Cinacalcet sustainedly prevents pancreatitis in a child with a compound heterozygous SPINK1/AP2S1 mutation

被引：6
作者：
Scheers, I [1 ]
Sokal, E. [1 ]
Limaye, N. [2 ]
Denoncin, C. [3 ]
Stephenne, X. [1 ]
Pirson, Y. [4 ]
Godefroid, N. [5 ]
机构：
[1] Catholic Univ Louvain, Clin Univ St Luc, Pediat Gastroenterol Hepatol & Nutr Unit, Brussels, Belgium
[2] Catholic Univ Louvain, de Duve Inst, Genet Autoimmune Dis & Canc, Brussels, Belgium
[3] Clin Sud Luxembourg, Site St Joseph, Pediat Unit, Arlon, Belgium
[4] Catholic Univ Louvain, Clin Univ St Luc, Nephrol Unit, Brussels, Belgium
[5] Catholic Univ Louvain, Clin Univ St Luc, Pediat Nephrol Unit, Brussels, Belgium
来源：
PANCREATOLOGY | 2019年 / 19卷 / 06期
关键词：
Genetic; Pancreatitis; Children; Hypocalciuric hypercalcemia; Cinacalcet; CALCIUM-SENSING-RECEPTOR; FAMILIAL HYPOCALCIURIC HYPERCALCEMIA; ASSOCIATION; ACTIVATION; GENE;
D O I：
10.1016/j.pan.2019.07.045
中图分类号：
R57 [消化系及腹部疾病];
学科分类号：
摘要：
Familial hypocalciuric hypercalcemia is an autosomal dominant genetic disorder characterized by hypercalcemia associated with inappropriate hypocalciuria and normal parathyroid hormone levels. Acute recurrent pancreatitis (ARP) is rare in children. Predisposing factors include hypercalcemia and mutations in the serine protease inhibitor Kazal-type 1 (SPINK1) gene. The disease carries a heavy morbidity and preventive treatment options are scant. Here, we report a child with a novel genetic/metabolic form of ARP associated with compound heterozygous SPINK1/AP2S1 (adaptor protein-2 sigma 1-subunit) mutations, recurrence of which was completely abrogated for 6 years by cinacalcet treatment. (C) 2019 IAP and EPC. Published by Elsevier B.V. All rights reserved.
引用
收藏
页码：801 / 804
页数：4
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