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.
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.
Authors: Sophia Cameron-Christie; Charles J Wolock; Emily Groopman; Slavé Petrovski; Sitharthan Kamalakaran; Gundula Povysil; Dimitrios Vitsios; Mengqi Zhang; Jan Fleckner; Ruth E March; Sahar Gelfman; Maddalena Marasa; Yifu Li; Simone Sanna-Cherchi; Krzysztof Kiryluk; Andrew S Allen; Bengt C Fellström; Carolina Haefliger; Adam Platt; David B Goldstein; Ali G Gharavi Journal: J Am Soc Nephrol Date: 2019-05-13 Impact factor: 10.121
Authors: Dervla M Connaughton; Claire Kennedy; Shirlee Shril; Nina Mann; Susan L Murray; Patrick A Williams; Eoin Conlon; Makiko Nakayama; Amelie T van der Ven; Hadas Ityel; Franziska Kause; Caroline M Kolvenbach; Rufeng Dai; Asaf Vivante; Daniela A Braun; Ronen Schneider; Thomas M Kitzler; Brona Moloney; Conor P Moran; John S Smyth; Alan Kennedy; Katherine Benson; Caragh Stapleton; Mark Denton; Colm Magee; Conall M O'Seaghdha; William D Plant; Matthew D Griffin; Atif Awan; Clodagh Sweeney; Shrikant M Mane; Richard P Lifton; Brenda Griffin; Sean Leavey; Liam Casserly; Declan G de Freitas; John Holian; Anthony Dorman; Brendan Doyle; Peter J Lavin; Mark A Little; Peter J Conlon; Friedhelm Hildebrandt Journal: Kidney Int Date: 2019-02-14 Impact factor: 10.612
Authors: Emily E Groopman; Maddalena Marasa; Sophia Cameron-Christie; Slavé Petrovski; Vimla S Aggarwal; Hila Milo-Rasouly; Yifu Li; Junying Zhang; Jordan Nestor; Priya Krithivasan; Wan Yee Lam; Adele Mitrotti; Stacy Piva; Byum H Kil; Debanjana Chatterjee; Rachel Reingold; Drew Bradbury; Michael DiVecchia; Holly Snyder; Xueru Mu; Karla Mehl; Olivia Balderes; David A Fasel; Chunhua Weng; Jai Radhakrishnan; Pietro Canetta; Gerald B Appel; Andrew S Bomback; Wooin Ahn; Natalie S Uy; Shumyle Alam; David J Cohen; Russell J Crew; Geoffrey K Dube; Maya K Rao; Sitharthan Kamalakaran; Brett Copeland; Zhong Ren; Joshua Bridgers; Colin D Malone; Caroline M Mebane; Neha Dagaonkar; Bengt C Fellström; Carolina Haefliger; Sumit Mohan; Simone Sanna-Cherchi; Krzysztof Kiryluk; Jan Fleckner; Ruth March; Adam Platt; David B Goldstein; Ali G Gharavi Journal: N Engl J Med Date: 2018-12-26 Impact factor: 176.079