Bennati Giada, Cirino Mario, Benericetti Giulia, Maximova Natalia, Zanier Monica, Pigato Federico, Parzianello Anna, Maestro Alessandra, Barbi Egidio, Zanon Davide
Department of Pharmacy and Clinical Pharmacology, Institute for Maternal and Child Health-IRCCS Burlo Garofolo, 34137 Trieste, Italy.
Department of Pediatrics, Pediatrics, Bone Marrow Transplant Unit, Institute for Maternal and Child Health-IRCCS Burlo Garofolo, 34137 Trieste, Italy.
Pharmaceuticals (Basel). 2023 May 24;16(6):785. doi: 10.3390/ph16060785.
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder affecting <1/1,000,000 people. It is caused by mutations in the CLDN16 (FHHNC Type 1) or CLDN19 (FHHNC Type 2) genes, which are located on Chromosomes 3q27 and 1p34.2, respectively. There are no drug therapies for this condition. Although magnesium salts represent an important class of compounds and exhibit various therapeutic actions as a supplement for magnesium deficiency in FHHNC, various formulations on the market have different bioavailability. We report the case of a patient with FHNNC first treated, in our Pediatric Institute, with high doses of magnesium pidolate and magnesium and potassium citrate. The patient began to neglect this therapy after experiencing frequent daily episodes of diarrhoea. Our pharmacy received a request for an alternative magnesium supplement that would better comply by ensuring a good magnesium intake which will result in adequate blood magnesium levels. In response, we developed a galenic compound in the form of effervescent magnesium. Here, we report on the promise of this formulation not only for better compliance than pidolate, but also for better bioavailability.
家族性低镁血症伴高钙尿症和肾钙质沉着症（FHHNC）是一种罕见的常染色体隐性疾病，发病率低于百万分之一。它是由分别位于3号染色体q27和1号染色体p34.2上的CLDN16基因（FHHNC 1型）或CLDN19基因（FHHNC 2型）突变引起的。这种病症尚无药物疗法。尽管镁盐是一类重要的化合物，作为FHHNC中镁缺乏的补充剂具有多种治疗作用，但市场上的各种制剂生物利用度不同。我们报告了一名FHNNC患者的病例，该患者在我们的儿科研究所首先接受了高剂量的匹多酸镁以及镁和枸橼酸钾治疗。该患者在每天频繁出现腹泻后开始忽视这种治疗。我们的药房收到了一份关于替代镁补充剂的请求，该补充剂通过确保良好的镁摄入量以达到足够的血镁水平，从而更好地符合治疗要求。作为回应，我们开发了一种泡腾镁形式的盖仑制剂。在此，我们报告这种制剂不仅有望比匹多酸盐具有更好的顺应性，而且具有更好的生物利用度。
