Sirolimus Therapy in Congenital Hyperinsulinism: A Successful Experience Beyond Infancy.
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.
University of Trieste, Trieste, Italy; and martaminute@gmail.com.
Marta
M
Minute
University of Trieste, Trieste, Italy; and.
Giuseppa
G
Patti
University of Trieste, Trieste, Italy; and Institute for Maternal and Child Health Istituto di Ricerca e Cura a Carattere Scientifico University of Trieste, Department of Pediatrics Burlo Garofolo, Trieste, Italy.
Gianluca
G
Tornese
Institute for Maternal and Child Health Istituto di Ricerca e Cura a Carattere Scientifico University of Trieste, Department of Pediatrics Burlo Garofolo, Trieste, Italy.
Elena
E
Faleschini
University of Trieste, Trieste, Italy; and.
Chiara
C
Zuiani
University of Trieste, Trieste, Italy; and Institute for Maternal and Child Health Istituto di Ricerca e Cura a Carattere Scientifico University of Trieste, Department of Pediatrics Burlo Garofolo, Trieste, Italy.
Alessandro
A
Ventura
D002648:Child; D044903:Congenital Hyperinsulinism / Q000188:drug therapy*; D006801:Humans; D008297:Male; D012074:Remission Induction; D020123:Sirolimus / Q000627:therapeutic use*
D020123:Sirolimus