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一名儿童所患的一种复杂且罕见的泌尿生殖系统畸形的形态学特征。

Morphological aspects in a urogenital malformation, complex and rare, in a child.

作者信息

Leordean Viorica, Lazăr D, Trofenciuc M

机构信息

IInd Clinic of Pediatrics, Emergency County Hospital, Arad, Romania.

出版信息

Rom J Morphol Embryol. 2012;53(2):421-5.

Abstract

The aim of this study follows the detailed evolution of a child diagnosed with prune-belly syndrome. This syndrome is a complex dysplasia, a rare pathology in children, characterized by the triad--the classic--hypo- or aplasia of righteous abdominal, cryptorchidism, abnormality of the urinary tract; also, it can be associated with pulmonary, cardiac, digestive, osteoarticular, and other malformations. Diagnostic criteria and etiopathogeny aspects are presented showing embryopathy and X-linked hereditary transmission theories as the most plausible, as proofed by recent genetic studies. Analyzing therapeutic aspects, it is stressed that medical treatment precedes or follows surgery, which cannot resolve urinary infection unless dysplastic urinary reconstruction is performed. Serious forms of prune-belly syndrome have a development and poor prognosis. Intrauterine and neonatal mortality is 20% and 50% in the first two years of life. The risk of urinary infection and/or lungs burdens the patient's clinical condition, allowing further appreciation on evolution of the disease. For cases solvable by plastic surgical reconstruction, as those who respond to medical therapy, differentiation will be monitored in territory and check-ups by the specialized consulting room from Polyclinic Health Center. Urinary infection relapse danger is permanent, requiring differentiated supervision. These case interest practitioners, by at least two aspects: the rarity of the disease, and complexity of dysplasia constituent, which has serious implications on the body economy.

摘要

本研究旨在追踪一名诊断为梅干腹综合征患儿的详细病情发展。该综合征是一种复杂的发育异常,是儿童罕见的病症,其特征为三联征——典型的腹壁发育不全或缺失、隐睾症、泌尿系统异常;此外,它还可能与肺部、心脏、消化、骨关节及其他畸形相关。文中介绍了诊断标准和病因学方面的内容,表明胚胎病和X连锁遗传传播理论是最合理的,最近的基因研究已证实了这一点。在分析治疗方面时强调,药物治疗先于手术或在手术后进行,除非进行发育异常的尿路重建,否则手术无法解决尿路感染问题。严重形式的梅干腹综合征病情发展且预后不良。宫内和新生儿死亡率在出生后的头两年分别为20%和50%。尿路感染和/或肺部感染的风险加重了患者的临床病情,这有助于进一步了解疾病的发展。对于可通过整形外科重建解决的病例,如那些对药物治疗有反应的病例,将由综合健康中心的专科诊室在该领域进行监测和检查。尿路感染复发的危险是永久性的,需要进行区别监管。这些病例引起了从业者的兴趣,至少有两个方面:疾病的罕见性以及发育异常构成的复杂性,这对身体机能有严重影响。

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