Abstract
Congenital hyperinsulinism is the most common cause of persistent neonatal hypoglycemia. Severe congenital hyperinsulinism is most often due to inactivating mutations in either the ABCC8 or KCNJ11 genes, which encode the SUR1 and Kir6.2 proteins, respectively - the two components of the ATP-sensitive K+ (KATP) channel; neonatal hypoglycemia due to macroscopic insulin-producing pancreatic lesions or adenomas are extremely rare. KATP channel hyperinsulinism is classified as diffuse or focal, the latter being associated with paternally-derived mutations of ABCC8 or KCNJ11 and somatic loss of heterozygosity of the maternal alleles. KATP channelopathies usually produce microscopic intra-pancreatic lesions and are typically unresponsive to drug therapy, requiring >95% pancreatectomy for diffuse disease and occasionally more limited pancreatic resection for focal disease; macroscopic pancreatic lesions and adenomas are focally excised. We describe a 1 month-old infant with severe congenital hyperinsulinism who had a macroscopic insulin-producing pancreatic lesion successfully treated with focal lesion enucleation.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 437-440 |
| Number of pages | 4 |
| Journal | Journal of Pediatric Endocrinology and Metabolism |
| Volume | 20 |
| Issue number | 3 |
| State | Published - Mar 2007 |
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Keywords
- Congenital hyperinsulinism
- Neonatal hypoglycemia
- Persistent hyperinsulinemic hypoglycemia of infancy
ASJC Scopus subject areas
- Endocrinology
- Pediatrics, Perinatology, and Child Health
Cite this
Congenital hyperinsulinism in an infant caused by a macroscopic insulin-producing lesion. / Bremer, Andrew A.; Nobuhara, Kerilyn K.; Gitelman, Stephen E.
In: Journal of Pediatric Endocrinology and Metabolism, Vol. 20, No. 3, 03.2007, p. 437-440.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Congenital hyperinsulinism in an infant caused by a macroscopic insulin-producing lesion
AU - Bremer, Andrew A.
AU - Nobuhara, Kerilyn K.
AU - Gitelman, Stephen E.
PY - 2007/3
Y1 - 2007/3
N2 - Congenital hyperinsulinism is the most common cause of persistent neonatal hypoglycemia. Severe congenital hyperinsulinism is most often due to inactivating mutations in either the ABCC8 or KCNJ11 genes, which encode the SUR1 and Kir6.2 proteins, respectively - the two components of the ATP-sensitive K+ (KATP) channel; neonatal hypoglycemia due to macroscopic insulin-producing pancreatic lesions or adenomas are extremely rare. KATP channel hyperinsulinism is classified as diffuse or focal, the latter being associated with paternally-derived mutations of ABCC8 or KCNJ11 and somatic loss of heterozygosity of the maternal alleles. KATP channelopathies usually produce microscopic intra-pancreatic lesions and are typically unresponsive to drug therapy, requiring >95% pancreatectomy for diffuse disease and occasionally more limited pancreatic resection for focal disease; macroscopic pancreatic lesions and adenomas are focally excised. We describe a 1 month-old infant with severe congenital hyperinsulinism who had a macroscopic insulin-producing pancreatic lesion successfully treated with focal lesion enucleation.
AB - Congenital hyperinsulinism is the most common cause of persistent neonatal hypoglycemia. Severe congenital hyperinsulinism is most often due to inactivating mutations in either the ABCC8 or KCNJ11 genes, which encode the SUR1 and Kir6.2 proteins, respectively - the two components of the ATP-sensitive K+ (KATP) channel; neonatal hypoglycemia due to macroscopic insulin-producing pancreatic lesions or adenomas are extremely rare. KATP channel hyperinsulinism is classified as diffuse or focal, the latter being associated with paternally-derived mutations of ABCC8 or KCNJ11 and somatic loss of heterozygosity of the maternal alleles. KATP channelopathies usually produce microscopic intra-pancreatic lesions and are typically unresponsive to drug therapy, requiring >95% pancreatectomy for diffuse disease and occasionally more limited pancreatic resection for focal disease; macroscopic pancreatic lesions and adenomas are focally excised. We describe a 1 month-old infant with severe congenital hyperinsulinism who had a macroscopic insulin-producing pancreatic lesion successfully treated with focal lesion enucleation.
KW - Congenital hyperinsulinism
KW - Neonatal hypoglycemia
KW - Persistent hyperinsulinemic hypoglycemia of infancy
UR - http://www.scopus.com/inward/record.url?scp=34248575390&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=34248575390&partnerID=8YFLogxK
M3 - Article
C2 - 17451083
AN - SCOPUS:34248575390
VL - 20
SP - 437
EP - 440
JO - Journal of Pediatric Endocrinology and Metabolism
JF - Journal of Pediatric Endocrinology and Metabolism
SN - 0334-018X
IS - 3
ER -