Galderisi Alfonso, Kermorvant-Duchemin Elsa, Daruich Alejandra, Bonnard Adeline Alice, Lapillonne Alexandre, Aubelle Marie-Stéphanie, Perrella Bruna, Vial Yoann, Cave Héléne, Berdugo Marianne, Jarreau Pierre-Henri, Polak Michel, Beltrand Jacques
Hôpital Universitaire Necker-Enfants Malades, Service d'endocrinologie Gynécologie et Diabétologie Pédiatrique Hôpital Necker-Enfants Malades Paris France.
Department of Woman and Child's Health University of Padova Padova Italy.
JIMD Rep. 2023 Jan 29;64(2):161-166. doi: 10.1002/jmd2.12358. eCollection 2023 Mar.
Early treatment of neonatal diabetes with sulfonylureas has been proven to produce marked improvements of neurodevelopment, beside the demonstrated efficacy on glycemic control. Several barriers still prevent an early treatment in preterm babies including the limited availability of suitable galenic form of glibenclamide. We adopted oral glibenclamide suspension (Amglidia) for the early treatment of neonatal diabetes due to an homozygous variant of KCNJ11 gene c.10C>T [p.Arg4Cys] in an extremely preterm infant born at 26 + 2 weeks' of gestational age. After ~6 weeks of insulin treatment with a low glucose intake (4.5 g/kg/day), the infant was switched to Amglidia 6 mg/ml diluted in maternal milk, via nasogastric tube (0.2 mg/kg/day) progressively reduced to 0.01 mg/kg/day (after ~3 months). While on glibenclamide, the patient exhibited a mean daily growth of 11 g/kg/day. The treatment was suspended at month 6 of birth (weight 4.9 kg [5th-10th centile], M3 of c.a.) for normalization of glucose profile. During the treatment, the patient exhibited a stable glucose profile within the range of 4-8 mmol/L in the absence of hypo or hyperglycemic episodes with 2-3 blood glucose tests per day. The patient was diagnosed with retinopathy of prematurity Stade II in Zone II without plus disease at 32 weeks, with progressive regression and complete retinal vascularization at 6 months of birth. Amglidia could be regarded as the specific treatment for neonatal diabetes even in preterm babies due to its beneficial effect on the metabolic and neurodevelopmental side.
除了已证实的对血糖控制的疗效外，用磺脲类药物早期治疗新生儿糖尿病已被证明能显著改善神经发育。仍有几个障碍阻碍对早产儿进行早期治疗，包括合适剂型的格列本脲供应有限。我们采用口服格列本脲混悬液（Amglidia）对一名孕26⁺²周出生的极早产儿进行新生儿糖尿病的早期治疗，该患儿因KCNJ11基因c.10C>T [p.Arg4Cys]纯合变异致病。在用低葡萄糖摄入量（4.5 g/kg/天）进行胰岛素治疗约6周后，该婴儿改用经鼻胃管给予稀释于母乳中的6 mg/ml Amglidia（0.2 mg/kg/天），并逐渐减至0.01 mg/kg/天（约3个月后）。在使用格列本脲期间，该患者平均每日体重增长11 g/kg/天。在出生后第6个月（体重4.9 kg [第5 - 10百分位]，校正年龄约为3个月），因血糖谱正常化而暂停治疗。在治疗期间，患者血糖谱稳定在4 - 8 mmol/L范围内，每天进行2 - 3次血糖检测，未出现低血糖或高血糖发作。该患者在32周时被诊断为早产儿视网膜病变II期，位于II区，无Plus病，在出生6个月时病情逐渐消退，视网膜完全血管化。由于Amglidia对代谢和神经发育方面具有有益作用，即使对于早产儿，它也可被视为新生儿糖尿病的特效治疗药物。
