Presentation is loading. Please wait.

Presentation is loading. Please wait.

Volume 57, Issue 3, Pages (March 2000)

Similar presentations


Presentation on theme: "Volume 57, Issue 3, Pages (March 2000)"— Presentation transcript:

1 Volume 57, Issue 3, Pages 898-907 (March 2000)
Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1β1  Coralie Bingham, Sian Ellard, Lisa Allen, Michael Bulman, Maggie Shepherd, Tim Frayling, Peter J. Berry, Penny M. Clark, Tom Lindner, Graeme I. Bell, Gerhart U. Ryffel, Anthony J. Nicholls, Andrew T. Hattersley  Kidney International  Volume 57, Issue 3, Pages (March 2000) DOI: /j x Copyright © 2000 International Society of Nephrology Terms and Conditions

2 Figure 1 Heterozygous P328L329fsdelCCTCT hepatocyte nuclear factor-1β (HNF-1β) gene mutation in exon 4 and normal control sequence. Kidney International  , DOI: ( /j x) Copyright © 2000 International Society of Nephrology Terms and Conditions

3 Figure 2 Pedigree of family with the P328L329fsdelCCTCT mutation in the HNF-1β gene. Roman numerals on the left of the figure indicate generation number, and numbers below the symbol indicate individual numbers within that generation. The proband is indicated by an arrow. Subjects with diabetes and/or renal manifestations are shaded with the details summarized in the text beneath. The HNF-1β genotype of each individual tested is indicated: N, normal; M, P328L329fsdelCCTCT. The haplotypes derived from microsatellites D17S1788, D17S927, and D17S800 are shown. Kidney International  , DOI: ( /j x) Copyright © 2000 International Society of Nephrology Terms and Conditions

4 Figure 3 Response during the first two hours of a 75 g oral glucose tolerance test of plasma glucose (upper graph) and plasma insulin (lower graph; note log scale). Subject II-2 with an HNF-1β mutation is shown as a solid line, and the 23 normal control subjects are represented in dotted lines (mean, coarse dotted line; +2 SD, fine dotted lines.) Kidney International  , DOI: ( /j x) Copyright © 2000 International Society of Nephrology Terms and Conditions

5 Figure 4 (A) Ultrasound III-2 right kidney. This shows a small, irregular 4 cm kidney containing several cysts (largest 1 cm). (B) Ultrasound III-2 left kidney. This shows a 5.4 cm kidney with a loss of corticomedullary differentiation. Kidney International  , DOI: ( /j x) Copyright © 2000 International Society of Nephrology Terms and Conditions

6 Figure 5 Postmortem appearance of 17-week fetus with bilateral enlarged kidneys. Kidney International  , DOI: ( /j x) Copyright © 2000 International Society of Nephrology Terms and Conditions

7 Figure 6 Histology of fetal kidney. Absent nephrogenesis with replacement of renal parenchyma by cysts separated by mesenchyme. Kidney International  , DOI: ( /j x) Copyright © 2000 International Society of Nephrology Terms and Conditions


Download ppt "Volume 57, Issue 3, Pages (March 2000)"

Similar presentations


Ads by Google