菱形-黑范氏贫血症患者的相关先天畸形和身体表型可能会被忽视。

IF 1.3 Q3 PEDIATRICS Turkish archives of pediatrics Pub Date : 2024-06-17 DOI:10.5152/TurkArchPediatr.2024.23193
Gulare Soltanova, Niham Avcu Oral, Fatma Gümrük, Pelin Özlem Şimşek Kiper, Şule Ünal
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引用次数: 0

摘要

菱形-贝克范贫血症(DBA)是一种罕见的遗传性红细胞再生障碍,以严重的巨幼红细胞性贫血、先天畸形和易患癌症为特征。本研究的目的是以横断面方式确定 DBA 患者的先天性异常和畸形特征。研究对象包括1983年至2017年间确诊为DBA的患者。由经验丰富的畸形学家对患者进行畸形检查,同时进行超声心动图和腹部超声波检查,以确定心脏和泌尿生殖系统的异常。本研究共对 45 名患者进行了检查。畸形检查、超声心动图和腹部超声波检查显示,先天性畸形率高达 88.7%。在先天性畸形中,最常见的是颅面畸形,其次是骨骼畸形。在我们的系列患者中,畸形率高于之前的报道,这很可能是因为在我们的队列中,由畸形学家进行评估,而不仅仅依赖于患者记录或血液学专家的体格检查。
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Associated Congenital Abnormalities and Physical Phenotype in Patients with Diamond-Blackfan Anemia May Be Overlooked.

Diamond-Blackfan anemia (DBA) is a rare and inherited form of erythroid aplasia, characterized by severe macrocytic anemia, congenital malformations, and predisposition to cancer. The purpose of this study is to determine the congenital abnormalities and dysmorphological features of DBA patients in a cross-sectional manner. The study group included patients who had diagnosis of DBA between 1983 and 2017. Dysmorphological examinations of the patients were performed by an experienced dysmorphologist and also echocardiography and abdominal ultrasonography were performed in order to figure out cardiac and urogenital abnormalities. A total of 45 patients were examined in this study. Dysmorphological examination, echocardiography, and abdominal ultrasonography revealed the rate of congenital abnormalities as high as 88.7%. In consideration of the congenital abnormalities, the most common findings were craniofacial, followed by skeletal abnormalities. The rate of anomalies was found higher in our series of patients than that have been previously reported, most probably due to the evaluations being performed by a dysmorphologist in our cohort and not only depending on patient records or hematologists' physical examination.

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