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MINERVA PEDIATRICA

A Journal on Pediatrics, Neonatology, Adolescent Medicine,
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Minerva Pediatrica 2013 December;65(6):669-72

language: English

Brand new SPINK1 and CFTR mutations in a child with acute recurrent pancreatitis: a case report

Terlizzi V. 1, De Gregorio F. 1, Sepe A. 1, Amato N. 1, Arduino C. 2, Casale A. 1, Majo F. 1, Tomaiuolo R. 3, Castaldo G. 3, Raia V. 1

1 Department of Pediatrics University of Naples Federico II, Naples, Italy;
2 S.C.D.U. Medical Genetics A.O.U. San Giovanni Battista, Turin, Italy;
3 CEINGE Advanced Biotecnology University of Naples Federico II, Naples, Italy


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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 μg/gr feces (normal value 200-500 μg/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.

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