Webb Michelle L, Rosen Heather, Taghinia Amir, McCarty Erika R, Cerrato Felecia, Upton Joseph, Labow Brian I
Department of Plastic and Oral Surgery, Children's Hospital Boston, Boston, MA, USA.
J Hand Surg Am. 2011 Jun;36(6):1052-7. doi: 10.1016/j.jhsa.2011.02.018. Epub 2011 Apr 22.
Fanconi anemia (FA) is a rare genetic disorder of DNA repair that with near uniformity leads to bone marrow failure and resulting morbidity and mortality. Approximately 50% of FA patients are born with anomalies of the thumb or thumb and radius, and it has been recommended that all patients born with thumb anomalies undergo testing. However, the risk of FA in this population is unknown. We determined the incidence of FA in children with congenital thumb anomalies referred for FA testing and characterized those who tested positive.
We queried our database for patients who presented with congenital thumb anomalies and who underwent diepoxybutane (DEB) testing for FA between 1999 and 2008 at Children's Hospital Boston and the Dana-Farber Cancer Institute.
During this time period, 543 congenital thumb anomaly patients (235 with thumb hypoplasia) presented to our institution. A total of 81 patients with thumb abnormalities underwent DEB testing. Six patients (7% of those tested; 1% of the total; 3% of thumb hypoplasia patients) had a positive DEB test consistent with the diagnosis of FA; all had other non-upper-extremity anomalies associated with FA. Of 6 FA patients, 5 had bilateral involvement; all had some degree of thumb hypoplasia (3 also had radial dysplasia). Mean age at testing was 2.6 years (SD 4.3). Most of the patients tested had multiple physical anomalies (n = 66). The anomaly distribution was: thumb hypoplasia and radial dysplasia (n = 29), thumb hypoplasia (n = 26), radial polydactyly (n = 12), radial polydactyly and radial dysplasia (n = 1), and proximally placed thumb and radial dysplasia (n = 1). Twelve patients had other thumb anomalies.
Although the incidence of FA in patients with thumb anomalies may be low, patients with thumb hypoplasia and other physical findings associated with FA, specifically café au lait spots and short stature, appear to have an increased risk of FA. Because hand surgeons see these patients early in life, they have the opportunity to refer these patients for FA testing to initiate early education, family genetic counseling, and treatment if warranted.
TYPE OF STUDY/LEVEL OF EVIDENCE: Prognostic IV.
范可尼贫血（FA）是一种罕见的DNA修复基因疾病，几乎都会导致骨髓衰竭以及随之而来的发病和死亡。约50%的FA患者出生时伴有拇指或拇指与桡骨异常，因此有人建议，所有出生时伴有拇指异常的患者都应接受检测。然而，这一人群中FA的风险尚不清楚。我们确定了因FA检测而转诊的先天性拇指异常儿童中FA的发病率，并对检测呈阳性的患者进行了特征描述。
我们查询了数据库中1999年至2008年间在波士顿儿童医院和达纳-法伯癌症研究所出现先天性拇指异常并接受二环氧丁烷（DEB）FA检测的患者。
在此期间，共有543例先天性拇指异常患者（235例拇指发育不全）到我们机构就诊。共有81例拇指异常患者接受了DEB检测。6例患者（占检测患者的7%；占总数的1%；占拇指发育不全患者的3%）DEB检测呈阳性，符合FA诊断；所有患者都有与FA相关的其他非上肢异常。6例FA患者中，5例双侧受累；所有患者都有一定程度的拇指发育不全（3例还伴有桡骨发育异常）。检测时的平均年龄为2.6岁（标准差4.3）。大多数接受检测的患者有多种身体异常（n = 66）。异常分布情况为：拇指发育不全和桡骨发育异常（n = 29）、拇指发育不全（n = 26）、桡侧多指畸形（n = 12）、桡侧多指畸形和桡骨发育异常（n = 1）、拇指高位和桡骨发育异常（n = 1）。12例患者有其他拇指异常。
虽然拇指异常患者中FA的发病率可能较低，但拇指发育不全以及伴有与FA相关的其他身体表现（特别是牛奶咖啡斑和身材矮小）的患者，似乎患FA的风险较高。由于手外科医生在患者幼年时就能见到他们，因此有机会将这些患者转诊进行FA检测，以便在必要时开展早期教育、家庭遗传咨询和治疗。
研究类型/证据水平：预后性IV级。
