Volume 74, Issue 8, Pages (October 2008)

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Volume 74, Issue 8, Pages 1094-1099 (October 2008) A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes Christie P. Thomas, Jerold C. Erlandson, Emma L. Edghill, Andrew T. Hattersley, Alan H. Stolpen Kidney International Volume 74, Issue 8, Pages 1094-1099 (October 2008) DOI: 10.1038/ki.2008.227 Copyright © 2008 International Society of Nephrology Terms and Conditions

Figure 1 Serum creatinine and estimated glomerular filtration rate over time. Kidney International 2008 74, 1094-1099DOI: (10.1038/ki.2008.227) Copyright © 2008 International Society of Nephrology Terms and Conditions

Figure 2 MR images of the kidney and pancreas. (a) Coronal T2 image showing multiple renal cysts bilaterally and atrophy of the right kidney. (b) Coronal fat-suppressed T1 image shows two left renal cysts with high signal (arrows) characteristic of subacute hemorrhage. (c and d) Contrast-enhanced axial fat-suppressed T1 images demonstrate (c) normal pancreatic head (open arrow), uncinate process (arrowhead), and distal common bile duct (filled arrow). However, there is (d) absence of pancreatic parenchyma in the expected locations of the body and tail (asterisk) anterior to the splenic vein (arrow). Kidney International 2008 74, 1094-1099DOI: (10.1038/ki.2008.227) Copyright © 2008 International Society of Nephrology Terms and Conditions

Figure 3 The nucleotide sequence of amplified HNF1B showing a heterozygous missense mutation in the affected patient compared with that of a normal control. The electropherogram shows the double A/C peak of reduced amplitude at nucleotide position 728 (vertical arrow). Kidney International 2008 74, 1094-1099DOI: (10.1038/ki.2008.227) Copyright © 2008 International Society of Nephrology Terms and Conditions

Figure 4 A schematic of the HNF1B gene structure illustrating the 65 different mutations identified within the coding region in 143 cases to date. Numbers in parenthesis next to identified mutation indicate the number of probands with the reported mutation. All other mutations have so far been described in just one proband/kindred. The mutation identified in this report is indicated with an asterisk. Kidney International 2008 74, 1094-1099DOI: (10.1038/ki.2008.227) Copyright © 2008 International Society of Nephrology Terms and Conditions