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Kidney function and volume progression in unilateral autosomal dominant polycystic kidney disease with contralateral renal agenesis or hypoplasia: a case series - Zurich Open Repository and Archive


Poster, D; Kistler, A D; Krauer, F; Blumenfeld, J D; Rennert, H; Weishaupt, D; Wüthrich, R P; Serra, A L (2009). Kidney function and volume progression in unilateral autosomal dominant polycystic kidney disease with contralateral renal agenesis or hypoplasia: a case series. American Journal of Kidney Diseases, 54(3):450-458.

Abstract

BACKGROUND: The occurrence of unilateral autosomal dominant polycystic kidney disease (ADPKD) with absence of the contralateral kidney has been described only rarely in the literature. Whether unilateral ADPKD is associated with faster disease progression is not known. STUDY DESIGN: Case series. SETTING & PARTICIPANTS: In a prospective cohort of 182 patients with ADPKD, we identified 3 patients with ADPKD and unilateral renal agenesis (2 patients) or severe hypoplasia (1 patient). MEASUREMENTS & OUTCOMES: Genetic analysis of the PKD1 and PKD2 genes was performed for all 3 patients. Serum creatinine levels and kidney volumes based on magnetic resonance imaging were determined twice, with a 6-month interval between measurements. Characteristics of the 3 patients were compared with age- and sex-matched controls from the full cohort. RESULTS: Genotyping of the 3 patients indicated that each had a different truncating mutation in the PKD1 gene. All 3 patients with unilateral ADPKD had renal volumes and progression rates greater than the mean values of their matched control groups. However, their glomerular filtration rates were well preserved, with estimated single-kidney creatinine clearances much greater than their controls. LIMITATIONS: The number of cases in this study is small and time of follow-up was limited. CONCLUSIONS: Unilateral renal agenesis or hypoplasia in patients with ADPKD might not be as rare as previously thought. Glomerular filtration rate was preserved despite unilateral renal absence, suggesting that renal compensatory mechanisms are well conserved in patients with ADPKD.

Abstract

BACKGROUND: The occurrence of unilateral autosomal dominant polycystic kidney disease (ADPKD) with absence of the contralateral kidney has been described only rarely in the literature. Whether unilateral ADPKD is associated with faster disease progression is not known. STUDY DESIGN: Case series. SETTING & PARTICIPANTS: In a prospective cohort of 182 patients with ADPKD, we identified 3 patients with ADPKD and unilateral renal agenesis (2 patients) or severe hypoplasia (1 patient). MEASUREMENTS & OUTCOMES: Genetic analysis of the PKD1 and PKD2 genes was performed for all 3 patients. Serum creatinine levels and kidney volumes based on magnetic resonance imaging were determined twice, with a 6-month interval between measurements. Characteristics of the 3 patients were compared with age- and sex-matched controls from the full cohort. RESULTS: Genotyping of the 3 patients indicated that each had a different truncating mutation in the PKD1 gene. All 3 patients with unilateral ADPKD had renal volumes and progression rates greater than the mean values of their matched control groups. However, their glomerular filtration rates were well preserved, with estimated single-kidney creatinine clearances much greater than their controls. LIMITATIONS: The number of cases in this study is small and time of follow-up was limited. CONCLUSIONS: Unilateral renal agenesis or hypoplasia in patients with ADPKD might not be as rare as previously thought. Glomerular filtration rate was preserved despite unilateral renal absence, suggesting that renal compensatory mechanisms are well conserved in patients with ADPKD.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Clinic for Nephrology
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2009
Deposited On:12 Jan 2010 12:49
Last Modified:05 Apr 2016 13:43
Publisher:Elsevier
ISSN:0272-6386
Publisher DOI:https://doi.org/10.1053/j.ajkd.2009.03.020
PubMed ID:19515475

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