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新生儿组氨酸血症群体筛查计划:通过选择性薄层色谱法提高效率(作者译)

[Newborn mass-screening programme for histidinaemia: increased efficiency through selective thin-layer chromatography (author's transl)].

作者信息

Schön R

出版信息

Wien Klin Wochenschr. 1977 May 13;89(10):353-5.

PMID:868031
Abstract

Histidinaemia, detected on urinary screening in cases which had not been discovered by neonatal blood screening induced us to lower the control limit for histidine from 6 to 4 mg/dl. This was possible by the development of a thin-layer chromatographic control method for the Guthrie test. The combination of thin-layer chromatography (TLC) and the Guthrie test (GT) proved to be considerably more efficient than the Guthrie test alone: among 44,510 newborn infants tested in the first six months of 1975 twice as many cases of histidinaemia were found (TLC + GT 6, GT 3) in spite of a gready lowered control rate (TLC + GT 0.4%, GT 2.4%). Of 87,729 newborn infants tested in 1975, 9 cases of histidinaemia were detected (incidence: 1 in 9,748). Only 4 of these infants showed initial blood levels of larger than or equal to 6 mg/dl. 5 children with histidinaemia, 3 with an initial level of 4 mg/dl and one each with 5 and 8 mg/dl, respectively, had to be put on a histidine-restricted diet becuase the blood histidine level was constantly elevated above 8 mg/dl. The further course of histidinaemia does not appear to correlated with the height of the initial blood histidine level.

摘要

通过尿液筛查发现的组氨酸血症病例,而这些病例在新生儿血液筛查中未被发现,这促使我们将组氨酸的控制上限从6毫克/分升降至4毫克/分升。这是通过开发一种用于格思里试验的薄层色谱控制方法实现的。薄层色谱法(TLC)和格思里试验(GT)相结合被证明比单独使用格思里试验效率高得多:在1975年上半年接受检测的44510名新生儿中,尽管控制率大幅降低(TLC + GT为0.4%,GT为2.4%),但发现的组氨酸血症病例数量却是原来的两倍(TLC + GT为6例,GT为3例)。在1975年接受检测的87729名新生儿中,检测出9例组氨酸血症(发病率:1/9748)。这些婴儿中只有4名最初的血液水平大于或等于6毫克/分升。5名患有组氨酸血症的儿童,3名最初水平为4毫克/分升,另外两名分别为5毫克/分升和8毫克/分升,由于血液组氨酸水平持续高于8毫克/分升,不得不接受组氨酸限制饮食。组氨酸血症的进一步发展似乎与最初血液组氨酸水平的高低无关。

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