Universität zu Köln

Beck, Bodo B., Trachtman, Howard ORCID: 0000-0001-7447-9489, Gitman, Michael, Miller, Ilene, Sayer, John A. ORCID: 0000-0003-1881-3782, Pannes, Andrea, Baasner, Anne, Hildebrandt, Friedhelm and Wolf, Matthias T. F. (2011). Autosomal Dominant Mutation in the Signal Peptide of Renin in a Kindred With Anemia, Hyperuricemia, and CKD. Am. J. Kidney Dis., 58 (5). S. 821 - 826. PHILADELPHIA: W B SAUNDERS CO-ELSEVIER INC. ISSN 0272-6386

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Abstract

Homozygous or compound heterozygous mutations in renin (REN) cause renal tubular dysgenesis, which is characterized by death in utero due to kidney failure and pulmonary hypoplasia. The phenotype resembles the fetopathy caused by angiotensin-converting enzyme inhibitor or angiotensin receptor blocker intake during pregnancy. Recently, heterozygous REN mutations were shown to result in early-onset hyperuricemia, anemia, and chronic kidney disease (CKD). To date, only 3 different heterozygous REN mutations have been published. We report mutation analysis of the REN gene in 39 kindreds with hyperuricemia and CKD who previously tested negative for mutations in the UMOD (uromodulin) and HNF1B (hepatocyte nuclear factor 1 beta) genes. We identified one kindred with a novel thymidine to cytosine mutation at position 28 in the REN complementary DNA, corresponding to a tryptophan to arginine substitution at amino acid 10, which is found within the signal sequence (c.28T>C; p.W10R). On this basis, we conclude that REN mutations are rare events in patients with CKD. Within the kindred, we found affected individuals over 4 generations who carried the novel REN mutation and were characterized by significant anemia, hyperuricemia, and CKD. Anemia was severe and disproportional to the degree of decreased kidney function. Because all heterozygous REN mutations that have been described are localized in the signal sequence, screening of the REN gene for patients with CKD with hyperuricemia and anemia may best be focused on sequencing of exon 1, which encodes the signal peptide. Am J Kidney Dis. 58(5):821-825. Published by Elsevier Inc. on behalf of the National Kidney Foundation, Inc. This is a US Government Work. There are no restrictions on its use.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Beck, Bodo B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Trachtman, Howard UNSPECIFIED orcid.org/0000-0001-7447-9489 UNSPECIFIED Gitman, Michael UNSPECIFIED UNSPECIFIED UNSPECIFIED Miller, Ilene UNSPECIFIED UNSPECIFIED UNSPECIFIED Sayer, John A. UNSPECIFIED orcid.org/0000-0003-1881-3782 UNSPECIFIED Pannes, Andrea UNSPECIFIED UNSPECIFIED UNSPECIFIED Baasner, Anne UNSPECIFIED UNSPECIFIED UNSPECIFIED Hildebrandt, Friedhelm UNSPECIFIED UNSPECIFIED UNSPECIFIED Wolf, Matthias T. F. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-486516
DOI:	10.1053/j.ajkd.2011.06.029
Journal or Publication Title:	Am. J. Kidney Dis.
Volume:	58
Number:	5
Page Range:	S. 821 - 826
Date:	2011
Publisher:	W B SAUNDERS CO-ELSEVIER INC
Place of Publication:	PHILADELPHIA
ISSN:	0272-6386
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language ANGIOTENSIN-II; HYPERTENSIVE PATIENTS; GENE MUTATION; ERYTHROPOIETIN; PROLIFERATION; KIDNEY; BLOOD Multiple languages Urology & Nephrology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/48651