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Volume 119, Issue 6, Pages (December 2000)

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Presentation on theme: "Volume 119, Issue 6, Pages (December 2000)"— Presentation transcript:

1 Volume 119, Issue 6, Pages 1506-1513 (December 2000)
Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes  Thomas Müller, *, Cisca Wijmenga, ‡, Alan D. Phillips, §, Andreas Janecke, ∥, Roderick H.J. Houwen, ¶, Helmut Fischer, *, Helmut Ellemunter, *, Martin Frühwirth, *, Felix Offner, #, Sabine Hofer, *, Wilfried Müller, **, Ian W. Booth, ‡‡, Peter Heinz–Erian, *  Gastroenterology  Volume 119, Issue 6, Pages (December 2000) DOI: /gast Copyright © 2000 American Gastroenterological Association Terms and Conditions

2 Fig. 1 Pedigree showing 2 consanguineous families with 5 infants with CSD. In all patients, the disease can be traced back to a single common ancestor 4 (family B) and 5 (family A) generations ago. Circles represent unaffected females, squares unaffected males, and filled symbols individuals affected by CSD. Gastroenterology  , DOI: ( /gast ) Copyright © 2000 American Gastroenterological Association Terms and Conditions

3 Fig. 2 Morphology of jejunal mucosa of patient VI-3 (intravital suction biopsy). (A) Light microscopy (150×; periodic acid–Schiff) of sections of jejunal mucosa showing abnormal crypt hyperplastic villous atrophy, in which villus height equals crypt depth. (B) Transmission electron microscopic image (8000×) of villous columnar epithelium showing marked vacuolation with slightly mounded apical membranes. (C) Transmission electron microscopic image (30,000×) of a villus tip epithelial cell from jejunal mucosa showing distinct membranous whorls within clear vacuoles (arrowhead), lysosomal bodies (arrow), and swollen mitochondria (m). Microvilli are of normal height and structure. Gastroenterology  , DOI: ( /gast ) Copyright © 2000 American Gastroenterological Association Terms and Conditions

4 Fig. 3 Haplotype analysis around the NHE genes. Simplified pedigree of family A showing the haplotypes in the region of the 4 NHE genes. The marker loci, chromosomal location, and position of each NHE gene12 are indicated. Results of the multipoint linkage analysis between the NHE locus and the marker loci are represented below each pedigree. Positions of the markers are indicated by squares; an arrow indicates the position of each NHE gene. Gastroenterology  , DOI: ( /gast ) Copyright © 2000 American Gastroenterological Association Terms and Conditions


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