Case Report
Volume 10 Issue 7 - 2021
Gross Duplication and Uncertain Significance: First Case Report of Hereditary Pancreatitis in a Female Ecuadorian Child
Miguel Hernández Cedeño1* and Alexandra Salvador de Avila2
1Ministerio de Salud Pública, Piñas, Ecuador
2Pediatric Gastroenterology, Guayaquil, Ecuador
*Corresponding Author: Miguel Hernández Cedeño, Ministerio de Salud Pública, Piñas, Ecuador.
Received: June 03, 2021; Published: June 17, 2021




Abstract

Hereditary pancreatitis is a type of chronic pancreatitis which is a rare autosomal dominant genetic disease. In Latin America just Venezuela, Brazil, and Chile reported cases of hereditary pancreatitis. The lack of data probably makes wrong the diagnosis in some patients. The aim of these study is to shown the presentation of the disease, family history related with chronic pancreatitis and diagnosis test. We reported a 9-year-old female patient with recurrent severe abdominal pain that begins at 8 years 8 month of age. She went through several hospitalizations [13], different laboratories test and many interventions such abdominal ultrasound, abdominal tomography, cholangioresonace and others. We made a correlation between the levels of amylase and lipase in every hospitalization. The genetic test performed shown a gross duplication of the genomic region encompassing the full coding sequence of the PRSS1 and two variants of uncertain significance PRSS1, Exon 3, c.389C.>T, (p. Thr130Ile), heterozygous; and PRSS1, Exon 3, c.398C>G (p. Pro133Arg), heterozygous are on the same chromosome (Ch37).

Conclusion: This rare case of variant PRSS-1 mutation seen in this patient may explain the expressivity varied on the severity of the disease, the huge number of hospitalization and all the procedure that this patient had experimented. This case report is important to compare similar cases around the world, and should be the bases to understand the behavior, the beginning and the expression of the disease.

Keywords: Hereditary Pancreatitis; Chronic Pancreatitis; Genetic Mutations

References

  1. Oracz G., et al. “The clinical course of hereditary pancreatitis in children e A comprehensive analysis of 41 cases”. Pancreatology (2016).
  2. Peña., et al. “Pancreatitis en el niño”. In: Junta Directiva de la SEGHNP, editor. Protocolo diagnóstico y tratamiento de gastroenterología y nutrición pediátrica. 2nd Ergón S.A (2010): 135-142.
  3. Uc A and Husain S. “Pancreatitis in children”. Gastroenterology (2019): 1-10.
  4. Protease, Serine, 1; PRSS1(Internet). Carol, editor (2016).
  5. Genetic Home Reference. NIH, U.S. National Library of Medicine. PRSS1 gene (2020).
  6. Aliye Uc., et al. “INternational Study Group of Pediatric Pancreatitis: In Search for a CuRE Cohort Study”. Pancreas Journal 4710 (2018).
  7. Soma kumar., et al. “Risk Factors Associated With Pediatric Acute Recurrent and Chronic Pancreatitis”. JAMA Pediatrics (2016).
  8. , et al. “Low Penetrance Pancreatitis Phenotype in a Venezuelan Kindred with a PRSS1 R122H Mutation. Case report”. JOP. Journal of the Pancreas 14.2.
  9. , et al. “Hereditary Pancreatitis Associated With the N29T Mutation of the PRSS1 Gene in a Brazilian Family: A Case-Control Study”. Medicine 94.37 (2015): 1508.
  10. Siegel S., et al. “Hereditary chronic pancreatitis. Report of a case”. NIH Revista Médica de Chile5 (1995): 542-545.
  11. Dominguez J. “Chronic pancreatitis. Elsevier. Jornada de Actualización en Gastroenterología Aplicada”. Páginas1 (2011): 76-78.
  12. Ramos LR., et al. “Inflammatory Bowel Disease and Pancreatitis: A Review”. Journal of Crohn’s and Colitis1 (2015): 95-104.
  13. , et al. “Hereditary pancreatitis caused by triplication of the trypsinogen locus”. Nature Genetics 38.12 (2006): 1372-1374.
  14. , et al. “Causal Evaluation of Acute Recurrent and Chronic Pancreatitis in Children: Consensus From the INSPPIRE Group”. Journal of Pediatric Gastroenterology and Nutrition 64 (2017): 95-103.
  15. , et al. “Morphological and functional evaluation of chronic pancreatitis with magnetic resonance imaging”. World Journal of Gastroenterology 19.42 (2013): 7241-7246.
  16. Kozen K., et al. “Long term follow up of young patients with chronic hereditary or idiopathic pancreatitis”. Mayo Clinic Proceedings 68 (1993): 449-453.
  17. , et al. “Dutch patients with hereditary pancreatitis; high mutation frequency, relatively little pain: National Institutes of Health 153 (2009): A324.
  18. , et al. “Elastase-1 vs trypsin, lipase and amylase serum levels in pancreatic”. International Journal of Pancreatology National Institutes of Health 2 (1987): 361370.
  19. , et al. “Hereditary pancreatitis for the endoscopist”. Therapeutic Advances in Gastroenterology 6.2 (2013): 169-179.
  20. , et al. “Recent advances in the diagnosis and management of chronic pancreatitis”. The Korean Journal of Internal Medicine 34.2 (2019): 242-260.
  21. , et al. “Fecal elastase I and its use in diagnosis of chronic pancreatitis”. National Institutes of Health 145.6 (2006):480-483.
  22. Celeste A. “Hereditary pancreatitis in the united states: survival rates of pancreatic cancer”. The American Journal of Gastroenterology (2018).
  23. National Institutes of Health (2021).
  24. NIH (2021).
  25. Szmola R and Sahin-Tóth M. “Uncertainties in the classification of human cationic trypsinogen”. Journal of Medical Genetics 47 (2010): 348e350.
  26. , et al. “Trypsinogen Copy Number Mutations in Patients With Idiopathic Chronic Pancreatitis”. Clinical Gastroenterology and Hepatology 6.1 (2008): 82-88.
Citation: Miguel Hernández Cedeño and Alexandra Salvador de Avila. “Gross Duplication and Uncertain Significance: First Case Report of Hereditary Pancreatitis in a Female Ecuadorian Child”. EC Paediatrics 10.7 (2021): 52-58.

PubMed Indexed Article


EC Pharmacology and Toxicology
LC-UV-MS and MS/MS Characterize Glutathione Reactivity with Different Isomers (2,2' and 2,4' vs. 4,4') of Methylene Diphenyl-Diisocyanate.

PMID: 31143884 [PubMed]

PMCID: PMC6536005


EC Pharmacology and Toxicology
Alzheimer's Pathogenesis, Metal-Mediated Redox Stress, and Potential Nanotheranostics.

PMID: 31565701 [PubMed]

PMCID: PMC6764777


EC Neurology
Differences in Rate of Cognitive Decline and Caregiver Burden between Alzheimer's Disease and Vascular Dementia: a Retrospective Study.

PMID: 27747317 [PubMed]

PMCID: PMC5065347


EC Pharmacology and Toxicology
Will Blockchain Technology Transform Healthcare and Biomedical Sciences?

PMID: 31460519 [PubMed]

PMCID: PMC6711478


EC Pharmacology and Toxicology
Is it a Prime Time for AI-powered Virtual Drug Screening?

PMID: 30215059 [PubMed]

PMCID: PMC6133253


EC Psychology and Psychiatry
Analysis of Evidence for the Combination of Pro-dopamine Regulator (KB220PAM) and Naltrexone to Prevent Opioid Use Disorder Relapse.

PMID: 30417173 [PubMed]

PMCID: PMC6226033


EC Anaesthesia
Arrest Under Anesthesia - What was the Culprit? A Case Report.

PMID: 30264037 [PubMed]

PMCID: PMC6155992


EC Orthopaedics
Distraction Implantation. A New Technique in Total Joint Arthroplasty and Direct Skeletal Attachment.

PMID: 30198026 [PubMed]

PMCID: PMC6124505


EC Pulmonology and Respiratory Medicine
Prevalence and factors associated with self-reported chronic obstructive pulmonary disease among adults aged 40-79: the National Health and Nutrition Examination Survey (NHANES) 2007-2012.

PMID: 30294723 [PubMed]

PMCID: PMC6169793


EC Dental Science
Important Dental Fiber-Reinforced Composite Molding Compound Breakthroughs

PMID: 29285526 [PubMed]

PMCID: PMC5743211


EC Microbiology
Prevalence of Intestinal Parasites Among HIV Infected and HIV Uninfected Patients Treated at the 1o De Maio Health Centre in Maputo, Mozambique

PMID: 29911204 [PubMed]

PMCID: PMC5999047


EC Microbiology
Macrophages and the Viral Dissemination Super Highway

PMID: 26949751 [PubMed]

PMCID: PMC4774560


EC Microbiology
The Microbiome, Antibiotics, and Health of the Pediatric Population.

PMID: 27390782 [PubMed]

PMCID: PMC4933318


EC Microbiology
Reactive Oxygen Species in HIV Infection

PMID: 28580453 [PubMed]

PMCID: PMC5450819


EC Microbiology
A Review of the CD4 T Cell Contribution to Lung Infection, Inflammation and Repair with a Focus on Wheeze and Asthma in the Pediatric Population

PMID: 26280024 [PubMed]

PMCID: PMC4533840


EC Neurology
Identifying Key Symptoms Differentiating Myalgic Encephalomyelitis and Chronic Fatigue Syndrome from Multiple Sclerosis

PMID: 28066845 [PubMed]

PMCID: PMC5214344


EC Pharmacology and Toxicology
Paradigm Shift is the Normal State of Pharmacology

PMID: 28936490 [PubMed]

PMCID: PMC5604476


EC Neurology
Examining those Meeting IOM Criteria Versus IOM Plus Fibromyalgia

PMID: 28713879 [PubMed]

PMCID: PMC5510658


EC Neurology
Unilateral Frontosphenoid Craniosynostosis: Case Report and a Review of the Literature

PMID: 28133641 [PubMed]

PMCID: PMC5267489


EC Ophthalmology
OCT-Angiography for Non-Invasive Monitoring of Neuronal and Vascular Structure in Mouse Retina: Implication for Characterization of Retinal Neurovascular Coupling

PMID: 29333536 [PubMed]

PMCID: PMC5766278


EC Neurology
Longer Duration of Downslope Treadmill Walking Induces Depression of H-Reflexes Measured during Standing and Walking.

PMID: 31032493 [PubMed]

PMCID: PMC6483108


EC Microbiology
Onchocerciasis in Mozambique: An Unknown Condition for Health Professionals.

PMID: 30957099 [PubMed]

PMCID: PMC6448571


EC Nutrition
Food Insecurity among Households with and without Podoconiosis in East and West Gojjam, Ethiopia.

PMID: 30101228 [PubMed]

PMCID: PMC6086333


EC Ophthalmology
REVIEW. +2 to +3 D. Reading Glasses to Prevent Myopia.

PMID: 31080964 [PubMed]

PMCID: PMC6508883


EC Gynaecology
Biomechanical Mapping of the Female Pelvic Floor: Uterine Prolapse Versus Normal Conditions.

PMID: 31093608 [PubMed]

PMCID: PMC6513001


EC Dental Science
Fiber-Reinforced Composites: A Breakthrough in Practical Clinical Applications with Advanced Wear Resistance for Dental Materials.

PMID: 31552397 [PubMed]

PMCID: PMC6758937


EC Microbiology
Neurocysticercosis in Child Bearing Women: An Overlooked Condition in Mozambique and a Potentially Missed Diagnosis in Women Presenting with Eclampsia.

PMID: 31681909 [PubMed]

PMCID: PMC6824723


EC Microbiology
Molecular Detection of Leptospira spp. in Rodents Trapped in the Mozambique Island City, Nampula Province, Mozambique.

PMID: 31681910 [PubMed]

PMCID: PMC6824726


EC Neurology
Endoplasmic Reticulum-Mitochondrial Cross-Talk in Neurodegenerative and Eye Diseases.

PMID: 31528859 [PubMed]

PMCID: PMC6746603


EC Psychology and Psychiatry
Can Chronic Consumption of Caffeine by Increasing D2/D3 Receptors Offer Benefit to Carriers of the DRD2 A1 Allele in Cocaine Abuse?

PMID: 31276119 [PubMed]

PMCID: PMC6604646


EC Anaesthesia
Real Time Locating Systems and sustainability of Perioperative Efficiency of Anesthesiologists.

PMID: 31406965 [PubMed]

PMCID: PMC6690616


EC Pharmacology and Toxicology
A Pilot STEM Curriculum Designed to Teach High School Students Concepts in Biochemical Engineering and Pharmacology.

PMID: 31517314 [PubMed]

PMCID: PMC6741290


EC Pharmacology and Toxicology
Toxic Mechanisms Underlying Motor Activity Changes Induced by a Mixture of Lead, Arsenic and Manganese.

PMID: 31633124 [PubMed]

PMCID: PMC6800226


EC Neurology
Research Volunteers' Attitudes Toward Chronic Fatigue Syndrome and Myalgic Encephalomyelitis.

PMID: 29662969 [PubMed]

PMCID: PMC5898812


EC Pharmacology and Toxicology
Hyperbaric Oxygen Therapy for Alzheimer's Disease.

PMID: 30215058 [PubMed]

PMCID: PMC6133268


News and Events


July Issue Release

We always feel pleasure to share our updates with you all. Here, notifying you that we have successfully released the July issue of respective journals and the latest articles can be viewed on the current issue pages.

Submission Deadline for upcoming Issue

Ecronicon delightfully welcomes all the authors around the globe for effective collaboration with an article submission for the upcoming issue of respective journals. Submissions are accepted on/before August 09, 2021.

Certificate of Publication

Ecronicon honors with a "Publication Certificate" to the corresponding author by including the names of co-authors as a token of appreciation for publishing the work with our respective journals.

Best Article of the Issue

Editors of respective journals will always be very much interested in electing one Best Article after each issue release. The authors of the selected article will be honored with a "Best Article of the Issue" certificate.

Certifying for Review

Ecronicon certifies the Editors for their first review done towards the assigned article of the respective journals.

Latest Articles

The latest articles will be updated immediately on the articles in press page of the respective journals.

Immediate Assistance

The prime motto of this team is to clarify all the queries without any delay or hesitation to avoid the inconvenience. For immediate assistance on your queries please don't hesitate to drop an email to editor@ecronicon.uk