RESUMEN
BACKGROUND: Congenital hyperinsulinism (CHI) is a major cause of persistent hypoglycemia and brain damage. Therapeutic strategies to avoid near total pancreatectomy in patients who are unresponsive to maximum doses of diazoxide and octreotide remain to be identified, although sirolimus, a mammalian target of rapamycin (mTOR) inhibitor, has been used successfully to treat diffuse type CHI. CASE PRESENTATION: We used sirolimus to treat three infants with diffuse CHI. Diagnosis was confirmed clinically, biochemically and by genetic testing. Homozygous mutations in KCNJ11, ABCC8 and KCNJ11 were identified in infants 1, 2 and 3, respectively. Each infant had received the therapy for at least 2 months with close monitoring of glycemic response, serum insulin and C-peptide. None of the infants responded to the therapy. CONCLUSIONS: We conclude that sirolimus is less effective in the treatment of diffuse CHI in patients with severe mutations in the homozygous state compared with those with the mutations in the heterozygous.
Asunto(s)
Hiperinsulinismo Congénito/tratamiento farmacológico , Mutación , Sirolimus/uso terapéutico , Glucemia , Hiperinsulinismo Congénito/sangre , Hiperinsulinismo Congénito/genética , Femenino , Humanos , Lactante , Masculino , Canales de Potasio de Rectificación Interna/genética , Receptores de Sulfonilureas/genética , Resultado del TratamientoRESUMEN
AIM: To measure the health related quality of life (HRQoL) among Saudi Arabian adolescents with type 1 diabetes mellitus (T1DM) and the impact the disease has on the family. METHODOLOGY: A cross sectional study was conducted involving 315 adolescent patients (12-18 years) and their caregivers. Adolescent HRQoL was assessed by adolescents and their parents completing the Peds QL™ Diabetes Module 3.0. Family impact was assessed by the parent completing the Peds QL™ Family Impact module (FIM). RESULTS: Adolescents reported a cumulative mean HRQoL score of 64.8, while parents reported significantly lower scores of 60.3 (p=0.003). The lowest scores reported by both adolescents and parents were for "Worry". Female gender and late adolescent age were predictors of lower HRQoL for adolescents with T1DM. The FIM showed low scores for "Emotional functioning" (59.8) and high scores for "Family relationships" (80.9). CONCLUSION: These findings emphasize the importance of an interdisciplinary, biopsychosocial and family centered care approach to adolescents with a chronic disease. Future work could assess the effectiveness of direct care involvement of adolescent and mental health experts in improving the HRQoL for this population.