Kidney function and volume progression in unilateral autosomal dominant polycystic kidney disease with contralateral renal agenesis or hypoplasia: a case series.

TitleKidney function and volume progression in unilateral autosomal dominant polycystic kidney disease with contralateral renal agenesis or hypoplasia: a case series.
Publication TypeJournal Article
Year of Publication2009
AuthorsPoster D, Kistler AD, Krauer F, Blumenfeld JD, Rennert H, Weishaupt D, W├╝thrich RP, Serra AL
JournalAm J Kidney Dis
Volume54
Issue3
Pagination450-8
Date Published2009 Sep
ISSN1523-6838
KeywordsAdult, Cohort Studies, Disease Progression, Female, Humans, Kidney, Male, Organ Size, Pedigree, Polycystic Kidney, Autosomal Dominant, Prospective Studies, Young Adult
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 [corrected] mutation in the PKD1 gene that is predicted to cause frameshift and/or truncation of the protein product. [corrected] 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.

DOI10.1053/j.ajkd.2009.03.020
Alternate JournalAm J Kidney Dis
PubMed ID19515475
Grant ListUL1 RR024143-01 / RR / NCRR NIH HHS / United States
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