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Volume 88, Issue 1, Pages 160-166 (July 2015)
Smaller caliber renal arteries are a novel feature of uromodulin-associated kidney disease Aleksander Prejbisz, Lorenz Sellin, Elżbieta Szwench-Pietrasz, Magdalena Woznowski, Ilona Michałowska, Dirk Blondin, Dariusz Sajnaga, Jorg T. Epplen, Mieczysław Litwin, Gabriele Dekomien, Magdalena Januszewicz, Udo Helmchen, Joanna Matuszkiewicz- Rowińska, Marcin Adamczak, Andrzej Więcek, Andrzej Januszewicz, Lars C. Rump Kidney International Volume 88, Issue 1, Pages (July 2015) DOI: /ki Copyright © 2015 International Society of Nephrology Terms and Conditions
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Figure 1 Family tree. The three generations of the investigated family of Polish origin live in Poland and Germany. The index patient (arrow) II:1 was found to have small caliber renal arteries. Black symbols mark family members with renal insufficiency and hyperuricemia. Gray symbols mark family members with hyperuricemia. Dashed symbol outlines indicate anamnestic information. The genotype for UMOD P236R (if available) is shown below the symbols (WT—wild type, MUT—mutant). Family members with small renal arteries in the angio-CT are marked with an (*). In case of deceased family members the clinical symptoms could only be obtained historically and genomic DNA was available only from the mother of the index case (I:1). Information about the parents of the generation I was not available. Kidney International , DOI: ( /ki ) Copyright © 2015 International Society of Nephrology Terms and Conditions
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Figure 2 UMOD mutation analysis. (a) Genomic DNA of the family members was directly sequenced within UMOD exon 3. Top: partial DNA sequences (wild type family member); bottom: mutation carrier (position 707, heterozygous). (b) Genotyping was performed in agarose gels after Ava II restriction digest of respective PCR fragments (WT, wild type; HET, mutant in heterozygous state). Kidney International , DOI: ( /ki ) Copyright © 2015 International Society of Nephrology Terms and Conditions
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Figure 3 Contrast-enhanced CT angiogram of the renal arteries with small caliber renal arteries (MIP) (index patient II:1). The blue arrows mark the renal arteries. Kidney International , DOI: ( /ki ) Copyright © 2015 International Society of Nephrology Terms and Conditions
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Figure 4 Immunohistochemistry for uromodulin in the renal biopsy of patient II:8. Uromodulin protein expression within the distal tubular apparatus is condensed. The tubular cells are of irregular shape. Scale bar shown represents 50 μm. Kidney International , DOI: ( /ki ) Copyright © 2015 International Society of Nephrology Terms and Conditions
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Figure 5 Correlation of renal artery diameter with eGFR and serum uric acid. (a) Mean renal artery diameter measured within 5 mm distal of the aortic ostium correlates significantly with the eGFR in affected and nonaffected family members (P=0.002). In patients with accessory renal artery, only the diameter from the opposite side was used. (b) Correlation of serum uric acid levels and renal artery diameter. Mean renal arteries diameter measured within 5 mm distal of the aortic ostium inversely correlated to the serum uric acid levels in affected and nonaffected family members (P=0.015). In patients with accessory renal artery, only the diameter from the opposite side was used. Kidney International , DOI: ( /ki ) Copyright © 2015 International Society of Nephrology Terms and Conditions
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