VACTERL/VATER Association.
VACTERL/VATER Association.
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DOI：
10.1186/1750-1172-6-56
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发表时间：
2011-08-16
影响因子：
3.7
通讯作者：
Solomon BD
中科院分区：
文献类型：
--
作者：
Solomon BD
VATER/VATER相关性通常定义为至少存在以下三种先天性畸形：椎体缺损、肛门闭锁、心脏缺损、气管食管瘘、肾脏异常和肢体异常。除了这些核心部件特征外，患者还可能患有其他先天性异常。虽然诊断标准各不相同，但估计发病率约为1/10 000至1/40 000活产婴儿。临床上通过上述畸形的存在来确定病情;重要的是，不应该有临床或实验室证据来证明存在许多类似病症之一，因为鉴别诊断相对较大。这种鉴别诊断包括（但不限于）Baller-Gerold综合征、CHARGE综合征、Currarino综合征、22q11.2缺失综合征、范可尼贫血、Feingold综合征、Fryns综合征、MURCS相关性、眼耳椎综合征、Opitz G/BBB综合征、Pallister-Hall综合征、Townes-Brocks综合征和VILLA伴脑积水。虽然有关于因果关系的提示，但迄今为止仅在一小部分患者中确定了病因，可能是由于高度的临床和因果异质性，疾病的大部分散发性质以及许多类似条件的存在等因素。新的遗传学研究方法提供了在相对不久的将来更好地定义VEGIL关联的原因的希望。产前诊断可能具有挑战性，因为某些组成特征可能难以在出生前确定。VALDL/VATER相关患者的管理通常集中在出生后立即手术矫正特定的先天性异常（通常是肛门闭锁、某些类型的心脏畸形和/或气管食管瘘），然后是先天性畸形后遗症的长期医疗管理。如果可以实现最佳的手术矫正，预后可能相对积极，尽管有些患者一生中会继续受到先天性畸形的影响。重要的是，VEGIL相关的患者不倾向于有神经认知障碍。
VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. In addition to these core component features, patients may also have other congenital anomalies. Although diagnostic criteria vary, the incidence is estimated at approximately 1 in 10,000 to 1 in 40,000 live-born infants. The condition is ascertained clinically by the presence of the above-mentioned malformations; importantly, there should be no clinical or laboratory-based evidence for the presence of one of the many similar conditions, as the differential diagnosis is relatively large. This differential diagnosis includes (but is not limited to) Baller-Gerold syndrome, CHARGE syndrome, Currarino syndrome, deletion 22q11.2 syndrome, Fanconi anemia, Feingold syndrome, Fryns syndrome, MURCS association, oculo-auriculo-vertebral syndrome, Opitz G/BBB syndrome, Pallister-Hall syndrome, Townes-Brocks syndrome, and VACTERL with hydrocephalus. Though there are hints regarding causation, the aetiology has been identified only in a small fraction of patients to date, likely due to factors such as a high degree of clinical and causal heterogeneity, the largely sporadic nature of the disorder, and the presence of many similar conditions. New genetic research methods offer promise that the causes of VACTERL association will be better defined in the relatively near future. Antenatal diagnosis can be challenging, as certain component features can be difficult to ascertain prior to birth. The management of patients with VACTERL/VATER association typically centers around surgical correction of the specific congenital anomalies (typically anal atresia, certain types of cardiac malformations, and/or tracheo-esophageal fistula) in the immediate postnatal period, followed by long-term medical management of sequelae of the congenital malformations. If optimal surgical correction is achievable, the prognosis can be relatively positive, though some patients will continue to be affected by their congenital malformations throughout life. Importantly, patients with VACTERL association do not tend to have neurocognitive impairment.
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影响因子：
2
作者：
Faivre, L;Portnoï, MF;Baumann, C
通讯作者：
Baumann, C
影响因子：
2
作者：
Garcia-Barcelo, Maria-Mercè;Wong, Kenneth Kak-yuen;Tam, Paul Kwong-hang
通讯作者：
Tam, Paul Kwong-hang
影响因子：
1.9
作者：
Agochukwu NB;Pineda-Alvarez DE;Keaton AA;Warren-Mora N;Raam MS;Kamat A;Chandrasekharappa SC;Solomon BD
通讯作者：
Solomon BD
影响因子：
2
作者：
De Falco, F;Cainarca, S;Meroni, G
通讯作者：
Meroni, G
DOI：
10.1007/s00467-008-1101-x
发表时间：
2009-05
期刊：
Pediatric nephrology (Berlin, Germany)
影响因子：
--
作者：
Ahn SY;Mendoza S;Kaplan G;Reznik V
通讯作者：
Reznik V