范可尼贫血中的生长激素缺乏症。

Growth hormone deficiency in fanconis anemia.

作者信息

Roy Mahua, Bala A K, Roy Debjani, Pandit Narayan

机构信息

Pediatric Medicine, North Bengal Medical College & Hospital, Darjeeling, India ; 931, Jawpur Road, Kolkata, 700074 India.

Pediatric Medicine, North Bengal Medical College & Hospital, Darjeeling, India.

出版信息

Indian J Hematol Blood Transfus. 2013 Mar;29(1):35-8. doi: 10.1007/s12288-011-0119-6. Epub 2011 Oct 9.

DOI:10.1007/s12288-011-0119-6

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3572248/

Abstract

Two cases of Fanconis anemia (FA) are reported here. Case 1 presented with hypoplastic anemia and skeletal abnormality. Case 2, his older brother had stunted growth, investigations detected growth hormone deficiency and mild hematological derangement without other endocrine abnormality. FA was confirmed by positive chromosomal breakages studies in both cases.

摘要

本文报告了两例范可尼贫血（FA）病例。病例1表现为再生障碍性贫血和骨骼异常。病例2，即病例1的哥哥，生长发育迟缓，检查发现生长激素缺乏和轻度血液学紊乱，但无其他内分泌异常。两例病例经染色体断裂研究呈阳性而确诊为范可尼贫血。

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