Brand new SPINK1 and CFTR mutations in a child with acute recurrent pancreatitis: a case report.
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.
Department of Pediatrics University of Naples Federico II, Naples, Italy - terlizzivito@libero.it.
V
V
Terlizzi
F
F
De Gregorio
A
A
Sepe
N
N
Amato
C
C
Arduino
A
A
Casale
F
F
Majo
R
R
Tomaiuolo
G
G
Castaldo
V
V
Raia
D000208:Acute Disease; D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D010195:Pancreatitis / Q000235:genetics*; D012008:Recurrence; D014359:Trypsin Inhibitor, Kazal Pancreatic
D002352:Carrier Proteins; C486642:SPINK1 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic