George C D, Patton M A, el Sawi M, Sharland M, Adam E J
Department of Diagnostic Radiology, St. George's Hospital, London, UK.
Pediatr Radiol. 1993;23(4):316-8. doi: 10.1007/BF02010926.
Noonan syndrome affects approximately 1 in 1500 live births. Affected individuals may have characteristic phenotypic features some of which are shared with Turner syndrome, although in Noonan syndrome the karyotype is normal, unlike the 45X karyotype of Turner syndrome. Renal anomalies have been described in both syndromes and in Turner syndrome they are both common and frequently severe. The frequency and spectrum of renal anomalies in Noonan syndrome have not been well documented. Upper abdominal ultrasound was performed to establish the frequency of renal anomalies in Noonan syndrome. Forty-four individuals with Noonan syndrome, aged between 9 months and 38 years, were studied. Sixteen scans (36%) were normal and 28 (64%) were abnormal. Five patients (11%) had renal anomalies. Twenty-three patients (53%) had splenomegaly, 6 of these with associated hepatomegaly. One patient had a choledochal cyst and a midgut malrotation. The frequency of renal anomalies in Noonan syndrome is 11%, which is lower than that seen in Turner syndrome. However, splenomegaly with or without hepatomegaly occurs commonly. Choledochal cyst and solitary kidney, previously unreported in Noonan syndrome, are documented.
努南综合征在活产婴儿中的发病率约为1/1500。受累个体可能具有特征性的表型特征，其中一些与特纳综合征相同，不过在努南综合征中，其核型是正常的，这与特纳综合征的45,X核型不同。两种综合征均有肾脏异常的报道，在特纳综合征中，肾脏异常既常见又往往较为严重。努南综合征中肾脏异常的发生率和范围尚未得到充分记录。进行上腹部超声检查以确定努南综合征中肾脏异常的发生率。研究了44例年龄在9个月至38岁之间的努南综合征患者。16次扫描（36%）结果正常，28次（64%）异常。5例患者（11%）有肾脏异常。23例患者（53%）有脾肿大，其中6例伴有肝肿大。1例患者有胆总管囊肿和中肠旋转不良。努南综合征中肾脏异常的发生率为11%，低于特纳综合征。然而，有或没有肝肿大的脾肿大较为常见。本文记录了努南综合征中此前未报道过的胆总管囊肿和孤立肾。
