根达综合症 Gunther disease
根达综合症 是卟啉症的一种。它十分罕有,为先天的综合症。原因是酵素或尿卟啉原Ⅲ共合成酶不足,目前可利用脐带血等干细胞的技术予以治疗。
单词 | Congenital erythropoietic porphyria |
释义 |
Congenital erythropoietic porphyria
中文百科
根达综合症 Gunther disease(重定向自Congenital erythropoietic porphyria)
根达综合症 是卟啉症的一种。它十分罕有,为先天的综合症。原因是酵素或尿卟啉原Ⅲ共合成酶不足,目前可利用脐带血等干细胞的技术予以治疗。
英语百科
Gunther disease 根达综合症(重定向自Congenital erythropoietic porphyria)
![]() ![]() Gunther disease, also known as congenital erythropoietic porphyria (CEP), uroporphyrinogen III synthase deficiency and UROS deficiency, is a congenital form of erythropoietic porphyria. The word porphyria originated from the Greek word porphura. Porphura actually means “purple pigment”, which, in suggestion, the color that the body fluid changes when a person has Gunther’s disease. It is a rare, autosomal recessive metabolic disorder affecting heme, caused by deficiency of the enzyme uroporphyrinogen cosynthetase. It is extremely rare, with a prevalence estimated at 1 in 1,000,000 or less. There have been times that prior to birth of a fetus, Gunther's disease has been shown to lead to anemia. In milder cases patients have not presented any symptoms until they have reached adulthood. In Gunther's disease, porphyrins are accumulated in the teeth and bones and an increased amount are seen in the plasma, bone marrow, feces, red blood cells, and urine. |
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