• Clinical and Experimental Pediatrics
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• v.49 no.10
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• pp.1111-1115
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• 2006

Hereditary pancreatitis is an autosomal dominant disease characterized by recurrent episodes of pancreatitis, often beginning in childhood, with a positive family history involving at least two other affected family members with no known other precipitating factors. Most forms of hereditary pancreatitis are caused by one of two common mutations, i.e., R122H in exon 3 and N29I in exon 2 of the cationic trypsinogen (CT) (PRSS1) gene, located on chromosome 7. The authors describe the case of a 15-year-old boy who had suffered from recurrent attacks of pancreatitis since age three. His mother and grandmother had chronic pancreatitis and diabetes mellitus. Mutation analysis was performed on the family due to the suspicion of hereditary pancreatitis. The CT gene was analyzed in DNA samples extracted from the peripheral blood of three family members, the mother, the proband, and the proband's sister. Two members of the family, the mother and the proband, were found to have a N29I mutation in the CT gene. The authors document the first family with hereditary pancreatitis associated with the N29I mutation in Korea.

• Advances in pediatric surgery
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• v.12 no.1
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• pp.24-31
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• 2006

Hereditary pancreatitis (HP) appears as an autosomal dominant trait. If the patient has (1) more than 2 affected relatives in different generations and (2) no known etiological factors such as alcohol or gallstones, or has R122H or N29I mutation in the cationic trypsinogen (CT) gene, the diagnosis of HP can be applied. Risk of pancreatic cancer is estimated to be 53-fold higher than in a general population after the age of 50 years. We report a kindredof HP, involving three of its family together; two siblings (14 years old, 13 years old) and cousin (26 years old). The patient had complicating chronic pancreatitis and pancreatic stone, and was treated with amodified Puestow-Gillesby procedure. Her sisters showed chronic pancreatitis. Her cousin underwent a drainage procedure of the pancreatic duct for chronic pancreatitis during the high school period. All the three members showed the R122H mutation of the CT gene.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.22 no.6
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• pp.601-607
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• 2019

Pancreaticopleural fistula (PPF) a fistulous connection between the pancreas and pleural space due to prolonged chronic pancreatitis (CP). PPF is a very rare complication which presents in 0.4% of chronic pancreatitis cases, especially among children. We report a case involving a 3-year-old boy who presented with pleural effusion caused by a PPF, a complication of hereditary pancreatitis, which was, for the first time in Korea, successfully managed with endoscopic treatment. Chest radiography and computed tomography showed massive pleural effusion. Percutaneous catheter drainage was performed. High amylase levels were observed in the pleural fluid and serum, suggesting PPF. The patient was managed with bowel rest and octreotide infusion. Endoscopic retrograde cholangiopancreatography revealed CP, and pleural effusion was successfully managed with stent placement. PRSS1 genetic screening revealed R122H mutation.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.22 no.4
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• pp.392-399
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• 2019

Wilson disease a rare autosomal recessive inherited disorder of copper metabolism, is characterized by excessive deposition of copper in the liver, brain, and other tissues. Wilson disease is often fatal if it is not recognized early and treated when it is symptomatic. Gitelman syndrome is also an autosomal recessive kidney disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. Hereditary sensory autonomic neuropathy type IV (HSAN-IV), a very rare condition that presents in infancy, is characterized by anhidrosis, absence of pain sensation, and self-mutilation. It is usually accompanied by developmental delay and mental retardation. We report a case of Wilson disease manifested as fulminant hepatitis, acute pancreatitis, and acute kidney injury in a 15-year-old boy comorbid with HSAN-IV and Gitelman syndrome. Such concurrence of three genetic diseases is an extremely rare case.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.20 no.1
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• pp.61-64
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• 2017

Recurrent acute pancreatic attacks is a rare clinical condition (2-5% of all acute pancreatis) in children and is mainly idiopathic in most cases. Sometimes it may be associated with congenital anomalies, metabolic diseases or hereditary conditions. Isovaleric acidemia (IVA) is a rare autosomal recessive amino acid metabolism disorder associated with isovaleryl coenzyme A dehydrogenase deficiency presenting the clinical findings such metabolic acidosis with increased anion gap, hyperammonemia, ketonemia, hypoglycemia, "the odor of sweaty feet," abdominal pain, vomiting, feeding intolerance, shock and coma. Recurrent acute pancreatitis associated with IVA have been rarely reported. Herein; we report a child who admitted with recurrent acute pancreatic attacks and had the final diagnosis of IVA. Mutation analysis revealed a novel homozygous mutation of (p.E117K [c.349G>A]) in the IVA gene. Organic acidemias must kept in mind in the differential diagnosis of recurrent acute pancreatic attacks in children.

• Journal of Digestive Cancer Reports
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• v.7 no.1
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• pp.18-21
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• 2019

Serine protease inhibitor Kazal-type 1 (SPINK1) is a gene expressed from pancreatic acinar cell which its mutation is known to be associated with chronic pancreatitis (CP) and pancreatic cancer. We report a case of a 47-years-old female with nausea and weight loss with yellow discoloration of skin. Initial imaging and endoscopic study led us to an impression of chronic pancreatitis with pancreatic cancer with common bile-duct dilation. Biopsy result was confirmed with pancreatic adenocarcinoma and additional imaging revealed lymph node and bone metastasis. Our genetic analysis revealed 194+2T>C mutation of SPINK1. Biliary obstruction was successfully decompressed by stent insertion and underwent chemotherapy and radiotherapy. Although there is accumulating evidence of association between SPINK1 mutation and CP, the relationship between SPINK1 mutation and pancreatic cancer in CP patient is an emerging concept. Genetic analysis should be considered in patients with young age especially when diagnosed with both CP and pancreatic cancer.