Nephrology Dialysis Transplantation, Vol 13, Issue 8 1955-1957, Copyright © 1998 by Oxford University Press
A Fuchshuber, C Deltas, S Berthold, C Stavrou, M Vollmer, C Burton, T Feest, D Krieter, A Gal, M Brandis, A Pierides and F Hildebrandt
Autosomal dominant medullary cystic kidney disease (ADMCKD; synonym:
medullary cystic disease, MCD) is an autosomal dominant kidney disorder,
sharing morphological and clinical features with recessive juvenile
nephronophthisis (NPH), such as reduced urinary concentration ability and
multiple renal cysts at the corticomedullary junction. While in NPH
end-stage renal disease (ESRD) occurs in adolescence, ADMCKD leads to ESRD
in adulthood. Recently a gene locus for ADMCKD has been localized to
chromosome 1q21 in two large Cypriot families. This prompted us to examine
linkage in three ADMCKD-families, using the same set of polymorphic
microsatellite markers spanning the critical region on chromosome 1q21.
Haplotype analysis revealed that none of the three families showed linkage
to this locus, thus demonstrating evidence for genetic locus heterogeneity.
Additional linkage analysis studies need to be performed in order to
identify further gene loci cosegregating with this autosomal dominant
kidney disorder. Keywords: autosomal dominant
medullary cystic kidney disease; chronic renal failure; haplotype analysis;
juvenile nephronophthisis; medullary cystic disease
RAPID COMMUNICATIONS
Autosomal dominant medullary cystic kidney disease: evidence of gene locus heterogeneity
University Children's Hospital, Freiburg, Germany; The Cyprus Institute of Nephrology and Genetics, Department of Molecular Genetics, Nicosia, Cyprus; Department of Nephrology, Ministry of Health, Nicosia, Cyprus; Southmead Hospital, The Richard Bright Renal Unit, Bristol, UK; University Hospital, Department of Nephrology, Gottingen, Germany; University Hospital, Institute of Human Genetics, Hamburg, Germany; Correspondence to: CC Deltas, The Cyprus Institute of Neurology and Genetics, Department of Molecular Genetics, PO Box 3462, 6 International Airport Avenue, Ayios Dhometios, 1683 Nicosia, Cyprus
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