Episode Transcript
Interviewer: 在美国，每5000个儿童中就有一个患有肛门直肠畸形. 这是什么，它是如何治疗的，你可以期待今天的范围的结果.
播音员: Health information from experts supported by research. From University of Utah Health, this is thescoperadio.com.
Interviewer: We're here with Dr. 迈克尔D. 罗林斯, 犹他大学医学院和初级儿童医院儿科外科教授. 大发娱乐讨论的是先天性结直肠疾病，特别是肛肠畸形. 所以,博士. 罗林斯，这些情况有哪些，这对孩子意味着什么?
Dr. 罗林斯: 基本上, 肛门直肠畸形是指孩子出生时肛门开口不在肛门括约肌复合体中心的正常位置. 这可能是直肠底部或会阴的开口, which is anterior to the sphincter complex, 或者在一个男孩身上, the rectum could open into the urinary tract, such as the bladder or the urethra, or in a female, the opening could be into the back of 阴道. 女孩出生时最严重的缺陷可能是尿道排出膀胱, 阴道, 直肠都连接在一起并进入会阴作为一个单一的开口或公共通道. 孩子也可能出生时直肠末端不明显，会阴处没有明显开口.
Interviewer: Dr. 罗林斯，是什么导致了这些情况和畸形?
Dr. 罗林斯: That's a great question, and it's largely unknown. 有一些综合征，包括肛门直肠畸形和基因突变的这些特殊综合征已被确定, but by and large, the cause or the ideology is unknown. There seems to be some familial inheritance, familial contribution to this, 2%到4%的人在他们的血统中有一个受影响的家庭成员. The incidence in the United States is approximately 1 in 5,000 live births, so that's roughly 800 children a year born with that.
Interviewer: And when does a parent or, 你知道, a new mother first find out that this condition is developing, and how do you, 作为医生, 看到它?
Dr. 罗林斯: That's one of the unfortunate parts. 现在, we don't have reliable prenatal detection of this malformation, because most women receive their 20-week ultrasound, and if everything looks good at that point, they don't have follow-up imaging. And these malformations frequently occur later in gestation. So most of the time, 这些孩子的出生完全出乎这个家庭的意料, as you might imagine, is pretty overwhelming.
Interviewer: So if most of these are detected after birth, 父母会在他们的孩子身上看到什么样的症状会指向这些畸形之一?
Dr. 罗林斯: 幸运的是, 接生医生或儿科医生在对孩子进行初步检查时很容易发现因为没有肛门开口, which is one of the things that they routinely check for. As I mentioned earlier, this is a spectrum of malformations, 所以肛门开口可能仅仅位于括约肌复合体的中心之外. 所以家长或医生可能会注意到底部有一个开口, although it might look small, 可能看起来不像它应该在底部的中心位置. And so those can be a little more difficult to detect. 在这些病人中，这种特殊的畸形被称为会阴瘘管. 可能需要几周甚至几个月的时间才能确诊, ,通常, 父母或初级保健大发娱乐提供者会注意到孩子排便有困难.
Interviewer: 作为一名医生，作为一名外科医生，你是如何治疗这些不同类型的疾病的? What are some of the common ways that they're treated?
Dr. 罗林斯: The more severe malformations, I'll just address those first. So if the rectum is connecting, for instance, to the bladder in a boy or if the rectum is blind-ending, within the first one to two days of life, 大发娱乐做了一个结肠造口术，这样孩子就可以把粪便放进结肠造口袋里. Then allow 婴儿 to grow, 年龄的增长, 然后做更明确的成像来确定直肠瘘管的确切位置, whether it's connecting to the bladder or to the urethra, which drains the bladder somewhere along its course, or in a girl, to 阴道. And then we can make plans for a definitive repair which, depending on the malformation, 可能发生在3个月到1岁之间吗.
现在, the other course of treatment would be if the patient, 婴儿, does have a perineal fistula, 大发娱乐可能使用的一种治疗方法是扩大瘘管，使其扩大到足够大的地方，可以通过粪便，然后让父母在家里这样做，直到孩子有机会成长, and then do the repair in a single stage, which would be around three to six months of age. And those that are treated with colostomy first, they'll have their definitive repair, as I mentioned, generally between 3 months to 12 years of age. 一旦修复愈合，他们的结肠造口术就关闭了，所以他们最后要做三次手术.
Interviewer: And after all of this, these interventions, all these surgeries, all these treatments, what's the aftercare like? 父母需要在孩子身上记住多长时间和什么样的事情?
Dr. 罗林斯: 父母需要记住的是，这是一种终生的疾病，这是他们与护理团队建立的终身关系. Postoperative care is fairly intense, 事实上这些可能与食道的其他一些异常有关, 脊椎的一部分, of the spinal cord, of the kidneys, of the genital tract, 三分之二的儿童会有一种或多种相关的异常, and so the care requires a multidisciplinary approach. 你知道，这不是一次手术就能解决的问题.
Things that will affect sort of long-term function, 脊髓和骶骨或下脊柱的特征, 大发娱乐知道如果有脊髓畸形或严重异常的骶骨, 这些孩子没有发育出控制大便所需的肌肉和所需的神经. 所以他们更有可能失禁，需要在整个童年时期，甚至可能在他们的一生中，都进行严格的肠道管理.
Interviewer: 那么，在孩子被诊断出患有这种畸形后，你该对父母说些什么呢?
Dr. 罗林斯: 我认为大发娱乐在治疗这些孩子方面已经取得了巨大的进步通过多学科的方式来处理这个问题. Decade or so ago, often the renal anomalies were not recognized or addressed, and those children went on to experience renal insufficiency, renal failure, or even need a renal transplant. 现在, 你知道, by approaching this in a multidisciplinary way, we identify kidney abnormalities, for instance, 早期, manage them proactively, and avoid renal failure. That's just one area.
我想让父母们知道的另一件事是，他们的孩子可以过上完全积极的生活. 即使他们是患有大便失禁的孩子之一, 大发娱乐在初级儿童医院有一个结构化的肠道管理项目, 这个国家的其他地方也有类似的项目, 大发娱乐可以人为地让这些孩子保持干净，穿正常的内裤, with either a large volume enema program or, in some situations, a high-dose laxative program. But we're able to keep them clean and in a normal underwear, and they can spend the night with friends, they can play sports, they can go to camps like their friends.
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