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Chédiak-Higashi syndrome : ウィキペディア英語版
Chédiak–Higashi syndrome

Chédiak–Higashi syndrome is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, partial albinism and peripheral neuropathy. It occurs in humans, cattle, blue Persian cats, Australian blue rats,〔(Australian blue rats: a hypothesis )〕 mice,〔(Australian blue rats: a hypothesis )〕 mink,〔 foxes,〔 and the only known captive albino orca.〔(The Orca Ocean )〕
==Signs and symptoms==
People with CHS have light skin and silvery hair (partial albinism) and frequently complain of solar sensitivity and photophobia. Other signs and symptoms vary considerably, but frequent infections and neuropathy are common. The infections involve mucous membranes, skin, and the respiratory tract. Affected children are susceptible to infection by Gram-positive and gram-negative bacteria and fungi, with ''Staphylococcus aureus'' being the most common infection cause. Neuropathy often begins in the teenage years and becomes the most prominent problem. Infections in CHS patients tend to be very serious and even life-threatening; few patients with this condition live to adulthood.
Most children with Chédiak–Higashi syndrome ultimately reach a stage known as the accelerated phase, also known as the lymphoma-like-syndrome. In the accelerated phase, defective white blood cells divide uncontrollably and invade many of the body's organs. The accelerated phase is associated with fever, episodes of abnormal bleeding, overwhelming infections, and organ failure. These medical problems are usually life-threatening in childhood.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「Chédiak–Higashi syndrome」の詳細全文を読む



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