Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations
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DOI：
10.1136/jmg.2008.058743
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发表时间：
2008-10-01
影响因子：
4
通讯作者：
DiGiovanna, J. J.
中科院分区：
文献类型：
--
作者：
Faghri, S.;Tamura, D.;DiGiovanna, J. J.
毛硫营养不良症（TTD）是一种罕见的常染色体隐性遗传病，其特征是发脆、缺硫和多系统异常。系统文献综述确定了112例患者，年龄从12周至47岁（中位6岁）。除了头发异常外，常见的特征还有发育迟缓/智力障碍（86%）、身材矮小（73%）、鱼鳞病（65%）、出生时的异常特征（55%）、眼部异常（51%）、感染（46%）、光敏性（42%）、孕产妇妊娠并发症（28%）和DNA修复缺陷（37%）。死亡率很高，有19名10岁以下儿童死亡（13名与感染有关），比美国人口高20倍。临床特征范围从轻度疾病仅涉及头发到严重疾病伴严重发育缺陷，复发性感染和年轻时高死亡率不等。出生时的异常特征和妊娠并发症，未被认识但TTD的共同特征，表明DNA修复基因在正常胎儿发育中的作用。
Trichothiodystrophy (TTD) is a rare, autosomal recessive disease, characterised by brittle, sulfur deficient hair and multisystem abnormalities. A systematic literature review identified 112 patients ranging from 12 weeks to 47 years of age (median 6 years). In addition to hair abnormalities, common features reported were developmental delay/intellectual impairment (86%), short stature (73%), ichthyosis (65%), abnormal characteristics at birth (55%), ocular abnormalities (51%), infections (46%), photosensitivity (42%), maternal pregnancy complications (28%) and defective DNA repair (37%). There was high mortality, with 19 deaths under the age of 10 years (13 infection related), which is 20-fold higher compared to the US population. The spectrum of clinical features varied from mild disease with only hair involvement to severe disease with profound developmental defects, recurrent infections and a high mortality at a young age. Abnormal characteristics at birth and pregnancy complications, unrecognised but common features of TTD, suggest a role for DNA repair genes in normal fetal development.