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

I Scheers1, E Sokal1, N Limaye2

  • 1Pediatric gastroenterology, Hepatology and nutrition Unit, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.

Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [Et Al.]
|August 9, 2019
PubMed

Insights

Familial hypocalciuric hypercalcemia in a child was linked to novel SPINK1/AP2S1 gene mutations. Cinacalcet treatment effectively prevented acute recurrent pancreatitis recurrence for six years.

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Familial hypocalciuric hypercalcemia (FHH) is a genetic disorder causing high calcium levels with low urinary calcium excretion.
  • Acute recurrent pancreatitis (ARP) in children is uncommon, with hypercalcemia and SPINK1 gene mutations being potential risk factors.

Observation:

  • A pediatric case presented with a rare genetic/metabolic form of ARP.
  • This patient had compound heterozygous mutations in both the SPINK1 and AP2S1 genes.

Findings:

  • The study identified a novel combination of SPINK1 and AP2S1 mutations contributing to ARP.
  • Treatment with cinacalcet completely prevented ARP recurrence in this child for six years.

Implications:

  • This case highlights a new genetic basis for ARP in children.
  • Cinacalcet demonstrates potential as a preventive therapy for ARP in specific genetic contexts.
  • Understanding these genetic links can improve diagnosis and management of pediatric pancreatitis.

Keywords:
ChildrenCinacalcetGeneticHypocalciuric hypercalcemiaPancreatitis

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