de la Taille A, Rigot J M, Mahe P, Vankemmel O, Gervais R, Dumur V, Lemaitre L, Mazeman E
Department of Urology, CHRU Lille, France.
Br J Urol. 1998 Apr;81(4):614-9. doi: 10.1046/j.1464-410x.1998.00589.x.
To evaluate the incidence of renal and seminal vesicle (SV) abnormalities, and the presence or absence of CFTR gene mutations, in a cohort of patients referred for congenital bilateral absence of the vas deferens (CBAVD).
Forty-one patients with CBAVD, confirmed by surgical exploration, were evaluated by ultrasonography for renal and SV anomalies. Semen variables (pH, fructose level and ejaculate volume), sweat chloride levels and mutations of the 3, 4, 7, 9, 10, 11, 13, 14b, 17b, 19, 20 and 21 exons of the CFTR gene were determined.
In eight patients with renal anomalies there were no detectable mutations of CFTR, compared with 23 in the 33 patients with no renal anomalies (P < 0.02). SV anomalies were not related to the presence or absence of mutations (11 of 23 vs 11 of 18), or in compound heterozygote patients carrying two mutations (eight of 13 vs three of 10). Semen variables (pH < 7.2, fructose < 1 g/L and ejaculate volume < 2 mL) did not differentiate patients with or without anomalies of the kidney, SV or with mutations, except in patients with a pH < 7.2 for which renal anomalies were less frequent (two of 25 vs six of 16, P < 0.05) and mutations more frequent (19 of 25 vs five of 12, P < 0.01).
Renal anomalies associated with CBAVD should be considered as supporting maldevelopment as a cause, but analysis of CFTR mutations in these cases should not be omitted. Unlike anomalies of the SV, a low ejaculate volume or low fructose level, a semen pH of < 7.2 is the only nonspecific variable in patients with CFTR mutations.
评估因先天性双侧输精管缺如（CBAVD）而转诊的一组患者中肾脏和精囊（SV）异常的发生率以及CFTR基因突变的情况。
41例经手术探查确诊为CBAVD的患者接受了超声检查以评估肾脏和SV异常情况。测定精液变量（pH值、果糖水平和射精量）、汗液氯化物水平以及CFTR基因第3、4、7、9、10、11、13、14b、17b、19、20和21外显子的突变情况。
8例有肾脏异常的患者未检测到CFTR突变，而33例无肾脏异常的患者中有23例检测到突变（P<0.02）。SV异常与突变的有无无关（23例中有11例，18例中有11例），在携带两个突变的复合杂合子患者中也无关（13例中有8例，10例中有3例）。精液变量（pH<7.2、果糖<1g/L和射精量<2mL）并不能区分有无肾脏、SV异常或有无突变的患者，不过pH<7.2的患者除外，这类患者中肾脏异常较少见（25例中有2例，16例中有6例，P<0.05），而突变较多见（25例中有19例，12例中有5例，P<0.01）。
与CBAVD相关的肾脏异常应被视为支持发育异常是其病因，但这些病例中CFTR突变的分析不应被遗漏。与SV异常不同，射精量低或果糖水平低时，精液pH<7.2是CFTR突变患者唯一的非特异性变量。
