The Irish Kidney Gene Project - Prevalence of Family History in Patients with Kidney Disease in Ireland

Abstract

Background: The prevalence of kidney disease (KD) due to inherited genetic conditions in Ireland is unknown. The aim of this study was to characterise an adult kidney disease population in Ireland and to identify familial clusters of kidney disease within the population. Methods: This was a multicenter cross-sectional study of patients with kidney disease in the Republic of Ireland, from January 2014 to September 2014, recruiting from dialysis units and out-patient renal departments. A survey was performed by collecting data on etiology of kidney disease and whether a family history of kidney disease exists. Medical records were cross-referenced to confirm the etiology of kidney disease. Results: A total of 1,840 patients were recruited with a mean age of 55.9 years (range 17-94.5) and a male predominance (n = 1,095; 59.5%). A positive family history was reported by 629 participants (34.2%). Excluding polycystic kidney disease (n = 134, 7.3%), a positive family history was reported by 495 participants (26.9%). Kidney disease due to an unknown etiology was the commonest etiology in the non-polycystic kidney disease group with a positive family history (10.6%, n = 67). Kidney diseases that are not classically associated with familial inheritance including tubulo-interstitial kidney disease, congenital abnormalities of the kidney and urinary tract and glomerulonephritis demonstrated familial clustering. Conclusion: In an Irish non-polycystic kidney disease population, 26.9% reports a positive family history. The commonest etiology of kidney disease in the positive family history cohort, excluding autosomal dominant polycystic kidney disease, was kidney disease due to unknown etiology. Examining families with kidney disease provides an opportunity to better understand disease pathogenesis and potentially identify genetic predispositions to kidney disease.

Clinical Genetic Screening in Adult Patients with Kidney Disease

“…Kidney disease is associated with significant morbidity and mortality and affects over 20 million patients in the United States (1). A family history of nephropathy is reported in approximately 30% of cases, revealing the strong role of genetics in kidney disease (2)(3)(4). Genetic testing is increasingly used in clinical nephrology due to expanded utilization and accessibility of genetic sequencing technologies (5,6).…”

Diagnostic Yield of Next-Generation Sequencing in Patients With Chronic Kidney Disease of Unknown Etiology

“…A positive family history is reported by 24-34% of patients with CKD, and familial clustering is a common phenomenon in patients with end-stage renal disease (ESRD) (Akrawi et al, 2014;Skrunes et al, 2014;Connaughton et al, 2015). This indicates that, during the diagnostic workup of a CKD patient, the possibility of a hereditary cause cannot be neglected.…”

Monogenic causes of chronic kidney disease in adults

“…In 34% of adults who have CKD, a positive family history is reported, suggesting a genetic cause. [5][6][7] However, genetic testing of adults is still not routinely performed in clinical practice. Panel sequencing of CKD genes of specific diagnostic groups has revealed a genetic disorder in up to 43% of patients.…”