To the Editor: Activating mutations in the ATP-regulated K+(KATP)channel genes KCNJ11 and ABCC8 cause neonatal diabetes mellitus (NDM); patients with these mutations may respond to oral sulfonylureas [1, 2]. Recently, we have shown that sulfonylurea therapy in 83 patients with permanent NDM (PNDM) associated with KCNJ11 mutations maintained its full efficacy in 75 patients (93%) over a period of 10 years, while six needed some additional insulin [3]. To date, while non-responders have been described [4] no severe secondary failure has been reported.
Iafusco, D., Zanfardino, A., Piscopo, A., Casaburo, F., De Nigris, A., Alfiero, S., et al. (2021). Case report: coeliac disease as a cause of secondary failure of glyburide therapy in a patient with permanent neonatal diabetes due to KCNJ11/R201C mutation. DIABETOLOGIA, 64(7), 1703-1706.
Case report: coeliac disease as a cause of secondary failure of glyburide therapy in a patient with permanent neonatal diabetes due to KCNJ11/R201C mutation
Barbetti F
2021-01-01
Abstract
To the Editor: Activating mutations in the ATP-regulated K+(KATP)channel genes KCNJ11 and ABCC8 cause neonatal diabetes mellitus (NDM); patients with these mutations may respond to oral sulfonylureas [1, 2]. Recently, we have shown that sulfonylurea therapy in 83 patients with permanent NDM (PNDM) associated with KCNJ11 mutations maintained its full efficacy in 75 patients (93%) over a period of 10 years, while six needed some additional insulin [3]. To date, while non-responders have been described [4] no severe secondary failure has been reported.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
