The effectiveness of Sirolimus treatment in two rare disorders with nonketotic hypoinsulinemic hypoglycemia: The role of mTOR pathway

The effectiveness of Sirolimus treatment in two rare disorders with nonketotic hypoinsulinemic hypoglycemia: The role of mTOR pathway J Clin Res Pediatr Endocrinol. 2020 Mar 11;: Authors: Şıklar Z, Çetin T, Çakar N, Berberoğlu M Abstract “Nonketotic-hypoinsulinemic hypoglycemia (NkHH)” is a very rare problem of glucose consumption increase without hyperinsulinism. This disorder has mainly been reported in cases with AKT2 mutation and rarely in cases with PTEN mutation. In cases with PTEN or AKT2 mutation, no effective therapy has been implemented in addition to frequent feeding to counter hypoglycemia. mTOR inhibitor Sirolimus has been used in hyperinsulinemic hypoglycemia that was unresponsive to other medical treatment. In insulin signaling pathway, both AKT2 and PTEN play a role before mTOR. However, the role of Sirolimus on hypoglycemia in AKT2 and PTEN mutations is unknown. Case 1: Six monts old female with AKT2 mutation (c.49G>A (p.E17K) has showed NkHH. Frequent feeding was unsuccesful for treating the hypoglycemia and proptosis has been getting worse. Sirolimus treatment has been started at 3 years of age. Resultantly, blood glucose (BG) levels have been increased to normal levels. Case 2: In a male case with PTEN mutation (p.G132V (c.395G>T), Persistent NkHH has appeared at 16 years of age (fasting BG: 27 mg/dl, fasting insulin1.5 mmol/L, while ketone negative). Sirolimus treatment was started and hypoglycemia...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research