UNASSIGNED:通用新生儿筛查改变了医疗提供者对囊性纤维化(CF)表现的看法。在实施普遍筛查之前,患有CF的儿童通常表现为无法茁壮成长,营养缺乏,和反复感染。现在,几乎所有CF病例都是在出生后不久在出现明显症状之前通过新生儿筛查诊断的。因此,提供者通常不会在正常的新生儿筛查中考虑这种疾病。新生儿筛查显着降低了儿童早期并发症的风险,然而,如果新生儿筛查阴性的患者出现与CF一致的症状,则应进行明确的检测。包括严重的失败,代谢性碱中毒由于显著的盐损失,或反复呼吸道感染。
未经评估:我们介绍了一例6个月大的婴儿男性kwashiorkor,严重水肿,多种维生素缺乏,继发于凝血病的呕血,和弥漫性红斑皮疹,均继发于严重的胰腺功能不全。他的第一次新生儿筛查的免疫反应性胰蛋白酶原(IRT)值低于状态截止值,所以没有进行额外的测试,他的成长轨迹似乎令人放心。他最终通过基因测试和证实的汗液氯化物测试被诊断为CF,在他的父母是已知的CF携带者的情况下,他的严重表现与CF临床一致。绝对,补充白蛋白管理,呋塞米,钾,开始使用维生素K来纠正低蛋白血症,水肿,和凝血病。稍后,我们补充了胰酶和额外的维生素和矿物质,以治疗胰腺功能不全导致的持续缺乏.经过适当的治疗,他的维生素缺乏和水肿解决了,他的成长有所改善。
未经评估:由于普遍的新生儿筛查,CF的症状表现很少,在资源丰富的社区中,kwashiorkor的表现极为罕见。由于正常的新生儿筛查和错误的令人放心的生长,我们的患者延迟了CF的诊断,诊断后被确定为继发于严重水肿性营养不良。这个案例强调了新生儿筛查是一个有用但不完善的工具。临床医生应该在正确的临床背景下继续怀疑CF,即使在设置正常新生儿的屏幕结果。
UNASSIGNED: Universal newborn screening changed the way medical providers think about the presentation of cystic fibrosis (CF). Before implementation of universal screening, it was common for children with CF to present with failure to thrive, nutritional deficiencies, and recurrent infections. Now, nearly all cases of CF are diagnosed by newborn screening shortly after birth before significant symptoms develop. Therefore, providers often do not consider this illness in the setting of a normal newborn screen. Newborn screening significantly decreases the risk of complications in early childhood, yet definitive testing should be pursued if a patient with negative newborn screening presents with symptoms consistent with CF, including severe failure to thrive, metabolic alkalosis due to significant salt losses, or recurrent respiratory infections.
UNASSIGNED: We present a
case of a 6-month-old infant male with kwashiorkor, severe edema, multiple vitamin deficiencies, hematemesis secondary to coagulopathy, and diffuse erythematous rash, all secondary to severe pancreatic insufficiency. His first newborn screen had an immunoreactive trypsinogen (IRT) value below the state cut-off value, so additional testing was not performed, and his growth trajectory appeared reassuring. He was ultimately diagnosed with CF by genetic testing and confirmatory sweat chloride testing, in the setting of his parents being known CF carriers and his severe presentation being clinically consistent with CF. Acutely, management with supplemental albumin, furosemide, potassium, and vitamin K was initiated to correct the presenting hypoalbuminemia, edema, and coagulopathy. Later, pancreatic enzyme supplementation and additional vitamins and minerals were added to manage ongoing deficiencies from pancreatic insufficiency. With appropriate treatment, his vitamin deficiencies and edema resolved, and his growth improved.
UNASSIGNED: Due to universal newborn screening, symptomatic presentation of CF is rare and presentation with kwashiorkor is extremely rare in resource-rich communities. The diagnosis of CF was delayed in our patient because of a normal newborn screen and falsely reassuring growth, which after diagnosis was determined to be secondary to severe edematous malnutrition. This
case highlights that newborn screening is a useful but imperfect tool. Clinicians should continue to have suspicion for CF in the right clinical context, even in the setting of normal newborn screen results.