Chédiak Higashi syndrome is an uncommon autosomal recessive disease that arises from a mutation of a lysosomal trafficking regulator protein, which contributes to a drop in phagocytosis. The drop in phagocytosis leads to recurrent pyogenic ailments, albinism and peripheral neuropathy. It happens in people, cows, blue Persian cats, Australian blue rats, mice, mink, foxes, and also the only famous captive white orca.
Signs and symptoms
People with CHS have light skin and silvery hair (albinism) and frequently complain of solar sensitivity and photophobia. Other symptoms and signs vary greatly, but common ailments and schizophrenia are typical. The ailments include mucous membranes, skin, and the lymph nodes. Affected children are prone to disease by Gram-positive and gram-negative germs and parasites, together with Staphylococcus aureus being the most frequent infection cause. Diseases in CHS patients have a tendency to be quite severe and even life-threatening. Neuropathy frequently starts in the teenage years and becomes the very prominent issue. Couple patients with this illness live to adulthood.
Most kids with Chédiak–Higashi syndrome finally reach a point called the “accelerated phase”, or even the “lymphoma-like syndrome”, where faulty white blood cells divide uncontrollably and interrupt lots of the human body’s organs. The accelerated stage is related to fever, episodes of abnormal bleeding, overwhelming diseases, and organ failure. These healthcare issues are often life-threatening in childhood.
Causes of Chédiak Higashi Syndrome
Mutations at the CHS1 gene (also referred to as LYST) are discovered to be linked with Chédiak–Higashi Syndrome. This gene provides instructions for making a protein referred to as the lysosomal trafficking regulator. Researchers feel that this protein plays a role in the transportation (trafficking) of substances to lysosomes. Lysosomes behave as recycling facilities inside tissues. They utilize digestive enzymes to break down toxic chemicals, digest germs which invade the cell, and recycle emptied cell parts. Even though the lysosomal trafficking regulator protein is included in the normal use of lysosomes, its precise function is unknown.
Treatment of Chédiak Higashi Syndrome
There’s not any particular cure for Chédiak–Higashi syndrome. Bone marrow transplants appear to have been effective in many patients. Infections are treated with antibiotics and abscesses are surgically drained when proper. Antiviral drugs like acyclovir have been attempted during the terminal stage of the disease. Cyclophosphamide and prednisone are attempted. Vitamin C treatment has enhanced immune function and reduction in certain patients.
