Volume 61, Issue 4, Pages (April 2002)

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Volume 61, Issue 4, Pages 1243-1251 (April 2002) Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1β mutations Coralie Bingham, Sian Ellard, Trevor R.P. Cole, Katrin E. Jones, Lisa I.S. Allen, Judith A. Goodship, Timothy H.J. Goodship, Daniela Bakalinova-Pugh, Gavin I. Russell, Adrian S. Woolf, Anthony J. Nicholls, Andrew T. Hattersley Kidney International Volume 61, Issue 4, Pages 1243-1251 (April 2002) DOI: 10.1046/j.1523-1755.2002.00272.x Copyright © 2002 International Society of Nephrology Terms and Conditions

Figure 1 (A)Pedigree of family DUK448 with the S151P mutation in the HNF-1βgene.(B) Pedigree of family DUK507 with the Q243-fsdelC mutation in the HNF-1β gene. Roman numerals on the left of the figure indicate generation number, and the numbers below the symbols indicate individuals within that generation. The HNF-1β genotype of each individual tested is indicated below the symbol: N, normal; M, mutated allele. Subjects with renal and/or genital manifestations are shaded with the details summarized in the text beneath. Kidney International 2002 61, 1243-1251DOI: (10.1046/j.1523-1755.2002.00272.x) Copyright © 2002 International Society of Nephrology Terms and Conditions

Figure 2 Intravenous pyelogram (IVP) of left kidney from subject III5 in family DUK507 showing the renal pelvis and blunted calyces. Kidney International 2002 61, 1243-1251DOI: (10.1046/j.1523-1755.2002.00272.x) Copyright © 2002 International Society of Nephrology Terms and Conditions

Figure 3 Histology sections of dysplastic kidney stained with hematoxylin and eosin. (A) Dysplastic tubule (*marks the lumen) surrounded by poorly differentiated stromal tissues(s). (B) Metaplastic cartilage (c). Note the absence of normal nephrons and glomeruli. Bars are 15 μ in A and 150 μ in B. Kidney International 2002 61, 1243-1251DOI: (10.1046/j.1523-1755.2002.00272.x) Copyright © 2002 International Society of Nephrology Terms and Conditions