Monique H M Derikx

Radboud University Nijmegen, Nymegen, Gelderland, Netherlands

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Publications (9)20.45 Total impact

  • [Show abstract] [Hide abstract]
    ABSTRACT: Several genetic risk factors have been identified for non-alcoholic chronic pancreatitis (NACP). A genome-wide association study reported an association of chronic pancreatitis (CP) with variants in PRSS1-PRSS2 (rs10273639; near the gene encoding cationic trypsinogen) and CLDN2-MORC4 loci (rs7057398 in RIPPLY1 and rs12688220 in MORC4). We aimed to refine these findings in a large European cohort.
    Gut 09/2014; · 10.73 Impact Factor
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    ABSTRACT: Chronic pancreatitis (CP) is an inflammatory disease that in some patients leads to exocrine and endocrine dysfunction. In industrialized countries the most common aetiology is chronic alcohol abuse. Descriptions of associated genetic alterations in alcoholic CP are rare. However, a common PNPLA3 variant (p.I148M) is associated with the development of alcoholic liver cirrhosis (ALC). Since, alcoholic CP and ALC share the same aetiology PNPLA3 variant (p.I148M) possibly influences the development of alcoholic CP. Using melting curve analysis we genotyped the variant in 1510 patients with pancreatitis or liver disease (961 German and Dutch alcoholic CP patients, 414 German patients with idiopathic or hereditary CP, and 135 patients with ALC). In addition, we included in total 2781 healthy controls in the study. The previously published overrepresentation of GG-genotype was replicated in our cohort of ALC (p-value <0.0001, OR 2.3, 95% CI 1.6-3.3). Distributions of genotype and allele frequencies of the p.I148M variant were comparable in patients with alcoholic CP, idiopathic and hereditary CP and in healthy controls. The absence of an association of PNPLA3 p.I148M with alcoholic CP seems not to point to a common pathway in the development of alcoholic CP and alcoholic liver cirrhosis.
    PLoS ONE 01/2012; 7(1):e29433. · 3.53 Impact Factor
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    Monique H M Derikx, Tanya M Bisseling
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    ABSTRACT: Usually, celiac disease has a benign course, though the overall morbidity and mortality have increased. Treatment with a gluten-free diet restores the damaged intestinal mucosa. In rare cases a small bowel adenocarcinoma develops. Unfortunately, the clinical presentation is not always recognized and prognosis is bad. We present a 69-year-old man with a history of dermatitis herpetiformis who presented to our tertiary center for a second opinion for a suspected gastric motility disorder. This diagnosis was based on the combination of upper abdominal pain for over 2 years and repetitive episodes of vomiting. Immediately after referral, celiac disease was diagnosed and a gluten-free diet was started. In the next half year of follow-up, additional anemia and weight loss developed and eventually a small bowel adenocarcinoma was diagnosed. Revision of a small bowel follow-through, which had been performed 2 years earlier, showed that the tube had been positioned just distal from the process. Therefore, this diagnosis had not been made at that time. Unfortunately, curative therapy was not possible and the patient died a few months later. In conclusion, all patients with dermatitis herpetiformis have a gluten-sensitive enteropathy and should be treated with a gluten-free diet. Next to this it is important to notice that patients with celiac disease have an increased risk of developing a small bowel malignancy. Unexplained upper abdominal pain, weight loss and anemia should lead to additional investigations to exclude a small bowel malignancy in these patients. At last, the diagnosis of a small bowel carcinoma is difficult. Together with the radiologist, the optimal techniques for visualization of this malignancy should be considered.
    Case Reports in Gastroenterology 01/2012; 6(1):20-5.
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    ABSTRACT: The Hepatitis delta virus (HDV) is a defect RNA virus that requires the presence of the hepatitis B virus (HBV) for cellular infection. Worldwide, 350 million people are infected with HBV; 5% of these are superinfected with HDV. A chronic superinfection with HDV has a higher morbidity and mortality rate. It is clinically difficult to differentiate between an HBV and an HDV infection. Diagnosis is made via detection of HDV antibodies and HDV-RNA using PCR techniques. The only treatment option is peginterferon-alpha 180 μg subcutaneously once a week for 48 weeks. A 37-year-old man with a Syrian background and a chronic HBV infection presented with high levels of ALT indicating severe hepatitis. The level of detected HBV-DNA-particles was low, however, indicating that the HBV infection alone could not be responsible for the inflammation. Further investigations revealed a superinfection with HDV. The patient was successfully treated with peginterferon-alpha. Severe hepatitis (high ALT level) in combination with a low HBV-DNA-particle level can indicate a HDV superinfection.
    Nederlands tijdschrift voor geneeskunde 01/2011; 155(33):A3513.
  • Monique H M Derikx, Joost P H Drenth
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    ABSTRACT: Chronic pancreatitis (CP) is a clinical situation with persisting inflammation leading to destruction of the pancreas ensuing endocrine and exocrine failure. There are 4 subtypes: hereditary, idiopathic, alcoholic and tropical pancreatitis. Genetic factors can explain a significant proportion of CP cases. The PRSS1 gene, encoding cationic trypsinogen, was found to be correlated with hereditary CP. This signalled the extensive search for other candidate genes within the trypsin pathway. Genes like SPINK1 and CTRC are associated with CP and should be considered as important contributing factors rather than causative. The search for candidate genes not part of the trypsin pathway has been less successful and the only gene consistently associated with CP is the Cystic Fibrosis Transmembrane Regulator. In this review we will discuss the various CP subtypes in relation to the respective genetic variants. This review will also address the implications of genetic testing in daily clinical practise.
    Best practice & research. Clinical gastroenterology 06/2010; 24(3):251-70. · 2.48 Impact Factor
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    ABSTRACT: Tropical calcific pancreatitis (TCP) is a relatively common form of chronic pancreatitis in parts of Asia and Africa. The SPINK1 variant p.N34S is strongly associated with TCP, but other genetic factors remain to be defined. Chymotrypsinogen C (CTRC) degrades trypsinogen and loss-of-function variants have been found in European patients with chronic pancreatitis. Preliminary data indicate that CTRC might increase the risk for TCP. We selected 150 Indian TCP patients and 150 Indian controls to perform mutational screening of the complete coding region of CTRC and exon 3 of SPINK1. We performed in-silico analysis and functional studies of novel CTRC variants. We identified eight variants among this sample. Three were synonymous and c.180 C>T was significantly enriched in patients (odds ratio=2.09; 95% confidence interval=1.19-3.67; P=0.03). We identified a novel nonsynonymous CTRC (p.G61R) variant in one of 146 patients (0.7%), but absent from controls. In-silico analysis showed that this variant affected a conserved residue, and functional analysis showed that p.G61R results in a complete loss of CTRC secretion from transiently transfected human embryonic kidney 293T cells. SPINK1 p.N34S was present in 31.8% of patients compared with 4.7% in controls, there was no significant cosegregation with CTRC variants. The contribution of CTRC variants to TCP is relatively small, but the identification of novel loss-of-function variants (p.G61R) underscores the importance of the trypsinogen pathway in causing TCP.
    European journal of gastroenterology & hepatology 05/2009; 21(8):889-94. · 1.66 Impact Factor
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    ABSTRACT: OBJECTIVE: To assess genetic, clinical and morphological characteristics of hereditary pancreatitis, a rare type of chronic pancreatitis with an early onset of symptoms, which is, among others, caused by mutations in the PRSS1 gene. DESIGN: Observational cohort study. METHOD: The study population consisted of 496 patients (27,375 person-years) who were referred to Radboud University Nijmegen Medical Centre for molecular diagnosis of hereditary pancreatitis during period 2000 to 2007. 61 patients with a positive family history of hereditary pancreatitis were selected. Analysis for PRSS1 gene mutations was performed by complete sequence analysis of the exons. All patients received a structured questionnaire. RESULTS: From 25 families 61 patients were included (2,047 person-years). PRSS1 mutations were detected in 52 patients (85.2%): p.R122H (67.2%), p.N29I (14.8%), p.E79K (1.6%), p.N29T (1.6%). In the 40 patients whose clinical data were known the median age at diagnosis was 10.5 years (range: 0-42 years). Pain was reported in 28 (70% of 40 patients in whom all information was complete). 27 patients (67.5%) were admitted to the hospital once or more due to the attacks of pancreatitis. Exocrine and endocrine dysfunction was seen in 6 patients (15%). 24 patients (60%) had undergone a surgical intervention, 10 of whom had undergone a pancreaticojejunostomy. A family history of pancreatic carcinoma was found in 5 patients (12.5%). CONCLUSION: The percentage of PRSS1 mutation was high (85.2%) among this Dutch population that was selected on basis of a positive family history of hereditary pancreatitis. Most patients had no chronic pain.
    Nederlands Tijdschrift Voor Geneeskunde - NED TIJDSCHR GENEESKD. 01/2009;
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    ABSTRACT: To assess genetic, clinical and morphological characteristics of hereditary pancreatitis, a rare type of chronic pancreatitis with an early onset of symptoms, which is, among others, caused by mutations in the PRSS1 gene. Observational cohort study. The study population consisted of 496 patients (27,375 person-years) who were referred to Radboud University Nijmegen Medical Centre for molecular diagnosis of hereditary pancreatitis during period 2000 to 2007. 61 patients with a positive family history of hereditary pancreatitis were selected. Analysis for PRSS1 gene mutations was performed by complete sequence analysis of the exons. All patients received a structured questionnaire. From 25 families 61 patients were included (2,047 person-years). PRSS1 mutations were detected in 52 patients (85.2%): p.R122H (67.2%), p.N29I (14.8%), p.E79K (1.6%), p.N29T (1.6%). In the 40 patients whose clinical data were known the median age at diagnosis was 10.5 years (range: 0-42 years). Pain was reported in 28 (70% of 40 patients in whom all information was complete). 27 patients (67.5%) were admitted to the hospital once or more due to the attacks of pancreatitis. Exocrine and endocrine dysfunction was seen in 6 patients (15%). 24 patients (60%) had undergone a surgical intervention, 10 of whom had undergone a pancreaticojejunostomy. A family history of pancreatic carcinoma was found in 5 patients (12.5%). The percentage of PRSS1 mutation was high (85.2%) among this Dutch population that was selected on basis of a positive family history of hereditary pancreatitis. Most patients had no chronic pain.
    Nederlands tijdschrift voor geneeskunde 01/2009; 153:A324.
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    Pancreatology 13(3):S9. · 2.04 Impact Factor

Publication Stats

18 Citations
20.45 Total Impact Points

Institutions

  • 2009–2014
    • Radboud University Nijmegen
      • Department of Gastroenterology and Hepatology
      Nymegen, Gelderland, Netherlands
  • 2012
    • University of Leipzig
      • Klinik und Poliklinik für Gastroenterologie und Rheumatologie
      Leipzig, Saxony, Germany