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[尿素循环前两个阶段先天性代谢缺陷的新生儿肺出血]

[Pulmonary hemorrhages in newborn infants with inborn errors of the 1st 2 phases of the urea cycle].

作者信息

Plöchl E, Bachmann C

出版信息

Monatsschr Kinderheilkd. 1983 Oct;131(10):714-5.

PMID:6646142
Abstract

Two critically ill, male newborns developed pulmonary bleeding and died after four respectively three days. In both infants an inborn error in the urea cycle (carbamylphosphatsynthetase-deficiency and ornithintranscarbamylase-deficiency respectively) was demonstrable. It is suggested that hyperammonemia could be the reason for pulmonary bleeding. Plasma ammonia levels should be determined in newborns with pulmonary bleeding, especially in those with normal weight and good health at birth.

摘要

两名危重新生儿男孩分别在四天和三天后出现肺出血并死亡。在这两名婴儿中,均证实存在尿素循环的先天性缺陷(分别为氨甲酰磷酸合成酶缺乏和鸟氨酸转氨甲酰酶缺乏)。提示高氨血症可能是肺出血的原因。对于有肺出血的新生儿,尤其是出生时体重正常且健康状况良好的新生儿,应测定血浆氨水平。

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