Stern R C, Boat T F, Doershuk C F
Lancet. 1982 Jun 19;1(8286):1401-4. doi: 10.1016/s0140-6736(82)92512-0.
In some male patients with findings characteristic of cystic fibrosis, but normal sweat chloride concentrations, the demonstration of obstruction azoospermia has been pivotal in diagnosis. It is proposed that cystic fibrosis be diagnosed if the patient has at least two of three major criteria (marked rise in sweat chloride concentration, chronic obstructive pulmonary disease and pseudomonas infection, and unexplained obstructive azoospermia) or has one major criterion together with one of several minor criteria--including positive family history and childhood onset of exocrine pancreatic insufficiency. Inclusion of unusual variants within the cystic fibrosis syndrome has major theoretical implications for pathogenesis and practical importance for genetic counselling and patient care.
在一些具有囊性纤维化特征性表现但汗液氯化物浓度正常的男性患者中，梗阻性无精子症的证实对诊断至关重要。有人提出，如果患者具备三项主要标准中的至少两项（汗液氯化物浓度显著升高、慢性阻塞性肺疾病和铜绿假单胞菌感染、不明原因的梗阻性无精子症），或者具备一项主要标准以及若干次要标准中的一项（包括阳性家族史和儿童期外分泌性胰腺功能不全），则可诊断为囊性纤维化。将囊性纤维化综合征中的不寻常变异纳入其中，对发病机制具有重要的理论意义，对遗传咨询和患者护理具有实际重要性。
