Autor: |
Габровска, В., Шентова, Р., Хаджийски, П., Байчева, М., Кофинова, Д., Тачева, Г., Kaдъм, A., Пенков, М., Янева, П. |
Zdroj: |
Pediatria; 2021, Vol. 61 Issue 1, p44-48, 5p |
Abstrakt: |
Acute, recurrent acute and chronic pancreatitis are increasingly recognized in childhood. Etiology is different compared with adults, with leading role of obstructive anomalies and medications in acute pancreatitis and genetic association and obstructive anomalies in recurrent and chronic pancreatitis. The genes most commonly associated with pediatric pancreatitis are: cationic trypsinogen (PRSS1), serine protease inhibitor Kazal-type 1 (SPINK1), chymotrypsin C (CTRC), carboxypeptidase A1 (CPA1) and Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Children with these conditions suffer from recurrent or chronic abdominal pain and have diminished quality of life. Treatment options include mainly supportive care with aggressive early fluid administration, pain control and early nutrition. Under future investigation are gene therapy and total pancreatectomy with islet autotransplantation. This case report presents the case of 6-year-old boy with recurrent acute pancreatitis and gene association with two mutations in CFTR and SPINK1 genes. [ABSTRACT FROM AUTHOR] |
Databáze: |
Complementary Index |
Externí odkaz: |
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