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Rapid genetic analysis in congenital hyperinsulinism

Christesen, Henrik B. T.; Brusgaard, Klaus; Alm, Jan; Sjöblad, Sture LU ; Hussain, Khalid; Fenger, Claus; Rasmussen, Lars; Hovendal, Claus; Otonkoski, Timo and Jacobsen, Bendt Brock (2007) In Hormone Research 67(4). p.184-188
Abstract
Backgound: In severe, medically unresponsive congenital hyperinsulinism (CHI), the histological differentiation of focal versus diffuse disease is vital, since the surgical management is completely different. Genetic analysis may help in the differential diagnosis, as focal CHI is associated with a paternal germline ABCC8 or KCNJ11 mutation and a focal loss of maternal chromosome 11p15, whereas a maternal mutation, or homozygous/compound heterozygous ABCC8 and KCNJ11 mutations predict diffuse-type disease. However, genotyping usually takes too long to be helpful in the absence of a founder mutation. Methods: In 4 patients, a rapid genetic analysis of the ABBC8 and KCNJ11 genes was performed within 2 weeks on request prior to the decision... (More)
Backgound: In severe, medically unresponsive congenital hyperinsulinism (CHI), the histological differentiation of focal versus diffuse disease is vital, since the surgical management is completely different. Genetic analysis may help in the differential diagnosis, as focal CHI is associated with a paternal germline ABCC8 or KCNJ11 mutation and a focal loss of maternal chromosome 11p15, whereas a maternal mutation, or homozygous/compound heterozygous ABCC8 and KCNJ11 mutations predict diffuse-type disease. However, genotyping usually takes too long to be helpful in the absence of a founder mutation. Methods: In 4 patients, a rapid genetic analysis of the ABBC8 and KCNJ11 genes was performed within 2 weeks on request prior to the decision of pancreatic surgery. Results: Two patients had no mutations, rendering the genetic analysis non-informative. Peroperative multiple biopsies showed diffuse disease. One patient had a paternal KCNJ11 mutation and focal disease confirmed by positron emission tomography scan and biopsies. One patient had a de novo heterozygous ABBC8 mutation and unexplained diffuse disease confirmed by positron emission tomography scan and biopsies. Conclusion: A rapid analysis of the entire ABBC8 and KCNJ11 genes should not stand alone in the preoperative assessment of patients with CHI, except for the case of maternal, or homozygous/compound heterozygous disease-causing mutations. Copyright (c) 2007 S. Karger AG, Basel. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
hyperinsulinaemic hypoglycaemia, genotype-phenotype correlation, beta-cell, congenital hyperinsulinism
in
Hormone Research
volume
67
issue
4
pages
184 - 188
publisher
Karger
external identifiers
  • wos:000244747400004
  • scopus:33947402344
ISSN
0301-0163
DOI
10.1159/000097063
language
English
LU publication?
yes
id
8ee2ea32-d1b3-403f-a65e-6a2167868f6e (old id 671662)
date added to LUP
2007-12-06 10:00:30
date last changed
2017-01-01 07:25:02
@article{8ee2ea32-d1b3-403f-a65e-6a2167868f6e,
  abstract     = {Backgound: In severe, medically unresponsive congenital hyperinsulinism (CHI), the histological differentiation of focal versus diffuse disease is vital, since the surgical management is completely different. Genetic analysis may help in the differential diagnosis, as focal CHI is associated with a paternal germline ABCC8 or KCNJ11 mutation and a focal loss of maternal chromosome 11p15, whereas a maternal mutation, or homozygous/compound heterozygous ABCC8 and KCNJ11 mutations predict diffuse-type disease. However, genotyping usually takes too long to be helpful in the absence of a founder mutation. Methods: In 4 patients, a rapid genetic analysis of the ABBC8 and KCNJ11 genes was performed within 2 weeks on request prior to the decision of pancreatic surgery. Results: Two patients had no mutations, rendering the genetic analysis non-informative. Peroperative multiple biopsies showed diffuse disease. One patient had a paternal KCNJ11 mutation and focal disease confirmed by positron emission tomography scan and biopsies. One patient had a de novo heterozygous ABBC8 mutation and unexplained diffuse disease confirmed by positron emission tomography scan and biopsies. Conclusion: A rapid analysis of the entire ABBC8 and KCNJ11 genes should not stand alone in the preoperative assessment of patients with CHI, except for the case of maternal, or homozygous/compound heterozygous disease-causing mutations. Copyright (c) 2007 S. Karger AG, Basel.},
  author       = {Christesen, Henrik B. T. and Brusgaard, Klaus and Alm, Jan and Sjöblad, Sture and Hussain, Khalid and Fenger, Claus and Rasmussen, Lars and Hovendal, Claus and Otonkoski, Timo and Jacobsen, Bendt Brock},
  issn         = {0301-0163},
  keyword      = {hyperinsulinaemic hypoglycaemia,genotype-phenotype correlation,beta-cell,congenital hyperinsulinism},
  language     = {eng},
  number       = {4},
  pages        = {184--188},
  publisher    = {Karger},
  series       = {Hormone Research},
  title        = {Rapid genetic analysis in congenital hyperinsulinism},
  url          = {http://dx.doi.org/10.1159/000097063},
  volume       = {67},
  year         = {2007},
}