Ekici, Arif B., Hackenbeck, Thomas, Moriniere, Vincent ORCID: 0000-0003-1795-222X, Panness, Andrea, Buettner, Maike, Uebe, Steffen, Janka, Rolf, Wiesener, Antje, Hermann, Ingo, Grupp, Sina, Hornberger, Martin, Huber, Tobias B. ORCID: 0000-0001-7175-5062, Isbel, Nikky, Mangos, George, McGinn, Stella, Soreth-Rieke, Daniela, Beck, Bodo B., Uder, Michael, Amann, Kerstin, Antignac, Corinne, Reis, Andre ORCID: 0000-0002-6301-6363, Eckardt, Kai-Uwe and Wiesener, Michael S. (2014). Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin. Kidney Int., 86 (3). S. 589 - 600. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

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Abstract

For decades, ill-defined autosomal dominant renal diseases have been reported, which originate from tubular cells and lead to tubular atrophy and interstitial fibrosis. These diseases are clinically indistinguishable, but caused by mutations in at least four different genes: UMOD, HNF1B, REN, and, as recently described, MUC1. Affected family members show renal fibrosis in the biopsy and gradually declining renal function, with renal failure usually occurring between the third and sixth decade of life. Here we describe 10 families and define eligibility criteria to consider this type of inherited disease, as well as propose a practicable approach for diagnosis. In contrast to what the frequently used term 'Medullary Cystic Kidney Disease' implies, development of (medullary) cysts is neither an early nor a typical feature, as determined by MRI. In addition to Sanger and gene panel sequencing of the four genes, we established SNaPshot minisequencing for the predescribed cytosine duplication within a distinct repeat region of MUC1 causing a frameshift. A mutation was found in 7 of 9 families (3 in UMOD and 4 in MUC1), with one indeterminate (UMOD p.T62P). On the basis of clinical and pathological characteristics we propose the term 'Autosomal Dominant Tubulointerstitial Kidney Disease' as an improved terminology. This should enhance recognition and correct diagnosis of affected individuals, facilitate genetic counseling, and stimulate research into the underlying pathophysiology.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Ekici, Arif B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hackenbeck, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moriniere, VincentUNSPECIFIEDorcid.org/0000-0003-1795-222XUNSPECIFIED
Panness, AndreaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buettner, MaikeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Uebe, SteffenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Janka, RolfUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wiesener, AntjeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hermann, IngoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Grupp, SinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hornberger, MartinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Huber, Tobias B.UNSPECIFIEDorcid.org/0000-0001-7175-5062UNSPECIFIED
Isbel, NikkyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mangos, GeorgeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
McGinn, StellaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Soreth-Rieke, DanielaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beck, Bodo B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Uder, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Amann, KerstinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Antignac, CorinneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Reis, AndreUNSPECIFIEDorcid.org/0000-0002-6301-6363UNSPECIFIED
Eckardt, Kai-UweUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wiesener, Michael S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-431242
DOI: 10.1038/ki.2014.72
Journal or Publication Title: Kidney Int.
Volume: 86
Number: 3
Page Range: S. 589 - 600
Date: 2014
Publisher: ELSEVIER SCIENCE INC
Place of Publication: NEW YORK
ISSN: 1523-1755
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
JUVENILE HYPERURICEMIC NEPHROPATHY; CRITICAL REGION; UMOD GENE; TYPE-1; LOCUS; REFINEMENT; LINKAGE; MCKD1Multiple languages
Urology & NephrologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/43124

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