CHEDIAK - HIGASHI SYNDROME

 

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CHEDIAK - HIGASHI SYNDROME

                Chediak-Higashi syndrome (CHS) is a rare, inherited, complex, immune disorder that usually occurs in childhood characterized by reduced pigment in the skin and eyes (oculocutaneous albinism), immune deficiency with an increased susceptibility to infections, and a tendency to bruise and bleed easily.CHS is an inherited condition caused by a defect in the LYST gene (also called the CHS1 gene). The LYST gene gives the body instructions on how to make the protein that’s responsible for transporting certain materials to your lysosomes.

                                             Lysosomesare structures inside some of your cells that break down toxins, destroy bacteria, and recycle worn out cell components. The defect in the LYST gene causes the lysosomes to grow too large. The enlarged lysosomes interfere with normal cell functions. They prevent cells from seeking out and killing bacteria, so your body isn’t able to protect itself from recurring infections.In pigment cells, abnormally large structures called melanosomes (related to lysosomes) produce and distribute melanin. Melanin is the pigment that gives color to skin, hair, and eyes. People with CHS have albinism because melanin is trapped within the larger cell structures.Chediak-Higashi is an autosomal recessive inherited disorder. Both parents of a child with this type of genetic disorder carry a copy of the defective gene, but they usually don’t show signs of the condition.If only one parent passes on the defective gene, the child won’t have the syndrome but may be a carrier. That means they could pass the gene on to their children.

Clinical Information

• A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the aleutian mink, and albino hereford cattle.
• A rare autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport. Chediak-higashi syndrome (chs) is characterized by immune deficiency; partial oculocutaneous albinism; a bleeding disorder due to deficient platelet dense bodies; neutropenia; neutrophils with impaired chemotaxis and bactericidal activity; recurrent infection; and abnormal natural killer (nk) cell function. Chs may be associated with hepatosplenomegaly, lymphadenopathy, anemia, thrombocytopenia, roentgenologic changes in bones, lungs and heart, and skin and psychomotor abnormalities; it is often fatal in childhood as a result of infection or an accelerated lymphoma-like phase. Chs occurs in mink, cattle, and mice, as well as man.
• Form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections; in many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions; transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the aleutian mink, and albino hereford cattle.

Symptoms of classic CHS include:

• brown or light-colored hair with a silvery sheen
• light colored eyes
• white or grayish skin tone
• nystagmus (involuntary eye movements)
• frequent infections in the lungs, skin, and mucous membranes

Other symptoms that infants or young children with CHS may experience are:

• poor vision
• photophobia (eyes are sensitive to bright light)
• slowed mental development
• blood clotting problems resulting in abnormal bruising and bleeding

According to a study, roughly 85 percent of children with CHS reach a severe stage called the accelerated phase. Scientists think the accelerated phase is triggered by a viral infection.

During this phase, abnormal white blood cells divide rapidly and uncontrollably, which can cause:

• fever
• abnormal bleeding
• infections
• organ failure

Older children and adults with late-onset CHS have milder symptoms, less noticeable pigmentation issues, and fewer infections. They may still develop seizures and nervous system problems that can cause:

• weakness
• tremors (involuntary shaking)
• clumsiness
• difficulty walking

Treatment

• Supportive care using antibiotics, interferon gamma and sometimes corticosteroids

• Hematopoietic stem cell transplantation

Prophylactic antibiotics can help prevent infections, and interferon gamma can help restore some immune system function. Pulse doses of corticosteroids and splenectomy sometimes induce transient remission of Chédiak-Higashi syndrome.

However, unless hematopoietic stem cell transplantation is done, most patients with Chédiak-Higashi syndrome die of infections by age 7 years. Transplantation of unfractionated human leukocyte antigen (HLA)-identical bone marrow after pretransplantation cytoreductive chemotherapy may be curative. Five-year posttransplantation survival rate is about 60%.