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Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin

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Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin. / Ekici, Arif B; Hackenbeck, Thomas; Morinière, Vincent; Pannes, Andrea; Buettner, Maike; Uebe, Steffen; Janka, Rolf; Wiesener, Antje; Hermann, Ingo; Grupp, Sina; Hornberger, Martin; Huber, Tobias B; Isbel, Nikky; Mangos, George; McGinn, Stella; Soreth-Rieke, Daniela; Beck, Bodo B; Uder, Michael; Amann, Kerstin; Antignac, Corinne; Reis, André; Eckardt, Kai-Uwe; Wiesener, Michael S.

In: KIDNEY INT, Vol. 86, No. 3, 09.2014, p. 589-99.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Ekici, AB, Hackenbeck, T, Morinière, V, Pannes, A, Buettner, M, Uebe, S, Janka, R, Wiesener, A, Hermann, I, Grupp, S, Hornberger, M, Huber, TB, Isbel, N, Mangos, G, McGinn, S, Soreth-Rieke, D, Beck, BB, Uder, M, Amann, K, Antignac, C, Reis, A, Eckardt, K-U & Wiesener, MS 2014, 'Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin', KIDNEY INT, vol. 86, no. 3, pp. 589-99. https://doi.org/10.1038/ki.2014.72

APA

Ekici, A. B., Hackenbeck, T., Morinière, V., Pannes, A., Buettner, M., Uebe, S., Janka, R., Wiesener, A., Hermann, I., Grupp, S., Hornberger, M., Huber, T. B., Isbel, N., Mangos, G., McGinn, S., Soreth-Rieke, D., Beck, B. B., Uder, M., Amann, K., ... Wiesener, M. 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), 589-99. https://doi.org/10.1038/ki.2014.72

Vancouver

Ekici AB, Hackenbeck T, Morinière V, Pannes A, Buettner M, Uebe S et al. Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin. KIDNEY INT. 2014 Sep;86(3):589-99. https://doi.org/10.1038/ki.2014.72

Bibtex

@article{a39071e7bc8b4d469589aa632777c40f,
title = "Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin",
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.",
keywords = "Atrophy, Chromosome Aberrations, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 16, Female, Fibrosis, Haplotypes, Humans, Kidney Tubules, Magnetic Resonance Imaging, Male, Mucin-1, Nephritis, Interstitial, Pedigree, Terminology as Topic, Uromodulin, Journal Article",
author = "Ekici, {Arif B} and Thomas Hackenbeck and Vincent Morini{\`e}re and Andrea Pannes and Maike Buettner and Steffen Uebe and Rolf Janka and Antje Wiesener and Ingo Hermann and Sina Grupp and Martin Hornberger and Huber, {Tobias B} and Nikky Isbel and George Mangos and Stella McGinn and Daniela Soreth-Rieke and Beck, {Bodo B} and Michael Uder and Kerstin Amann and Corinne Antignac and Andr{\'e} Reis and Kai-Uwe Eckardt and Wiesener, {Michael S}",
year = "2014",
month = sep,
doi = "10.1038/ki.2014.72",
language = "English",
volume = "86",
pages = "589--99",
journal = "KIDNEY INT",
issn = "0085-2538",
publisher = "NATURE PUBLISHING GROUP",
number = "3",

}

RIS

TY - JOUR

T1 - Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin

AU - Ekici, Arif B

AU - Hackenbeck, Thomas

AU - Morinière, Vincent

AU - Pannes, Andrea

AU - Buettner, Maike

AU - Uebe, Steffen

AU - Janka, Rolf

AU - Wiesener, Antje

AU - Hermann, Ingo

AU - Grupp, Sina

AU - Hornberger, Martin

AU - Huber, Tobias B

AU - Isbel, Nikky

AU - Mangos, George

AU - McGinn, Stella

AU - Soreth-Rieke, Daniela

AU - Beck, Bodo B

AU - Uder, Michael

AU - Amann, Kerstin

AU - Antignac, Corinne

AU - Reis, André

AU - Eckardt, Kai-Uwe

AU - Wiesener, Michael S

PY - 2014/9

Y1 - 2014/9

N2 - 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.

AB - 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.

KW - Atrophy

KW - Chromosome Aberrations

KW - Chromosomes, Human, Pair 1

KW - Chromosomes, Human, Pair 16

KW - Female

KW - Fibrosis

KW - Haplotypes

KW - Humans

KW - Kidney Tubules

KW - Magnetic Resonance Imaging

KW - Male

KW - Mucin-1

KW - Nephritis, Interstitial

KW - Pedigree

KW - Terminology as Topic

KW - Uromodulin

KW - Journal Article

U2 - 10.1038/ki.2014.72

DO - 10.1038/ki.2014.72

M3 - SCORING: Journal article

C2 - 24670410

VL - 86

SP - 589

EP - 599

JO - KIDNEY INT

JF - KIDNEY INT

SN - 0085-2538

IS - 3

ER -