An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.

doi:10.1016/j.kint.2020.06.041

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Article

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.

Kidney international - 1 Dec 2020

Živná Martina, Kidd Kendrah, Zaidan Mohamad, Vyleťal Petr, Barešová Veronika, Hodaňová Kateřina, Sovová Jana, Hartmannová Hana, Votruba Miroslav, Trešlová Helena, Jedličková Ivana, Sikora Jakub, Hůlková Helena, Robins Victoria, Hnízda Aleš, Živný Jan, Papagregoriou Gregory, Mesnard Laurent, Beck Bodo B, Wenzel Andrea, Tory Kálmán, Häeffner Karsten, Wolf Matthias T F, Bleyer Michael E, Sayer John A, Ong Albert C M, Balogh Lídia, Jakubowska Anna, Łaszkiewicz Agnieszka, Clissold Rhian, Shaw-Smith Charles, Munshi Raj, Haws Robert M, Izzi Claudia, Capelli Irene, Santostefano Marisa, Graziano Claudio, Scolari Francesco, Sussman Amy, Trachtman Howard, Decramer Stephane, Matignon Marie, Grimbert Philippe, Shoemaker Lawrence R, Stavrou Christoforos, Abdelwahed Mayssa, Belghith Neila, Sinclair Matthew, Claes Kathleen, Kopel Tal, Moe Sharon, Deltas Constantinos, Knebelmann Bertrand, Rampoldi Luca, Kmoch Stanislav, Bleyer Anthony J

Abstract excerpt

There have been few clinical or scientific reports of autosomal dominant tubulointerstitial kidney disease due to REN mutations (ADTKD-REN), limiting characterization. To further study this, we formed an international cohort characterizing 111 individuals from 30 families with both clinical and laboratory findings. Sixty-nine individuals had a REN mutation in the signal peptide region (signal group), 27 in the...

Topics

Adult
Anemia
Child
Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Female

Humans

Male

Mutation

Polycystic Kidney Diseases

Renin

Young Adult

Source

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Identifiers

PMID: 32750457
DOI: 10.1016/j.kint.2020.06.041
PMCID: PMC7719087

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