Article
Autosomal dominant medullary cystic kidney disease: evidence of gene locus heterogeneity.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Aug 1998
Fuchshuber A, Deltas C C, Berthold S, Stavrou C, Vollmer M, Burton C, Feest T, Krieter D, Gal A, Brandis M, Pierides A, Hildebrandt F
Abstract excerpt
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 rena...
Topics
- Adult
- Chromosome Mapping
- DNA
- Female
- Genetic Variation
- Haplotypes
- Humans
- Kidney Medulla
- Male
- Microsatellite Repeats
- Middle Aged
- Pedigree
- Polycystic Kidney, Autosomal Dominant