Hereditary pancreatitis in Paediatrics: the causative role of p.Leu104Pro mutation of cationic trypsinogen gene also in young subjects

We read with interest the letter by Németh et al,1 describing a hereditary pancreatitis (HP) family of Hungarian origin carrying the heterozygous p.Leu104Pro variant of human cationic trypsinogen (PRSS1) gene. It added further data to previous publications by Schnúr et al2 and Balázs et al,3 who proposed that a subset of PRSS1 variants caused chronic pancreatitis by inducing misfolding and endoplasmic reticulum stress, rather than increased intrapancreatic trypsin activity.

However, a clinically defined relationship between the mutation and the phenotypic expression in the general population still remains to be established. Indeed, to date, p.Leu104Pro PRSS1 variant has been reported in three families: three heterozygous carriers of a German pedigree without clinically proven chronic pancreatitis, a subject of Chinese origin with late onset idiopathic chronic pancreatitis3 4 and three related Hungarian subjects who presented with HP in adult life, as reported in...

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