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以色列成人多囊肾病的遗传咨询

Genetic counseling in adult polycystic kidney disease in Israel.

作者信息

Lifshitz A, Weinstein T, Zevin D, Gafter U, Ori Y, Levi J

机构信息

Department of Nephrology, Hasharon Hospital, Petah Tiqwa, Israel.

出版信息

Nephron. 1990;55(4):386-8. doi: 10.1159/000186005.

Abstract

45 patients with autosomal dominant polycystic kidney disease (APKD) were interviewed with regard to their knowledge about the familial nature of their disease. 22 patients (mean age up to 57 years) were treated with chronic dialysis, and 23 (mean age up to 49 years) had either normal serum creatinine or chronic renal failure without dialysis (serum creatinine range 1-7 mg/dl). Most of the patients knew the name and prognosis of their disease, but only 9% of them knew that half of their children might be at risk. Only 38% of the patients wanted to know that they had APKD before they had children and only 18% would not have had children if they had known beforehand that they were ill. 45% of the patients on dialysis and 78% of the patients not on dialysis would have had children in spite of their disease. The difference between the two groups is significant (p = 0.006). There was a correlation between the duration of follow-up of the patients and their children's knowledge (r = 0.38; p = 0.017). Genetic counseling in Israel is similar to that in other countries, but there is a large difference between the patients in Israel and others regarding their attitude towards childbearing. The finding of a linkage between a polymorphic region on chromosome 16 (3' HVR) to the locus of APKD makes a prenatal diagnosis of the disease possible. This could be a valuable tool for efficient counseling in the future.

摘要

我们就常染色体显性多囊肾病(APKD)患者对其疾病家族性本质的了解情况对45名患者进行了访谈。22名患者(平均年龄达57岁)接受了慢性透析治疗,23名患者(平均年龄达49岁)血清肌酐正常或患有无需透析的慢性肾衰竭(血清肌酐范围为1 - 7mg/dl)。大多数患者知道自己疾病的名称和预后,但只有9%的患者知道他们的孩子有一半可能面临患病风险。只有38%的患者在生育前想知道自己患有APKD,只有18%的患者如果事先知道自己患病就不会生育。45%接受透析的患者和78%未接受透析的患者尽管患病仍会生育。两组之间的差异具有显著性(p = 0.006)。患者的随访时间与其子女的知晓情况之间存在相关性(r = 0.38;p = 0.017)。以色列的遗传咨询与其他国家类似,但以色列患者与其他国家患者在生育态度方面存在很大差异。16号染色体上一个多态性区域(3'HVR)与APKD基因座之间的连锁关系的发现使得该病的产前诊断成为可能。这在未来可能成为高效咨询的一个有价值的工具。

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