PRSS1 (R122H) mutation in an Indian family with low penetrance is associated with pancreatitis phenotype

Avanthi, Urmila Steffie; Bale, Gemma; Aslam, Mohsin; Talukdar, Rupjyoti; Duvvur, Nageshwar R.; Vishnubhotla, Ravikanth

doi:10.1007/s12664-018-0828-y

Cited by 5 publications

(3 citation statements)

References 14 publications

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“…Since 1996, many PRSS1 variants have been reported. Among the PRSS1 variants that have been classified as pathogenic, some were shown to be associated with a high penetrance and others with a low penetrance [14][15][16]. However, assessing the clinical relevance of rare or private PRSS1 variants is often complicated in the absence of functional evidence [17].…”

Section: Introductionmentioning

confidence: 99%

WITHDRAWN: Clinical interpretation of PRSS1 gene variants in patients with pancreatitis

Girodon

Rebours²,

Chen³

et al. 2022

Clinics and Research in Hepatology and Gastroenterology

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Section: Introductionmentioning

confidence: 99%

WITHDRAWN: Clinical interpretation of PRSS1 gene variants in patients with pancreatitis

Girodon

Rebours²,

Chen³

et al. 2022

Clinics and Research in Hepatology and Gastroenterology

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“…Hereditary pancreatitis is linked to mutations in PRSS1, CFTR, SPINK1, CTSB, CASR, PSP/Reg, etc. (6)(7)(8)(9). But no genes associated with hereditary pancreatitis were found.…”

Section: Discussionmentioning

confidence: 99%

Multidisciplinary treatment of chronic active Epstein-Barr virus infection with multiple complications: a case report

Ali¹,

Liu²,

Shang³

et al. 2021

Transl Pediatr

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We report a case of a 3-year-old boy diagnosed with CAEBV infection followed by pancreatic mass and recurrent pancreatitis. Due to the difficult clinical course of this patient's illness and complex diagnosis making, specialists from various departments were consulted. The multidisciplinary approach was crucial for the correct identification of the etiology of pancreatitis and pancreatic mass and selecting the most suitable treatment option. We present the following case in accordance with the CARE reporting checklist (available at

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“…Even though several genetic polymorphisms have been associated with the development of RAP and CP, the results need to be interpreted with caution. While the high penetrance pancreatitis-associated PRSS1 R122H gene is rare in India [14,15], the other implicated genes such as the SPINK1, CTSB, Claudin2, CASR, and CTRC have lower penetrance and confer only a slightly increased odds ratio for development of RAP and CP [16,17]. A whole gene or exome sequencing could unravel novel genetic polymorphisms involving a wide range of pathogenic functions, but again, the strength of association will have to be critically analyzed.…”

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confidence: 99%

Progression of recurrent acute to chronic pancreatitis: More questions than answers!

Talukdar

2018

Indian J Gastroenterol

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Acute pancreatitis (AP) continues to pose a substantial challenge to clinicians and researchers. It has been proposed that an index episode of AP could progress to recurrent AP (RAP) and may finally culminate into chronic pancreatitis (CP). This is the sentinel acute pancreatitis event (SAPE) hypothesis that defines pancreatitis as a disease spectrum [1]. Even though several clinical and bench studies have provided insights into the pathophysiology of the disease [2][3][4][5], there is still no modality to accurately predict the progression of RAP to CP. This gap in understanding has likely, at least in part, precluded development of any specific interventions that could prevent progression of RAP to CP or reverse the changes of CP.In the current issue, Kalaria and colleagues have reported their observations on the progression of RAP to CP in a tertiary care private hospital in western India [6]. They observed the development of features of CP during a median period of 32 months in five out of 72 patients who had a single episode of AP. 27.8% had RAP of which 13 (48.1%) developed features of chronicity after a median of 47 months from the index or sentinel episode. Chronicity was observed with a higher frequency among patients with alcoholic and idiopathic subtypes. In a meta-analysis by Sankaran et al. in 2015 [7], the crude prevalence of RAP based on 11 studies (n = 8017) was estimated to be 22% (95% CI 18% to 26%). However, on analysis of the prospective studies only (nine studies, n = 1869), the pooled prevalence of RAP turned out to be 20% (95% CI 15% to 25%). Five studies (n = 6826) in this metaanalysis reported the subsequent diagnosis of CP after RAP, which was reported to be 36% (95% CI 20% to 53%). On the other hand, 10% of patients who had a single episode of AP subsequently developed CP. Unpublished data from an ongoing study from our institute also reveals that 10% of patients with a single episode of AP and 28% with RAP eventually developed CP.Since only a proportion of RAP progresses to CP, it becomes speculative as to what determines the progression of RAP to CP. A recent study from the Dutch group involving 669 patients who survived the first episode of AP defined independent risk factors for the development of CP after an index and recurrent AP [8]. RAP conferred an odds of 2.90 (95% CI 2.07 to 4.05) per episode for progression to CP. Among patients who had RAP as a risk factor, the other independent risk factors for progression to CP were alcohol as the etiology (OR 4.85 [95% CI 2.04 to 11.52]) and development of necrotizing pancreatitis (OR 8.78 [95% CI 4.09 to 18.86]). On the other hand, among patients who did not have RAP, the independent risk factors were alcohol (OR 4.22 [95% CI 1.83 to 9.73]; p = 0.001) and idiopathic etiology (OR 3.98 [95% CI 1.64 to 9.65]; p = 0.002), current smoker (OR 2.90 [95% CI 1.42 to 5.93]; p = 0.004), and necrotizing pancreatitis (OR 6.65 [95% CI 3.40 to 13.01]; p < 0.001).It is now clearly established that the pathological hallmark of CP is progressive fibros...

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PRSS1 (R122H) mutation in an Indian family with low penetrance is associated with pancreatitis phenotype

Cited by 5 publications

References 14 publications

WITHDRAWN: Clinical interpretation of PRSS1 gene variants in patients with pancreatitis

WITHDRAWN: Clinical interpretation of PRSS1 gene variants in patients with pancreatitis

Multidisciplinary treatment of chronic active Epstein-Barr virus infection with multiple complications: a case report

Progression of recurrent acute to chronic pancreatitis: More questions than answers!

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