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Monogenic hypertension: Lessons from the genome

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Presentation on theme: "Monogenic hypertension: Lessons from the genome"— Presentation transcript:

1 Monogenic hypertension: Lessons from the genome
Prof Dr Friedrich C. Luft  Kidney International  Volume 60, Issue 1, Pages (July 2001) DOI: /j x Copyright © 2001 International Society of Nephrology Terms and Conditions

2 Figure 1 Roentgenogram of the patient's hands. All metacarpals and the phalangeal bones are shortened. In this adult the cone-shaped epiphyses are not visible as in childhood; however, the residua identify this brachydactyly as a type E. Kidney International  , DOI: ( /j x) Copyright © 2001 International Society of Nephrology Terms and Conditions

3 Figure 2 The chromosome 12p deletion in a Japanese child, the cosegregating markers from the Turkish family with autosomal-dominant hypertension and brachydactyly, and those two North American families with the same syndrome. Kidney International  , DOI: ( /j x) Copyright © 2001 International Society of Nephrology Terms and Conditions

4 Figure 3 Magnetic resonance imaging study of posterior fossa vessels from a member of the Turkish family with autosomal-dominant hypertension and brachydactyly. The loop made by the posterior-inferior cerebellar artery (PICA) on the left is clearly visible. VLM, ventrolateral medulla. Kidney International  , DOI: ( /j x) Copyright © 2001 International Society of Nephrology Terms and Conditions

5 Figure 4 Doses of phenylephrine required to raise mean blood pressure by 12.5mm Hg in 5 members of the Turkish family (▪), 6 normal control subjects (□), and in both groups after complete ganglion blockade (“block”) with trimethaphan. Note that the discrepancy between the two groups at baseline was markedly reduced by ganglion blockade supporting failure of baroreflex blood pressure buffering in the Turkish family. Kidney International  , DOI: ( /j x) Copyright © 2001 International Society of Nephrology Terms and Conditions

6 Kidney International 2001 60, 381-390DOI: (10. 1046/j. 1523-1755. 2001
Kidney International  , DOI: ( /j x) Copyright © 2001 International Society of Nephrology Terms and Conditions


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