Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes.
Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes.
复制标题
范可尼贫血和其他遗传性骨髓衰竭综合征的耳科表现。
DOI：
10.1002/pbc.26155
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发表时间：
2016
影响因子：
3.2
通讯作者：
Alter,BlancheP
中科院分区：
文献类型：
--
作者：
Kalejaiye,Adedoyin;Giri,Neelam;Brewer,CarmenC;Zalewski,ChristopherK;King,KellyA;Adams,CharleenD;Rosenberg,PhilipS;Kim,HJeffrey;Alter,BlancheP
背景遗传性骨髓衰竭综合征（IBMFSs）是一种具有特殊症状特征的疾病，其耳科和听力学表现尚不清楚。我们的目标是描述范科尼贫血（FA）、先天性角化不良（DC）、戴蒙德-布莱克凡贫血（DBA）和舒瓦赫曼-戴蒙德综合征（SDS）患者的特征，并确定体格检查结果与听力损失之间的关联。方法患有IBMFS的患者接受了全面的临床和实验室评估以及综合征特异性基因突变检测。通过纯音测听测量听力损失，通过耳显微镜测量耳科异常。结果患者包括33例FA、37例DC、32例DBA和9例SDS。听力损失在FA（45%）和DBA（14%）患者中最常见。FA中最常见的听力损失类型是传导性（65%）。在所有病例中，21%的FA患者的桡骨缺失或发育不良与听力损失相关。66%的FA患者的耳显微镜检查异常。特征性耳畸形包括小鼓膜（66%）、锤骨畸形（57%）、畸形鼓室骨岛（48%）、外耳道狭窄（32%）和鼓索走行异常（34%）。耳畸形几乎总是与听力损失有关。听力损失是罕见的DC和SDS.ConclusionsFA患者是主要的IBMFS相关的听力损失，这是最常见的传导。放射状发育不全或发育不全和特征性先天性耳畸形与FA患者的听力损失相关。识别这些综合征特异性异常应导致早期治疗听力损失。
BackgroundThe inherited bone marrow failure syndromes (IBMFSs) are diverse disorders with syndrome‐specific features; their otologic and audiologic manifestations have not been well described. Our objective was to characterize these in patients with Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond–Blackfan anemia (DBA), and Shwachman–Diamond syndrome (SDS), and to determine the association between physical findings and hearing loss.MethodsPatients with an IBMFS underwent comprehensive clinical and laboratory evaluations and testing for syndrome‐specific gene mutations. Hearing loss was measured by pure tone audiometry and otologic abnormalities by otomicroscopy.ResultsPatients included 33 with FA, 37 with DC, 32 with DBA, and nine with SDS. Hearing loss was most frequent in patients with FA (45%) and DBA (14%). The most common type of hearing loss in FA was conductive (65%). Absent or hypoplastic radius, noted in 21% of the patients with FA, was associated with hearing loss in all cases. Otomicroscopy was abnormal in 66% of patients with FA. Characteristic ear abnormalities included small tympanic membrane (66%), malformed malleus (57%), aberrant tympanic bony island (48%), narrow external auditory canal (EAC) (32%), and abnormal course of chorda tympani (34%). Ear malformations were almost always associated with hearing loss. Hearing loss was rare in patients with DC and SDS.ConclusionsFA is the major IBMFS with associated hearing loss, which is most commonly conductive. Radial hypoplasia or aplasia and characteristic congenital ear malformations are associated with hearing loss in patients with FA. Recognition of these syndrome‐specific abnormalities should lead to earlier management of hearing loss.