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The clinical investigator

, Volume 70, Issue 9, pp 791–793 | Cite as

Autosomal dominant polycystic kidney disease: from molecular genetics to the patients

  • J. -P. Grünfeld
  • D. Chauveau
  • B. Knebelmann
Guest Lecture, “Gesellschaft für Nephrologie”, 23rd Congress

Summary

One of the gene loci (PKD1) responsible for autosomal dominant polycystic kidney disease was located in 1985 to the short arm of chromosome 16. The clinical consequences of this finding are analyzed. Genetic heterogeneity has been demonstrated since 5%–15% of the families inherit a non-PKD1 mutation. Progress in molecular genetics allows better classification of patients with some atypical manifestations, e.g., those with early renal failure or those with congenital hepatic fibrosis. Identification of the gene(s) and of their defects will provide further progress.

Key words

Autosomal dominant polycystic kidney disease Genetic cystic renal diseases Congenital hepatic fibrosis Intracranial aneurysm 

Abbreviations

ADPKD

autosomal dominant polycystic kidney disease

ESRF

end stage renal failure

PKD

polycystic kidney disease

RFLP

restriction fragment length polymorphisms

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Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • J. -P. Grünfeld
    • 1
  • D. Chauveau
    • 1
  • B. Knebelmann
    • 1
  1. 1.Département de NéphrologieHôpital NeckerParis

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