Literature DB >> 8559477

Anticipation of age at renal death in autosomal dominant polycystic kidney disease (ADPKD)?

S Geberth1, E Ritz, M Zeier, E Stier.   

Abstract

It has been claimed that anticipation occurs in ADPKD, i.e. endstage renal failure at progressively earlier age in successive generations. This observation might possibly point to unstable DNA as the molecular basis of ADPKD. We analysed 74 parent-offspring pairs of 148 families in Germany and Austria in whom (i) ADPKD was verified by appropriate imaging procedures and (ii) age at renal death was accurately known. The median difference for age at renal death between parent and offspring was 0 years, range -26.3 to +27.2 years. There was no deviation from normal (Gaussian) distribution according to the Shapiro-Wilk test (P = 0.75). We conclude that systematic anticipation cannot be demonstrated with this sample which had sufficient size for meaningful biostatistical analysis.

Entities:  

Mesh:

Substances:

Year:  1995        PMID: 8559477

Source DB:  PubMed          Journal:  Nephrol Dial Transplant        ISSN: 0931-0509            Impact factor:   5.992


  5 in total

Review 1.  Molecular diagnostics for autosomal dominant polycystic kidney disease.

Authors:  Peter C Harris; Sandro Rossetti
Journal:  Nat Rev Nephrol       Date:  2010-02-23       Impact factor: 28.314

Review 2.  Determinants of renal disease variability in ADPKD.

Authors:  Peter C Harris; Sandro Rossetti
Journal:  Adv Chronic Kidney Dis       Date:  2010-03       Impact factor: 3.620

3.  Variation in age at ESRD in autosomal dominant polycystic kidney disease.

Authors:  Berenice Y Reed; Kim McFann; Mir R Bekheirnia; M Reza Bekheirnia; Niloofar Nobakhthaghighi; Niloofar Nobkhthaghighi; Amirali Masoumi; Ann M Johnson; Alireza A Shamshirsaz; Alireza Abdollah Shamshiraz; Catherine L Kelleher; Robert W Schrier
Journal:  Am J Kidney Dis       Date:  2008-02       Impact factor: 8.860

4.  Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.

Authors:  Sandro Rossetti; Vickie J Kubly; Mark B Consugar; Katharina Hopp; Sushmita Roy; Sharon W Horsley; Dominique Chauveau; Lesley Rees; T Martin Barratt; William G van't Hoff; Patrick Niaudet; W Patrick Niaudet; Vicente E Torres; Peter C Harris
Journal:  Kidney Int       Date:  2009-01-21       Impact factor: 10.612

5.  A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with autosomal dominant polycystic kidney disease.

Authors:  Hamad Ali; Naser Hussain; Medhat Naim; Mohamed Zayed; Fahd Al-Mulla; Elijah O Kehinde; Lauren M Seaburg; Jamie L Sundsbak; Peter C Harris
Journal:  BMC Nephrol       Date:  2015-03-01       Impact factor: 2.388

  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.