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范科尼贫血伴身材矮小。对人生长激素无反应。

Fanconi's aplastic anaemia with short stature. Absence of response to human growth hormone.

作者信息

Gleadhill V, Bridges J M, Hadden D R

出版信息

Arch Dis Child. 1975 Apr;50(4):318-20. doi: 10.1136/adc.50.4.318.

DOI:10.1136/adc.50.4.318
PMID:1147671
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1544461/
Abstract

A patient with idiopathic marrow hypoplasia associated with short stature and other anomalies (Fanconi's anaemia) is described: treatment with human growth hormone for one year did not accelerate his growth rate or significantly affect his anaemia: androgen treatment considerably improved both features. Endocrine studies suggest that though he had poor and insufficient production of endogenous growth hormone to insulin-induced hypoglycaemia, the major defect in this syndrome is determined more at the end-organ than at the pituitary or gonadal level.

摘要

本文描述了一名患有特发性骨髓发育不全并伴有身材矮小及其他异常(范科尼贫血)的患者:使用人生长激素治疗一年,其生长速度未加快,贫血状况也未得到显著改善;雄激素治疗则使这两个症状均得到明显改善。内分泌研究表明,尽管该患者对胰岛素诱导的低血糖症产生内源性生长激素的能力较差且分泌不足,但此综合征的主要缺陷更多地取决于终末器官,而非垂体或性腺水平。

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Fanconi's aplastic anaemia with short stature. Absence of response to human growth hormone.范科尼贫血伴身材矮小。对人生长激素无反应。
Arch Dis Child. 1975 Apr;50(4):318-20. doi: 10.1136/adc.50.4.318.
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Fanconi's anemia with growth hormone deficiency.伴有生长激素缺乏的范科尼贫血
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引用本文的文献

1
Endocrine studies in Fanconi's anaemia. Report of 4 cases.范可尼贫血的内分泌研究。4例报告。
Arch Dis Child. 1978 Feb;53(2):126-31. doi: 10.1136/adc.53.2.126.

本文引用的文献

1
Fanconi's anemia. Inherited susceptibility to chromosome breakage in various tissues.范科尼贫血。多种组织中对染色体断裂的遗传性易感性。
Ann Intern Med. 1966 Sep;65(3):496-503. doi: 10.7326/0003-4819-65-3-496.
2
Clinical and chromosome studies in Fanconi's aplastic anaemia.范科尼贫血的临床与染色体研究
J Med Genet. 1969 Mar;6(1):28-33. doi: 10.1136/jmg.6.1.28.
3
Fanconi's anemia with isolated growth hormone deficiency.伴有孤立性生长激素缺乏症的范科尼贫血
J Pediatr. 1972 Jan;80(1):159-60. doi: 10.1016/s0022-3476(72)80485-2.
4
Endocrine studies in a case of congenital (erythroid) hypoplastic anaemia.先天性(红系)再生障碍性贫血一例的内分泌研究
Acta Haematol. 1972;47(2):109-17. doi: 10.1159/000208502.