Durieu I, Omar F B, Rollet J, Durand D V, Morel Y, Gilly R, Levrat R
Centre Hospitalier Lyon Sud, Pierre Bénite.
Rev Med Interne. 1993;14(10):981. doi: 10.1016/s0248-8663(05)80099-2.
We investigated clinical data, sweat electrolytes and cystic fibrosis (CF) mutations in twelve patients with congenital bilateral aplasia of vasa deferentia (CBAVD) to debate arguments for diagnosing CF. Sweat chloride concentration was definitely raised in four patients. Three patients are CF compound heterozygotes. Six patients are CF heterozygotes. This result reinforces the hypothesis that white males with CBAVD might have a mild form of CE.
我们调查了12例先天性双侧输精管缺如（CBAVD）患者的临床数据、汗液电解质和囊性纤维化（CF）突变情况，以探讨CF的诊断依据。4例患者的汗液氯化物浓度明显升高。3例患者为CF复合杂合子。6例患者为CF杂合子。这一结果强化了这样一种假说，即患有CBAVD的白人男性可能患有轻度CF。
