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Familial intestinal degenerative neuropathy associated with chronic intestinal pseudo-obstruction.

Ahlfors, F; Linander, H; Lindström, Martin LU ; Veress, B and Abrahamsson, H (2011) In Neurogastroenterology and Motility 23.
Abstract
Background Few families with autosomal dominant forms of chronic idiopathic pseudo-obstruction (CIP) have been identified and reported. Methods We compared two families by clinical, laboratory, histopathologic, and genealogical investigations. Ten patients (pts) (five women) from two families, A and B, both with a family history suggesting autosomal dominant CIP, were investigated. Key Results All pts had chronic diarrhea, nine of ten pts had chronic abdominal pain and seven of ten chronic vomiting. Median age for onset of symptoms was 23 (A) and 34 years (B). None had dysphagia, urogenital, neurologic, or ocular symptoms. Small bowel transit and jejunal culture were abnormal in eight of nine. Manometry showed severe jejunal hypomotility... (More)
Background Few families with autosomal dominant forms of chronic idiopathic pseudo-obstruction (CIP) have been identified and reported. Methods We compared two families by clinical, laboratory, histopathologic, and genealogical investigations. Ten patients (pts) (five women) from two families, A and B, both with a family history suggesting autosomal dominant CIP, were investigated. Key Results All pts had chronic diarrhea, nine of ten pts had chronic abdominal pain and seven of ten chronic vomiting. Median age for onset of symptoms was 23 (A) and 34 years (B). None had dysphagia, urogenital, neurologic, or ocular symptoms. Small bowel transit and jejunal culture were abnormal in eight of nine. Manometry showed severe jejunal hypomotility in the fasting and fed state and absence of normal phase III in all nine pts and neuropathy-like duodenal alterations in eight of nine. Progress to overt CIP had occurred in six pts. Histopathologic re-evaluation (three pts) showed that criteria of visceral degenerative neuropathy were fulfilled in both families including intranuclear inclusions in all three pts. Genealogic exploration using the unique Swedish Register for Catechetical Meetings disclosed that the two families with all likelihood shared a male ancestor in the 1890s. Conclusions & Inferences The compiled results with striking similarities between family A and B together with genealogy findings indicate that this is one, large kindred with a familial autosomal dominant form of intestinal degenerative neuropathy often progressing to CIP but without extra-intestinal manifestations. This is the fourth and, so far, the largest family reported with these characteristics. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Neurogastroenterology and Motility
volume
23
publisher
Wiley-Blackwell
external identifiers
  • wos:000288262100010
  • pmid:21122031
  • scopus:79954619256
ISSN
1350-1925
DOI
10.1111/j.1365-2982.2010.01638.x
language
English
LU publication?
yes
id
5b68dccb-bb73-4a1b-881e-1839c29a1ba4 (old id 1756840)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/21122031?dopt=Abstract
date added to LUP
2011-01-03 14:46:36
date last changed
2017-07-30 04:51:51
@article{5b68dccb-bb73-4a1b-881e-1839c29a1ba4,
  abstract     = {Background Few families with autosomal dominant forms of chronic idiopathic pseudo-obstruction (CIP) have been identified and reported. Methods We compared two families by clinical, laboratory, histopathologic, and genealogical investigations. Ten patients (pts) (five women) from two families, A and B, both with a family history suggesting autosomal dominant CIP, were investigated. Key Results All pts had chronic diarrhea, nine of ten pts had chronic abdominal pain and seven of ten chronic vomiting. Median age for onset of symptoms was 23 (A) and 34 years (B). None had dysphagia, urogenital, neurologic, or ocular symptoms. Small bowel transit and jejunal culture were abnormal in eight of nine. Manometry showed severe jejunal hypomotility in the fasting and fed state and absence of normal phase III in all nine pts and neuropathy-like duodenal alterations in eight of nine. Progress to overt CIP had occurred in six pts. Histopathologic re-evaluation (three pts) showed that criteria of visceral degenerative neuropathy were fulfilled in both families including intranuclear inclusions in all three pts. Genealogic exploration using the unique Swedish Register for Catechetical Meetings disclosed that the two families with all likelihood shared a male ancestor in the 1890s. Conclusions & Inferences The compiled results with striking similarities between family A and B together with genealogy findings indicate that this is one, large kindred with a familial autosomal dominant form of intestinal degenerative neuropathy often progressing to CIP but without extra-intestinal manifestations. This is the fourth and, so far, the largest family reported with these characteristics.},
  author       = {Ahlfors, F and Linander, H and Lindström, Martin and Veress, B and Abrahamsson, H},
  issn         = {1350-1925},
  language     = {eng},
  publisher    = {Wiley-Blackwell},
  series       = {Neurogastroenterology and Motility},
  title        = {Familial intestinal degenerative neuropathy associated with chronic intestinal pseudo-obstruction.},
  url          = {http://dx.doi.org/10.1111/j.1365-2982.2010.01638.x},
  volume       = {23},
  year         = {2011},
}