Papadopoulou D, Tsakiris D, Papadimitriou M
Department of Nephrology, Hippokration General Hospital, Thessaloniki, Greece.
Ren Fail. 1999 Jan;21(1):67-84. doi: 10.3109/08860229909066971.
To define possibly affected members of 69 families and to identify the factors influencing the progression of autosomal dominant polycystic kidney disease (ADPKD), 276 subjects at risk of having inherited the mutant gene underwent ultrasonographic scanning (US), using an ultrasound real-time scanner. At a mean age of 26 +/- 12 years (range 4-71), 85/276 individuals (31%) presented ultrasound evidence of the disease (at least two cysts in one kidney and one cyst in the other) (US: positive), while only 19/85 (22%) had one or more manifestations of ADPKD prior to diagnosis. The prevalence of the disease in subjects at risk aged < 30 years was 53/154 (34%), while hepatic cysts were also detected in 7/85 ADPKD probands (8%) (five females) at a mean age of 40 +/- 6 years (range 30-45) and their frequency correlated with the number of pregnancies. History was proved to be important in suspecting the disease since symptoms were more common in US positive as compared to negative subjects (22% vs 6%, p < 0.001). On the other hand, physical examination and routine laboratory data at presentation revealed abnormal signs mainly in US positive individuals aged 30-39 years. Forty ADPKD families met the criterion for genetic study (at least two members affected) but in three of them (7.5%), no linkage to DNA-markers for the short arm of chromosome 16 was detected ("unlinked" or ADPKD2). DNA-analysis in the rest 37 "linked" (ADPKD1) families identified the gene-carrier state in 18/123 (15%) US negative subjects at risk, at a mean age of 13 +/- 7 years (range 3-25). There were significantly more US positive subjects aged > or = 30 years in ADPKD2 as compared to ADPKD1 families (83% vs 35%, p < 0.05) suggesting that the progression of the disease is slower in the former families. During a 5-year follow-up, 6/18 gene-carriers (33%) had already developed distinct renal cysts on US, at a mean age of 20 +/- 9 years (range 8-29). On the contrary, none of the ADPKD1 non-carriers and the US negative ADPKD2 subjects had shown any ultrasound findings of cystic renal disease at that period.
为了确定69个家族中可能受影响的成员，并识别影响常染色体显性多囊肾病（ADPKD）进展的因素，使用超声实时扫描仪对276名有遗传突变基因风险的受试者进行了超声扫描（US）。平均年龄为26±12岁（范围4 - 71岁），276名个体中有85名（31%）呈现出该病的超声证据（一侧肾脏至少有两个囊肿，另一侧有一个囊肿）（US：阳性），而在诊断前只有19/85（22%）有一项或多项ADPKD表现。年龄小于30岁的有风险受试者中该病的患病率为53/154（34%），同时在85名ADPKD先证者中有7名（8%）（5名女性）也检测到肝囊肿，平均年龄为40±6岁（范围30 - 45岁），其出现频率与妊娠次数相关。事实证明，病史对于怀疑该病很重要，因为与US阴性受试者相比，症状在US阳性受试者中更常见（22%对6%，p < 0.001）。另一方面，就诊时的体格检查和常规实验室数据显示，异常体征主要出现在30 - 39岁的US阳性个体中。40个ADPKD家族符合基因研究标准（至少两名成员受影响），但其中3个家族（7.5%）未检测到与16号染色体短臂DNA标记的连锁关系（“未连锁”或ADPKD2）。其余37个“连锁”（ADPKD1）家族的DNA分析在123名平均年龄为13±7岁（范围3 - 25岁）的US阴性有风险受试者中确定了18名（15%）的基因携带者状态。与ADPKD1家族相比，ADPKD2家族中年龄大于或等于30岁的US阳性受试者明显更多（83%对35%，p < 0.05），这表明在前一种家族中疾病进展较慢。在5年的随访期间，18名基因携带者中有6名（33%）在US检查中已出现明显的肾囊肿，平均年龄为20±9岁（范围8 - 29岁）。相反，在那个时期，ADPKD1非携带者和ADPKD2的US阴性受试者均未显示出任何肾囊肿疾病的超声检查结果。
