November 12, 2014
Notes: Tauchi, Ryoji
Eur J Orthop Surg Traumatol. 2014 Jul;24 Suppl 1:S305-9. doi: 10.1007/s00590-013-1390-z. Epub 2013 Dec 8.
Author Address: Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 4668550, Japan.
Reference Type: Journal Article
Record Number: 4794Author: Terlizzi, V., De Gregorio, F., Sepe, A., Amato, N., Arduino, C., Casale, A., Majo, F., Tomaiuolo, R., Castaldo, G. and Raia, V.
Title: Brand new SPINK1 and CFTR mutations in a child with acute recurrent pancreatitis: a case report
Journal: Minerva Pediatr
Short Title: Brand new SPINK1 and CFTR mutations in a child with acute recurrent pancreatitis: a case report
Alternate Journal: Minerva pediatrica
ISSN: 0026-4946 (Print)
Accession Number: 24217635
Keywords: Acute Disease
Cystic Fibrosis Transmembrane Conductance Regulator/*genetics
Abstract: We report a case of a 2,5 years old female, referred to our center for pancreatitis. Medical investigation revealed history of acute recurrent pancreatitis (ARP) since 1 year of age. Family history was negative for pancreatitis. Abdominal ultrasonography and magnetic resonance excluded both biliary tract stenosis and anatomic abnormalities. Calcium metabolic disorders, viral and bacterial infections were ruled out. Molecular sequencing of CFTR revealed heterozygosis for the mutation S1235R, a CFTR-related disorders associated mutation. Fecal elastase-1 (E1) was 529 mug/gr feces (normal value 200-500 mug/gr feces). No mutation of PRSS1 gene was detected but heterozygosity for p.Lys41Asn (c.123G>C), a new mutation of SPINK1 gene, was revealed. We speculate that the association of both SPINK1 and CFTR gene mutations may be responsible of ARP in our patient. Further studies need to better elucidate the role of genetic factors in ARP, as well as the influence of environmental factors.