Higashi Syndrome,” para.2). It is caused by mutations of the LYST gene which is also known as the CHS1 gene. This gene makes “a protein known as the lysosomal trafficking regulator,” (Genetics Home Reference, January 2014). They cause the lysosome to enlarge which ultimately causes problems with normal cell function. “Patients with Chédiak-Higashi syndrome exhibit alterations in neutrophils. These alterations include neutropenia, which may be profound; decreased deformability, resulting in impaired chemotaxis; and delayed phagolysosomal fusion, resulting in impaired bactericidal activity.” (“Chediak-Higashi Syndrome Clinical Presentation,” 3/5/13, Causes para. 2). Chediak-Higashi syndrome can also be called: CHS and oculocutaneous albinism with leukocyte defect.
People of any race and gender can develop this disease. Both parents must carry the gene for the child to be born with it. The parents that carry the gene will not show symptoms since it is a recessive gene. This a very rare disease that has only affected about 200 people worldwide. Most children that are diagnosed with this disease die before reaching the age of 10 resulting in very few children reaching adulthood that are diagnosed. The children affected has frequent serious and life-threatening infections due to their lowered immune system, and they are warned to refrain from doing physical activities because of the complications that can occur. CHS is normally diagnosed through a blood test where large granules are seen in the red blood cells and white blood cells and can also been seen in some of the skin cells. It can also be diagnosed before a child is born by taking a blood sample and examining their white blood cells. People that are infected with this disease have oculocutaneous albinism. Individuals affected have a lack of color in their skin, hair, and eyes and sometimes a metallic sheen can be seen. “In pigment cells, abnormally large structures called melanosomes (related to lysosomes) produce and distribute melanin, the pigment that gives color to the skin, hair, and eyes. People with CHS have albinism because melanin is trapped within the larger cell structures,” (“As Rare as it Gets: Chediak Higashi Syndrome,” 8/15/12, para.5). They also tend to have nystagmus or better known as rapid eye movement which is often seen in people with albinism. People infected tend to develop lymphoma-like symptoms as well. Children are often born with gingivitis and oral ulcerations. Some of the complications due to Chediak-Higashi Syndrome are “frequent infections especially with Epstein-Barr virus, lymphoma-like cancer, and early death,” (“Chediak-Higashi Syndrome,” NY Times, 9/8/2013, para. 7) There are two types of Chediak-Higashi Syndrome: The classic form and the late-onset form. …show more content…
The classic form is strictly a congenital disease. Approximately 85% of children in this form progress into an accelerated phase which is the result of the white blood cells repeatedly dividing which can end up causing fever, abnormal bleeding, serious infections, enlargement of organs such as the liver, spleen, and lymph nodes, and ultimately organ failure. (“As Rare as it Gets: Chediak Higashi Syndrome,” 8/15/12, para. 12). The late-onset form develops during late childhood-adulthood. The late-onset also has less severe symptoms than the classic form. People that have been diagnosed with the late-onset form end up having nervous system problems which include seizures, tremors, difficulty walking, and tend to be more clumsy. People with the late-onset can also develop dementia and Parkinsonism. It can infect many parts of the body but it primarily affects the immune system. “It damages immune system cells, leaving them less able to fight off invaders such as viruses and bacteria,” (Genetics Home Reference, January 2014). People with this have problems with blood clotting which causes them to bruise easily. “Organs of the body including the lungs, brain, kidneys, adrenal glands, and/or liver may have impaired function in some cases,” (“Chediak Higashi Syndrome,”2009, Signs and Symptoms para. 4). There is no treatment to cure people infected with CHS but there are treatments to help relieve some of the symptoms of the disease. The only treatment that seems to be successful for prolonging the life of someone with this disease
People of any race and gender can develop this disease. Both parents must carry the gene for the child to be born with it. The parents that carry the gene will not show symptoms since it is a recessive gene. This a very rare disease that has only affected about 200 people worldwide. Most children that are diagnosed with this disease die before reaching the age of 10 resulting in very few children reaching adulthood that are diagnosed. The children affected has frequent serious and life-threatening infections due to their lowered immune system, and they are warned to refrain from doing physical activities because of the complications that can occur. CHS is normally diagnosed through a blood test where large granules are seen in the red blood cells and white blood cells and can also been seen in some of the skin cells. It can also be diagnosed before a child is born by taking a blood sample and examining their white blood cells. People that are infected with this disease have oculocutaneous albinism. Individuals affected have a lack of color in their skin, hair, and eyes and sometimes a metallic sheen can be seen. “In pigment cells, abnormally large structures called melanosomes (related to lysosomes) produce and distribute melanin, the pigment that gives color to the skin, hair, and eyes. People with CHS have albinism because melanin is trapped within the larger cell structures,” (“As Rare as it Gets: Chediak Higashi Syndrome,” 8/15/12, para.5). They also tend to have nystagmus or better known as rapid eye movement which is often seen in people with albinism. People infected tend to develop lymphoma-like symptoms as well. Children are often born with gingivitis and oral ulcerations. Some of the complications due to Chediak-Higashi Syndrome are “frequent infections especially with Epstein-Barr virus, lymphoma-like cancer, and early death,” (“Chediak-Higashi Syndrome,” NY Times, 9/8/2013, para. 7) There are two types of Chediak-Higashi Syndrome: The classic form and the late-onset form. …show more content…
The classic form is strictly a congenital disease. Approximately 85% of children in this form progress into an accelerated phase which is the result of the white blood cells repeatedly dividing which can end up causing fever, abnormal bleeding, serious infections, enlargement of organs such as the liver, spleen, and lymph nodes, and ultimately organ failure. (“As Rare as it Gets: Chediak Higashi Syndrome,” 8/15/12, para. 12). The late-onset form develops during late childhood-adulthood. The late-onset also has less severe symptoms than the classic form. People that have been diagnosed with the late-onset form end up having nervous system problems which include seizures, tremors, difficulty walking, and tend to be more clumsy. People with the late-onset can also develop dementia and Parkinsonism. It can infect many parts of the body but it primarily affects the immune system. “It damages immune system cells, leaving them less able to fight off invaders such as viruses and bacteria,” (Genetics Home Reference, January 2014). People with this have problems with blood clotting which causes them to bruise easily. “Organs of the body including the lungs, brain, kidneys, adrenal glands, and/or liver may have impaired function in some cases,” (“Chediak Higashi Syndrome,”2009, Signs and Symptoms para. 4). There is no treatment to cure people infected with CHS but there are treatments to help relieve some of the symptoms of the disease. The only treatment that seems to be successful for prolonging the life of someone with this disease