Genetic Diagnosis and Counseling in Inherited Renal Diseases

  • Jean-Pierre Grünfeld
  • Gabriel Choukroun
  • Bertrand Knebelmann


Inherited kidney diseases are not rare. The main groups are listed in Table 1. All nephrologists are exposed to patients and families with inherited disorders who are seeking diagnosis and counseling. In adults, hereditary renal diseases represent approximately 10%–12% of the causes of end-stage renal disease (ESRD) in most countries, whereas they represent 20%–30% of the causes of ESRD in children. These figures, however, do not reflect the whole clinical scope of inherited kidney disorders, many of which do not progress to ESRD or do not progress in all affected members of an affected family. Thus, many more affected (and unaffected) subjects may require genetic counseling. All nephrologists need some skill in genetics. Much remains to be done in educating physicians and families in genetics (1).


Genetic Counseling Familial Mediterranean Fever Tuberous Sclerosis Autosomal Dominant Polycystic Kidney Disease Polycystic Kidney Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer Science+Business Media New York 1998

Authors and Affiliations

  • Jean-Pierre Grünfeld
    • 1
  • Gabriel Choukroun
    • 1
  • Bertrand Knebelmann
    • 1
  1. 1.Service de Néphrologie, Hôpital NeckerUniversité René Descartes—Paris VParisFrance

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