Article
Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.
BMC nephrology - 12 Jul 2017
Clissold Rhian L, Clarke Helen C, Spasic-Boskovic Olivera, Brugger Kim, Abbs Stephen, Bingham Coralie, Shaw-Smith Charles
Abstract excerpt
BACKGROUND: Heterozygous mutations in the gene encoding renin (REN) cause autosomal dominant tubulointerstitial kidney disease (ADTKD), early-onset anaemia and hyperuricaemia; only four different mutations have been described in the published literature to date. We report a novel dominant REN mutation discovered in an individual after forty years of renal disease. CASE PRESENTATION: A 57 year old Caucasian woman...
Topics
- Amino Acid Sequence
- Female
- Humans
- Kidney Transplantation
- Middle Aged
- Mutation
- Nephritis, Interstitial
- Pedigree
- Renin
- Time Factors