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1962年Menkes等描述了一种明显为伴性隐性遗传性疾病。此病由毛发异常(毛发色素脱失、扭发、念珠形发、结节性脆发症)、发育障碍、早产、癫痫发作、广泛的大脑变性及小脑萎缩等构成。Danks等的研究显示患者的血清铜都异常低下。以后的作者给以不同的名称,包括“毛发扭结病”,“Menkes钢毛病”,“灰发营养不良症”及“先天性低铜血症”等。本病已确定为一X-联隐性遗传病,患者均为男性,有人估计在澳大利Menkes综合征的发病率为35,000次活产中有1例。这些婴儿常早几周出生。在新生儿期,可有暂时的黄疸、体温不稳定或喂养困难等。以后由于疾病进展,表现症状以癫痫发作为最常见。可自发硬膜下血肿,发生张力亢进的肌肉紧张,自发运动减少。呼吸道感染常见,亦常为致
In 1962 Menkes et al. Described a clearly associated with recessive genetic disease. The disease consists of abnormal hair (hair loss, twisting, rosary, nodular brittleness), developmental disorders, premature birth, seizures, extensive brain degeneration, and cerebellar atrophy. Danks and other studies have shown that patients with abnormal serum copper are low. After the author to give a different name, including “kinky hair”, “Menkes steel disease”, “gray hair malnutrition” and “congenital hypokalemia” and so on. The disease has been identified as an X-linked recessive disorder, both men. Some estimate that the incidence of Menkes syndrome in Australia is 1 in 35,000 live births. These babies are born weeks early. In the neonatal period, there may be temporary jaundice, body temperature instability or feeding difficulties. Later, due to disease progression, the symptoms of seizures are the most common. Spontaneous subdural hematoma, hypertonic muscle tension occurred, decreased spontaneous activity. Respiratory infections are common and often induced