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Hereditary pancreatitis in childhood: course of disease and complications
Regina Prommer1, Melanie Kienbauer1, Simon Kargl2
1Department of Gastroenterology and Hepatology, Ordensklinikum Linz-Hospital of the Sisters of Charity, Linz, Austria.
Insights
Hereditary pancreatitis in children is rare, often linked to PRSS1/SPINK1 mutations. Effective pain management and long-term surveillance are crucial for quality of life and cancer prevention.
Area of Science:
- Gastroenterology
- Genetics
- Pediatrics
Background:
- Hereditary pancreatitis presents challenges in pediatric patients, requiring consideration of pain management, child development, and adult cancer risks.
- Genetic factors like PRSS1 and SPINK1 mutations are implicated in hereditary pancreatitis with early symptom onset.
Purpose of the Study:
- To analyze the clinical course, treatment strategies, and long-term outcomes of hereditary pancreatitis in a pediatric cohort.
- To evaluate the effectiveness of pain management and its impact on quality of life in young patients with hereditary pancreatitis.
Main Methods:
- Retrospective analysis of 11 pediatric patients (<16 years) with hereditary pancreatitis.
- Investigation of genetic factors including PRSS1, SPINK1, and CFTR genes.
- Assessment of prognosis, treatment success, and quality of life using standardized scores and questionnaires.
Main Results:
- Mean age of symptom onset was 7.5 years, with PRSS1 and SPINK1 mutations each found in 36.4% of patients.
- Obstructive pancreatitis occurred in 90.9%, with 72.7% undergoing stenting and 18.2% requiring surgery.
- Despite complications, patients reported no pain and a high quality of life (mean KIDSCREEN-T score 66.9).
Conclusions:
- Genetically determined chronic pancreatitis in children necessitates lifelong multidisciplinary care, from pain control to cancer surveillance.
- The step-up approach is effective for pain management in pediatric hereditary pancreatitis.
- Establishing a national registry is recommended to improve long-term patient care and facilitate research.
Background:
Hereditary pancreatitis is rare. Pain therapy for juvenile symptom onset, child development and the risk of pancreatic carcinoma in adulthood must be considered.
Patients, Material And Methods:
Data from a cohort of 11 patients with disease onset in childhood (< 16 years) were analyzed retrospectively. The gene encoding cationic trypsinogen (PRSS1), serine protease inhibitor Kazal type 1 (SPINK1) and cystic fibrosis transmembrane conductance regulator (CFTR) genes were investigated as genetic factors. Treatment concept and complications were registered. Prognosis, treatment success and quality of life were objectified using the chronic pancreatitis prognosis score and a standardized questionnaire (KIDSCREEN-10 index).
Results:
The mean age of symptom onset was 7.5 ±4.2 years. The PRSS1 and SPINK1 mutations each occurred with 36.4%, 3 patients had a pancreas divisum and 2 a long common channel. The course of pancreatitis was obstructive in 90.9%. Exocrine pancreatic insufficiency occurred in seven patients so far (mean age 12.5 years). Stenting was performed in 72.7% and 18.2% needed pancreatic surgery. Currently the chronic prognosis score is on average 7.5 points, pain on numerical rating scale 0 (no pain). The mean KIDSCREEN‑T score of 66.9 confirms a very good quality of life.
Conclusion:
Patients with genetically caused chronic pancreatitis are rare. Their care ranges from pain therapy in childhood and adolescence to questions concerning family planning and pancreatic cancer prevention from mid-adulthood onward. The disease is challenging for the interdisciplinary cooperation. We found the step-up strategy to be a good option for pain therapy. A national registry monitored by scientific societies with active recruitment for screening examinations will further improve and ensure care in the long term.
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