TY - JOUR
T1 - Sirolimus therapy in congenital hyperinsulinism
T2 - A successful experience beyond infancy
AU - Minute, Marta
AU - Patti, Giuseppa
AU - Tornese, Gianluca
AU - Faleschini, Elena
AU - Zuiani, Chiara
AU - Ventura, Alessandro
PY - 2015/11/1
Y1 - 2015/11/1
N2 - Congenital hyperinsulinism (CHI) due to diffuse involvement of the pancreas is a challenging and severe illness in children. Its treatment is based on chronic therapy with diazoxide and/or octreotide, followed by partial pancreatectomy, which is often not resolutive. Sirolimus, a mammalian target of rapamycin inhibitor, was reported to be effective in treating CHI in infants. We report here the case of an 8-year-old boy affected by a severe form of CHI due to a biallelic heterozygous ABCC8 mutation who responded to sirolimus with a dramatic improvement in his glucose blood level regulation and quality of life, with no serious adverse events after 6 months of follow-up. To the best of our knowledge, this is the first report of a successful intervention in an older child. It provides a promising basis for further studies comparing sirolimus with other treatments, particularly in older children.
AB - Congenital hyperinsulinism (CHI) due to diffuse involvement of the pancreas is a challenging and severe illness in children. Its treatment is based on chronic therapy with diazoxide and/or octreotide, followed by partial pancreatectomy, which is often not resolutive. Sirolimus, a mammalian target of rapamycin inhibitor, was reported to be effective in treating CHI in infants. We report here the case of an 8-year-old boy affected by a severe form of CHI due to a biallelic heterozygous ABCC8 mutation who responded to sirolimus with a dramatic improvement in his glucose blood level regulation and quality of life, with no serious adverse events after 6 months of follow-up. To the best of our knowledge, this is the first report of a successful intervention in an older child. It provides a promising basis for further studies comparing sirolimus with other treatments, particularly in older children.
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U2 - 10.1542/peds.2015-1132
DO - 10.1542/peds.2015-1132
M3 - Article
C2 - 26504125
AN - SCOPUS:84947281512
VL - 136
SP - e1373-e1376
JO - Pediatrics
JF - Pediatrics
SN - 0031-4005
IS - 5
ER -