The genetic basis of endstage renal disease in the Newfoundland population

• Main Author: O'Dea, Daneile Flynn
• Format: Thesis
• Language: English
• Published: Memorial University of Newfoundland 1997
• Subjects: Canada; Newfoundland
• Online Access: https://research.library.mun.ca/11160/; https://research.library.mun.ca/11160/3/Odea_DanielleFlynn.pdf

The objectives of the current research were (1) to determine the contribution of Mendilian inherited disease to the burden of disease caused by Endstage renal disease; (2) to explore the possibility that polygenic disorders could contribute to the development of Endstage renal disease; and (3) to describe the natural history of single-gene disorders associated with Endstage renal disease identified in the Newfoundland population, with particular focus on new data associated with Bardet-Biedl Syndrome. – To determine the risk of renal failure in family members of probands with Endstage Renal Disease (ESRD), all patients who were receiving treatment for ESRD during 1987-1998 in the province of Newfoundland and Labrador, Canada were studied. Detailed family histories were taken from 584 (87%) of the 669 eligible probands. Of the 85 patients with incomplete family histories, 60 (9%) could not be located and 25 (3.6%) refused to participate. The rate of renal failure in relatives of probands was compared to the rate of renal failure in spousal control families. Spousal controls were chosen because they have been shown to be less subject to recall bias and generally are similar to their spouses for environmental influences. Family histories were collected on 499 (85.4%) of the eligible spouses of probands. No spouses or next of kin could be identified for 65 (I 1%) of the probands and 20 (3.4%) of potential controls refused to participate. -- To determine the original cause of renal disease in the probands the medical records were reviewed. The information gathered was reviewed by a single clinical nephrologist who was blinded to the identity of the patient. Diseases with a Mendelian pattern of inheritance accounted for ESRD in 8.4% of the cases, 4.5% being autosomal dominant polycystic kidney disease, 2.5% Alport's syndrome and the remaining 1.4% to other genetic diseases. This group of cases was excluded from the subsequent familial risk analysis. Glomerulonephritis was the renal diagnosis in 25% of the probands, ...