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Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.

Flanagan SE, Kapoor RR, Banerjee I, Hall C, Smith VV, Hussain K, Ellard S - Clin. Genet. (2011)

Bottom Line: Most of these patients do not respond to treatment with the (K(ATP)) channel agonist diazoxide.Testing of family members showed that the mutations had arisen de novo with dominant inheritance in one pedigree.The identification of dominant vs recessive mutations does not predict clinical course but it is important for estimating the risk of HH in future siblings and offspring.

View Article: PubMed Central - PubMed

Affiliation: Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, UK.

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(a and b) Comparison of the histology of the resected pancreas from the proband of family 2 and a patient with recessively inherited congenital hyperinsulinism because of ABCC8 mutations. (a) Haematoxylin & eosin (H & E)-stained sections showing the presence of scattered endocrine cells with large and frequently giant endocrine nuclei. The endocrine tissue was poorly organized into islets. (b) H & E-stained sections of pancreatic tissue from a patient with recessive ABCC8 mutations showing the large and frequently giant endocrine nuclei and irregularly sized islets.
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fig02: (a and b) Comparison of the histology of the resected pancreas from the proband of family 2 and a patient with recessively inherited congenital hyperinsulinism because of ABCC8 mutations. (a) Haematoxylin & eosin (H & E)-stained sections showing the presence of scattered endocrine cells with large and frequently giant endocrine nuclei. The endocrine tissue was poorly organized into islets. (b) H & E-stained sections of pancreatic tissue from a patient with recessive ABCC8 mutations showing the large and frequently giant endocrine nuclei and irregularly sized islets.

Mentions: Histological analysis of pancreatic material from the four probands with dominant ABCC8 mutations showed large giant endocrine nuclei in scattered cells that stained positive for insulin antibodies, which is not dissimilar to the changes that are observed in patients with recessive ABCC8 mutations (Table 1 and Fig. 2). Pancreatic polypeptide-positive cells were also observed and immunostaining for somatostatin and glucagon was unremarkable.


Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.

Flanagan SE, Kapoor RR, Banerjee I, Hall C, Smith VV, Hussain K, Ellard S - Clin. Genet. (2011)

(a and b) Comparison of the histology of the resected pancreas from the proband of family 2 and a patient with recessively inherited congenital hyperinsulinism because of ABCC8 mutations. (a) Haematoxylin & eosin (H & E)-stained sections showing the presence of scattered endocrine cells with large and frequently giant endocrine nuclei. The endocrine tissue was poorly organized into islets. (b) H & E-stained sections of pancreatic tissue from a patient with recessive ABCC8 mutations showing the large and frequently giant endocrine nuclei and irregularly sized islets.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3375476&req=5

fig02: (a and b) Comparison of the histology of the resected pancreas from the proband of family 2 and a patient with recessively inherited congenital hyperinsulinism because of ABCC8 mutations. (a) Haematoxylin & eosin (H & E)-stained sections showing the presence of scattered endocrine cells with large and frequently giant endocrine nuclei. The endocrine tissue was poorly organized into islets. (b) H & E-stained sections of pancreatic tissue from a patient with recessive ABCC8 mutations showing the large and frequently giant endocrine nuclei and irregularly sized islets.
Mentions: Histological analysis of pancreatic material from the four probands with dominant ABCC8 mutations showed large giant endocrine nuclei in scattered cells that stained positive for insulin antibodies, which is not dissimilar to the changes that are observed in patients with recessive ABCC8 mutations (Table 1 and Fig. 2). Pancreatic polypeptide-positive cells were also observed and immunostaining for somatostatin and glucagon was unremarkable.

Bottom Line: Most of these patients do not respond to treatment with the (K(ATP)) channel agonist diazoxide.Testing of family members showed that the mutations had arisen de novo with dominant inheritance in one pedigree.The identification of dominant vs recessive mutations does not predict clinical course but it is important for estimating the risk of HH in future siblings and offspring.

View Article: PubMed Central - PubMed

Affiliation: Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, UK.

Show MeSH
Related in: MedlinePlus