Adult polycystic kidney disease: knowledge, experience, and attitudes to prenatal diagnosis
| Autor: | Kerzin-Storrar L, Rodney Harris, Kathy Hodgkinson, E A Watters |
|---|---|
| Rok vydání: | 1990 |
| Předmět: |
Adult
Male Health Knowledge Attitudes Practice medicine.medical_specialty Pediatrics Adolescent Genetic counseling Genetic Counseling Prenatal diagnosis Disease Cohort Studies Pregnancy Renal Dialysis Prenatal Diagnosis Surveys and Questionnaires Internal medicine Genetics Polycystic kidney disease medicine Humans Registries Genetics (clinical) Kidney transplantation Polycystic Kidney Diseases business.industry medicine.disease Kidney Transplantation Transplantation Endocrinology Cohort Female business Research Article Cohort study |
| Zdroj: | Journal of Medical Genetics. 27:552-558 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.27.9.552 |
| Popis: | One hundred and ninety subjects from 100 adult polycystic kidney disease (APKD) families on the North Western Regional Genetic Register were interviewed to determine the likely demand for prenatal diagnosis. A detailed questionnaire was used to assess understanding and experience of clinical, therapeutic, and genetic aspects of APKD. Major features of the disease (presence of renal cysts which can lead to renal failure) and forms of therapy (dialysis and transplantation) were known; knowledge of less common features was related to experience. The cohort had had genetic counselling and the majority knew the risk to their own offspring, although the mechanics of the mode of inheritance was often misunderstood. Uptake of presymptomatic ultrasound testing was high, and some implications of early diagnosis are noted. A minority changed their reproductive behaviour as a result of APKD, and although the majority felt a prenatal test should be available, only 23% at high risk of passing on the disease and contemplating children felt they would be interested, and so far only one request for prenatal diagnosis has been received. Thus, demand appears to be low and to be related to perception of the seriousness of APKD. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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