Case ReportAutosomal Dominant Mutation in the Signal Peptide of Renin in a Kindred With Anemia, Hyperuricemia, and CKD
Section snippets
Case Report
We detected a novel heterozygous REN mutation in 1 of 39 kindreds (more information about patients and methods provided in Item S1, available as online supplementary material), indicating that heterozygous REN mutations are a rare cause of CKD with hyperuricemia and anemia. The novel REN mutation was a thymidine to cytosine change at position 28 of the REN complementary DNA (c.28T>C); this mutation lies within the first exon, which encodes the signal peptide, and corresponds to a tryptophan to
Discussion
The occurrence of anemia is surprising because kidney function in our patients initially was not profoundly decreased. Early onset of anemia also has been described by Živná et al8 in a 1-year-old affected child. Interestingly, when children advance to adolescence, anemia improves, with normal hemoglobin levels as long as kidney function is not too impaired.9 Increasing testosterone synthesis has been hypothesized to compensate for the childhood anemia,14 and the anemia is reported to respond
Acknowledgements
Support: This work was supported by a grant from the Maria Pesch Foundation Faculty of Medicine, University of Cologne, to Dr Beck, a National Institutes of Health grant (DK088767) to Dr Hildebrandt, and a grant from the Pediatric Scientist Development Program to Dr Wolf. Dr Hildebrandt is an investigator of the Howard Hughes Medical Institute, a Doris Duke Distinguished Clinical Scientist, and a F.G.L. Huetwell Professor.
Financial Disclosure: The authors declare that they have no relevant
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Originally published online September 9, 2011.