Unidade de Endocrinologia Pediátrica; Hospital Dona Estefânia; Área da Mulher, Criança e Adolescente; Centro Hospitalar Universitário de Lisboa Central.
- Reunião nacional XLVII Conferências de Genética Doutor Jacinto Magalhães, Porto (comunicação oral)
Abstract:
Introduction: Congenital hyperinsulinism (CH) is the most frequent cause of persistent and severe hypoglycaemia in the newborn. Clinical presentation and response to therapy may vary depending on the underlying pathology. To avoid pancreatic surgery, optimizing medical treatment may be defying.
Case report: Here we present three cases of CH, first suspected when severe hypoglycaemia presented with high serum insulin levels, two immediately after birth and one at 8 months of age. Inborn glycosylation defects were excluded. Polymerase chain reaction to detect mutations in ABCC8 and KCNJ11 genes was performed in all, but in only one patient two novel heterozygous mutations on KCNJ11 gene were identified (c. 403G>T, p. [Gly135Trp]; c.776A>G, p.[His259Arg]). Next generation sequencing was performed in the other cases. Insufficient response to diazoxide was observed in two (including the patient with KCNJ11 mutations), and therefore octeotride, later replaced by lanreotide, was initiated. On day 10 of diazoxide, one patient developed severe asymptomatic thrombocytopenia and had to switch to lanreotide. Still, recurrent hypoglycaemia is observed. No functional imaging (DOPA PET/CT) was performed. Nowadays, the younger patient presents a mild hypotonia and only one has dysmorphic features.
Discussion: These cases illustrate the challenges associated with CH management, to avoid extensive surgery with predictable morbidity. Regarding this option, DOPA-PET scan can be useful to define a diffuse or local lesion, thus improving accuracy of prognosis and finally surgical cure. Successful cases treated with sirolimus have been reported, preventing surgery.
Palavras Chave: hiperinsulinismo, hipoglicémia