营养性佝偻病的遗传学方面
Genetic aspects of nutritional rickets.
作者信息
Doxiadis S, Angelis C, Karatzas P, Vrettos C, Lapatsanis P
出版信息
Arch Dis Child. 1976 Feb;51(2):83-90. doi: 10.1136/adc.51.2.83.
Amino acid excretion was investigated in 21 rachitic infants and in 22 of their parents. There was (a) increased alpha-amino acid excretion in one-third of the infants a long time after the rickets had healed, (b) an abnormally high excretion of alpha-amino nitrogen and of phosphorus in many of the parents (c) an abnormal pattern of amino acid excretion in all 9 infants tested, and (d) a good correlation between the excretion of individual amino acids by an infant and by its parents. Our findings suggest that in at least some cases of nutritional rickets there is a genetic element which may manifest itself only under adverse environmental conditions.
对21名患佝偻病的婴儿及其22名父母的氨基酸排泄情况进行了研究。结果发现：(a)三分之一的婴儿在佝偻病治愈很长时间后，α-氨基酸排泄量增加；(b)许多父母的α-氨基氮和磷排泄异常高；(c)所有9名接受测试的婴儿氨基酸排泄模式异常；(d)婴儿及其父母个体氨基酸排泄之间存在良好的相关性。我们的研究结果表明，至少在某些营养性佝偻病病例中存在遗传因素，该因素可能仅在不利的环境条件下才会显现出来。
Zotero 插件