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.
2021
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/13 - ENDOCRINOLOGIA
English
Con Impact Factor ISI
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.
Iafusco, D; Zanfardino, A; Piscopo, A; Casaburo, F; De Nigris, A; Alfiero, S; Russo, G; Arenella, M; Russo, M; Barbetti, F
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/284877
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