Table 6.

Endocrine channelopathies.

Disease	Gene (protein)	Pharmacotherapy	Pharmacological perspectives
Familial congenital hyperinsulinism	KCNJ11 (Kir6.2) ABCC8 (SUR1)	Diazoxide, a hyperglycaemic drug that opens KATP channels, and somatostatin analogs reduce insulin release in congenital hyperinsulinism
Neonatal diabetes mellitus and DEND syndrome	KCNJ11 (Kir6.2) ABCC8 (SUR1)	Insulin and glibenclamide, a hypoglycaemic drug that blocks KATP channels, increase insulin levels in neonatal diabetes mellitus
Osteopetrosis	CLCN7 (ClC-7) OSTM1 (ClC-7 accessory subunit Ostm1)	Therapy aims at increasing bone resorption: – Hematopoietic stem cell transplantation – Calcitriol and interferon γ – Corticosteroids	Development of selective compounds able to open/activate ClC-7 or to slow the accelerated activation of some ClC-7 mutants