转醛醇酶缺乏症患者的肺部表现。
Pulmonary manifestations in a patient with transaldolase deficiency.
作者信息
Jassim Nada, Alghaihab Mohammed, Saleh Suhail Al, Alfadhel Majid, Wamelink Mirjam M C, Eyaid Wafaa
机构信息
Department of Pediatrics MC 1510, King Abdulaziz Medical City, King Fahad National Guard Hospital, 22490, Riyadh, 11426, Saudi Arabia.
出版信息
JIMD Rep. 2014;12:47-50. doi: 10.1007/8904_2013_243. Epub 2013 Jul 12.
Abstract
Transaldolase deficiency is a newly recognized metabolic disorder. It is an autosomal recessive genetic disease (OMIM #606003). The effects of the defect in the TALDO gene are pleiotropic with a clinical presentation of growth retardation, dysmorphic features, cutis laxa, congenital heart disease, hepatosplenomegaly, pancytopenia, and bleeding tendencies. This is the first report of a child who was diagnosed at birth with transaldolase deficiency who subsequently developed hepatopulmonary syndrome.
摘要
转醛醇酶缺乏症是一种新发现的代谢紊乱疾病。它是一种常染色体隐性遗传病（在线人类孟德尔遗传数据库编号#606003）。TALDO基因缺陷的影响具有多效性，临床表现为生长发育迟缓、畸形特征、皮肤松弛、先天性心脏病、肝脾肿大、全血细胞减少和出血倾向。这是首例出生时被诊断为转醛醇酶缺乏症且随后发展为肝肺综合征患儿的报告。
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本文引用的文献
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2
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Trends Mol Med. 2011 Jul;17(7):395-403. doi: 10.1016/j.molmed.2011.01.014. Epub 2011 Mar 2.
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Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure.TALDO1基因的新型杂合突变导致转醛醇酶缺乏和早期婴儿肝功能衰竭。
J Pediatr Gastroenterol Nutr. 2011 Jan;52(1):113-6. doi: 10.1097/MPG.0b013e3181f50388.
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