IllnessPancreatitis, chronic; differential diagnosis

NGS +

[Sanger]

Familial pancreatitis is rare, begins with repeated attacks of inflammation usually in childhood, becomes chronic sooner or later after more frequent acute phases and leads to morphological changes in the pancreas. Complications include pancreatic fibrosis, exocrine insufficiency, diabetes mellitus (type 3c), chronic pain and possibly ductal adenocarcinoma. The onset and course of the disease and the complications vary considerably, and it is likely that so-called modifier genes and external influences play an important role in each patient. Hereditary pancreatitis is often inherited in an autosomal dominant manner (PRSS1 mutations), whereby rare variants can have a modifying effect in several genes (CTRC, CPA1, CEL, PRSS1 genes). More rarely, autosomal recessive inheritance is present (SPINK1, CFTR genes) or more frequently a multifactorial event (CFTR + SPINK1 or CFTR + CASR or CFTR + CTRC genes, etc.) The diagnostic yield depends on the clinical situation.

References: https://www.ncbi.nlm.nih.gov/books/NBK190101/

https://www.ncbi.nlm.nih.gov/books/NBK84399/

https://journals.lww.com/ajg/Fulltext/2020/03000/ACG_Clinical_Guideline__Chronic_Pancreatitis.9.aspx

• Alias: Hereditary chronic pancreatitis; Pancreatitis, hereditary
• Allelic: Azoospermia, obstructive, with nephrolithiasis (CLDN2)
• Allelic: Diabetes mellitus [MONDO:0005015] (CELA3B)
• Allelic: Epilepsy idiopathic generalized, susceptibility to, 8 (CASR)
• Allelic: Pancreatic cancer (CELA3B)
• Chronic Pancreatitis [MONDO:0005003] (CELA3B)
• Cirrhosis, cryptogenic (KRT8)
• Cirrhosis, noncryptogenic, susceptibility to (KRT8)
• Fibrocalculous pancreatic diabetes, susceptibility to (SPINK1)
• Hereditary chronic pancreatitis [panelapp] (CPA1)
• Hyperparathyroidism, neonatal (CASR)
• Hyperparathyroidism, transient neonatal (TRPV6)
• Hypocalcemia, AD, with Bartter syndrome (CASR)
• Hypocalcemia, AR (CASR)
• Hypocalciuric hypercalcemia, type I (CASR)
• Johanson-Blizzard syndrome (UBR1)
• Maturity-onset diabetes of the young, type VIII (CEL)
• Pancreatitis, chronic, susceptibility to (CTRC)
• Pancreatitis, hereditary (CFTR, PRSS1)
• Pancreatitis, hereditary (SPINK1)
• Shwachman-Diamond syndrome [Lipomatosis of pancreas, congenital] (SBDS)
• Tropical calcific pancreatitis (SPINK1)