A family study of vesicoureteric reflux
A family study of vesicoureteric reflux
复制标题
膀胱输尿管反流的家系研究
作者：
Aida De Vargas;K. Evans;P. Ransley;A. Rosenberg;D. Rothwell;T. Sherwood;D. Williams;T. Barratt;C. Carter
膀胱输尿管反流现在被认为主要是由于膀胱输尿管连接处的先天性畸形。它也被认为是早期成人肾功能衰竭的主要原因。这种情况与复发性尿路感染有关，在某些情况下伴有肾瘢痕形成。当临床检测到反流时，在对复发性尿路感染患者的调查中，肾脏瘢痕形成通常已经存在。这种反流倾向于在童年后期消失。一项基于186例已确定的原发性反流患者的家庭研究，特别关注这些患者的兄弟姐妹和父母的泌尿生殖系统症状史。4岁以下有39个兄弟姐妹。对这些父母进行了排尿膀胱造影调查。20名家长接受了邀请。3例出现反流，其中2例已经有肾瘢痕。所有患有反流的婴幼儿的比例尚不清楚，但少数发表的通过排尿膀胱造影筛查正常婴幼儿的调查表明，患病率约为1%。那么，兄弟姐妹之间的患病率要高出约10倍。主要群体为214名4岁以上的兄弟姐妹。仅对有尿路感染复发史的患儿家长进行静脉肾盂造影检查。如发现肾瘢痕，则行排尿膀胱造影。在110名姐妹中，12名有“症状”，其中5名发现肾瘢痕（1名进行血液透析），3名仍存在反流。在104名兄弟中，7人有“症状”，2人发现肾瘢痕形成，2人均有反流。相比之下，已发表的几项对女学生的调查报告表明，每100人中约有2人有复发性尿路感染，其中约四分之一（0.5%）存在反流，约八分之一（25%）存在肾瘢痕形成。那么，兄弟姐妹的患病率要高出10到20倍。父母的情况也类似：183名母亲中有7人（1人接受血液透析），181名父亲中有2人有肾疤痕。与其他常见畸形一样，该家族的发现与多因素遗传一致。在婴儿期，对膀胱输尿管反流患者的弟弟妹妹进行常规调查，可以识别出反流很早就被发现的患者。这些将是有价值的自然历史的研究和管理的疾病，并在多大程度上是可能的，以防止肾瘢痕的发展。
Vesicoureteric reflux is now considered to be due essentially to congenital malformation of the vesicoureteric junction. It is also considered to be a major cause of renal failure in early adult life. The condition is associated with recurrent urinary tract infection and in some instances with renal scarring. When reflux is detected clinically, in the investigation of patients with recurrent urinary tract infection, renal scarring is often already present. The reflux tends to disappear in later childhood. A family study has been made based on 186 index patients with established primary reflux, with special attention to a history of genitourinary symptoms in the sibs and parents of these patients. There were 39 sibs under the age of 4 years. For these the parents were offered investigation by micturating cystogram. The parents of 20 accepted. Reflux was shown in 3, and in 2 of these there was already renal scarring. The proportion of all infants and young children who have reflux is not accurately known, but the few published surveys of screening of normal infants and young children by micturating cystogram suggest that the prevalence is of the order of 1%. The prevalence in sibs is, then, about 10 times higher. There was a main group of 214 sibs over the age of 4 years. For these the parents were offered investigation by intravenous pyelogram only for those sibs who had a history of recurrent urinary tract infection. If renal scarring was found then a micturating cystogram was done. Of 110 sisters, 12 were `symptomatic', renal scarring was found in 5 of these (1 was on haemodialysis), and reflux was still present in 3. Of 104 brothers 7 were `symptomatic', renal scarring was found in 2 and reflux was present in both. For comparison, the published reports of several surveys of schoolgirls indicate that about 2 in 100 have recurrent urinary tract infection, and in about a quarter of these (0·5%) reflux was present and in about one-eighth (0·25%) renal scarring was present. The prevalence in sibs is, then, 10 to 20 times higher. Similarly in the parents: of 183 mothers 7 (1 was on haemodialysis) and of 181 fathers 2 had renal scarring. The family findings are consistent with multifactorial inheritance, as with other common malformations. Routine investigation, in infancy, of younger sibs of patients with vesicoureteric reflux would identify patients in whom the reflux was recognised very early. These would be valuable for the study of the natural history and management of the disorder, and the degree to which it was possible to prevent the development of renal scarring.