DiGeorge Syndrome: a not so rare disease.
DiGeorge Syndrome: a not so rare disease.
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DOI：
10.1590/s1807-59322010000900009
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发表时间：
2010
期刊：
影响因子：
--
通讯作者：
Abe-Jacob CM
中科院分区：
文献类型：
--
作者：
Fomin AB;Pastorino AC;Kim CA;Pereira CA;Carneiro-Sampaio M;Abe-Jacob CM
DiGeorge综合征于1968年首次被描述为胚胎期第三和第四咽囊发育异常引起的原发性免疫缺陷。其特征是由于甲状旁腺功能减退、心脏缺陷和胸腺发育不全或不发育而引起的低钙血症。其发病率为1：3000活产，尽管其发病率很高，但对其自然史和进展知之甚少。这可能是由于诊断困难和用于描述它的各种名称，如velocardiofacial，Shprintzen，DiGeorge和CATCH 22 Syndrome，以及圆锥动脉干面部异常。所有这些都代表了相同的遗传条件，染色体22q11.2缺失，这可能有几种临床表现。描述DiGeorge综合征患者的临床和实验室资料及表型特征。患者接受标准临床和流行病学方案和检测，以检测心脏病、面部异常、异形、神经或行为障碍、复发性感染和其他合并症。在14例患者（8个月至18岁11个月）中，只有1例未检测到22q11.2缺失。主要表现为圆锥动脉干畸形12例，面部畸形11例，低钙血症5例，淋巴细胞计数降低2例。 作者指出，在所有出现心脏缺陷、面部异常（与或不与低钙血症相关）和免疫系统疾病的患者中，有必要怀疑DGS，因为尽管DGS的频率很高，但很少有确诊的患者接受随访。
The DiGeorge Syndrome was first described in 1968 as a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life. It is characterized by hypocalcemia due to hypoparathyroidism, heart defects, and thymic hypoplasia or aplasia. Its incidence is 1:3000 live births and, despite its high frequency, little is known about its natural history and progression. ←This is probably due to diagnostic difficulties and the great variety of names used to describe it, such as velocardiofacial, Shprintzen, DiGeorge, and CATCH 22 Syndromes, as well as conotruncal facial anomaly. All represent the same genetic condition, chromosome 22q11.2 deletion, which might have several clinical expressions. To describe clinical and laboratorial data and phenotypic characteristics of patients with DiGeorge Syndrome. Patients underwent standard clinical and epidemiological protocol and tests to detect heart diseases, facial abnormalities, dimorphisms, neurological or behavioral disorders, recurrent infections and other comorbidities. Of 14 patients (8m – 18y11m), only one did not have 22q11.2 deletion detected. The main findings were: conotruncal malformation (n = 12), facial abnormalities (n = 11), hypocalcemia (n = 5) and low lymphocyte count (n = 2). The authors pointed out the necessity of DGS suspicion in all patient presenting with heart defects, facial abnormalities (associated or not with hypocalcemia), and immunological disorders because although frequency of DGS is high, few patients with a confirmed diagnosis are followed up.
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影响因子：
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