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Abnormality of exocrine pancreas physiology

MedGen UID:
866753
Concept ID:
C4021103
Pathologic Function
Synonym: Abnormal exocrine pancreatic function
 
HPO: HP:0012092

Definition

A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of exocrine pancreas physiology

Conditions with this feature

Bronchiectasis with or without elevated sweat chloride 1
MedGen UID:
440868
Concept ID:
C2749757
Disease or Syndrome
Bronchiectasis with or without elevated sweat chloride-1 (BESC1) is characterized by dilation of the airways arising from chronic bronchial inflammation accompanied by chronic cough, purulent sputum, and recurrent respiratory tract infections. Severity is variable, and some patients may be identified in adulthood and have normal respiratory function (Sheridan et al., 2005, Fajac et al., 2008). Genetic Heterogeneity of Bronchiectasis with or without Elevated Sweat Chloride Bronchiectasis with or without elevated sweat chloride-2 (BESC2; 613021) is caused by mutation in the gene encoding the alpha subunit of the epithelial sodium channel (SCNN1A; 600228) on chromosome 12p13, and BESC3 (613071) is caused by mutation in the gene encoding the gamma subunit (SCNN1G; 600761) on chromosome 16p12. Bronchiectasis and elevated sweat chloride associated with pancreatic exocrine dysfunction and infertility are also features of cystic fibrosis (CF; 219700), which is caused by mutation in the CFTR gene (602421).
Bronchiectasis with or without elevated sweat chloride 2
MedGen UID:
414437
Concept ID:
C2751666
Disease or Syndrome
Patients with bronchiectasis with or without elevated sweat chloride-2 (BESC2) have bronchiectasis and chronic bronchitis of varying severity. Pancreatic insufficiency may be present (Azad et al., 2009). For discussion of genetic heterogeneity in bronchiectasis with or without elevated sweat chloride, see BESC1 (211400).

Professional guidelines

PubMed

Scheers I, Palermo JJ, Freedman S, Wilschanski M, Shah U, Abu-El-Haija M, Barth B, Fishman DS, Gariepy C, Giefer MJ, Heyman MB, Himes RW, Husain SZ, Lin TK, Liu Q, Lowe M, Mascarenhas M, Morinville V, Ooi CY, Perito ER, Piccoli DA, Pohl JF, Schwarzenberg SJ, Troendle D, Werlin S, Zimmerman B, Uc A, Gonska T
Am J Gastroenterol 2017 Oct;112(10):1604-1611. Epub 2017 Apr 4 doi: 10.1038/ajg.2017.85. PMID: 28374818Free PMC Article
Littlewood JM, Wolfe SP, Conway SP
Pediatr Pulmonol 2006 Jan;41(1):35-49. doi: 10.1002/ppul.20286. PMID: 16288483
Jackson WD
Curr Opin Pediatr 2001 Oct;13(5):447-51. doi: 10.1097/00008480-200110000-00011. PMID: 11801891

Recent clinical studies

Etiology

Coderre L, Debieche L, Plourde J, Rabasa-Lhoret R, Lesage S
Front Endocrinol (Lausanne) 2021;12:702823. Epub 2021 Jul 30 doi: 10.3389/fendo.2021.702823. PMID: 34394004Free PMC Article
Alexandre-Heymann L, Mallone R, Boitard C, Scharfmann R, Larger E
Rev Endocr Metab Disord 2019 Jun;20(2):129-149. doi: 10.1007/s11154-019-09501-3. PMID: 31077020
Kleeff J, Whitcomb DC, Shimosegawa T, Esposito I, Lerch MM, Gress T, Mayerle J, Drewes AM, Rebours V, Akisik F, Muñoz JED, Neoptolemos JP
Nat Rev Dis Primers 2017 Sep 7;3:17060. doi: 10.1038/nrdp.2017.60. PMID: 28880010
Stram M, Liu S, Singhi AD
Surg Pathol Clin 2016 Dec;9(4):643-659. Epub 2016 Oct 12 doi: 10.1016/j.path.2016.05.008. PMID: 27926364
Julier C, Nicolino M
Orphanet J Rare Dis 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. PMID: 21050479Free PMC Article

Diagnosis

Khan A, Vege SS, Dudeja V, Chari ST
Pancreatology 2022 Jan;22(1):168-172. Epub 2021 Nov 19 doi: 10.1016/j.pan.2021.11.005. PMID: 34916141
Normatov I, Sentongo T
Pediatr Ann 2019 Nov 1;48(11):e441-e447. doi: 10.3928/19382359-20191018-01. PMID: 31710363
Kleeff J, Whitcomb DC, Shimosegawa T, Esposito I, Lerch MM, Gress T, Mayerle J, Drewes AM, Rebours V, Akisik F, Muñoz JED, Neoptolemos JP
Nat Rev Dis Primers 2017 Sep 7;3:17060. doi: 10.1038/nrdp.2017.60. PMID: 28880010
Stram M, Liu S, Singhi AD
Surg Pathol Clin 2016 Dec;9(4):643-659. Epub 2016 Oct 12 doi: 10.1016/j.path.2016.05.008. PMID: 27926364
Geokas MC, Baltaxe HA, Banks PA, Silva J Jr, Frey CF
Ann Intern Med 1985 Jul;103(1):86-100. doi: 10.7326/0003-4819-103-1-86. PMID: 3890660

Therapy

Tan H, Su D, Zhuo Z
Medicine (Baltimore) 2021 Feb 19;100(7):e24712. doi: 10.1097/MD.0000000000024712. PMID: 33607811Free PMC Article
Mei W, Cao F, Li F
BMC Gastroenterol 2020 Apr 6;20(1):94. doi: 10.1186/s12876-020-01245-8. PMID: 32252649Free PMC Article
Alexandre-Heymann L, Mallone R, Boitard C, Scharfmann R, Larger E
Rev Endocr Metab Disord 2019 Jun;20(2):129-149. doi: 10.1007/s11154-019-09501-3. PMID: 31077020
Alkaade S, Vareedayah AA
Am J Manag Care 2017 Jul;23(12 Suppl):S203-S209. PMID: 28727474
Geokas MC, Baltaxe HA, Banks PA, Silva J Jr, Frey CF
Ann Intern Med 1985 Jul;103(1):86-100. doi: 10.7326/0003-4819-103-1-86. PMID: 3890660

Prognosis

Cucinotta U, Romano C, Dipasquale V
Genes (Basel) 2021 Aug 31;12(9) doi: 10.3390/genes12091372. PMID: 34573354Free PMC Article
Reznikov LR
Chest 2017 May;151(5):1147-1155. Epub 2016 Nov 19 doi: 10.1016/j.chest.2016.11.009. PMID: 27876591Free PMC Article
Julier C, Nicolino M
Orphanet J Rare Dis 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. PMID: 21050479Free PMC Article
Geokas MC, Baltaxe HA, Banks PA, Silva J Jr, Frey CF
Ann Intern Med 1985 Jul;103(1):86-100. doi: 10.7326/0003-4819-103-1-86. PMID: 3890660
Cooperman AM
Surg Clin North Am 1981 Feb;61(1):71-83. doi: 10.1016/s0039-6109(16)42333-9. PMID: 7010640

Clinical prediction guides

Coderre L, Debieche L, Plourde J, Rabasa-Lhoret R, Lesage S
Front Endocrinol (Lausanne) 2021;12:702823. Epub 2021 Jul 30 doi: 10.3389/fendo.2021.702823. PMID: 34394004Free PMC Article
Vecchio F, Messina G, Giovenzana A, Petrelli A
Curr Diab Rep 2019 Aug 31;19(10):92. doi: 10.1007/s11892-019-1223-5. PMID: 31471779
Alexandre-Heymann L, Mallone R, Boitard C, Scharfmann R, Larger E
Rev Endocr Metab Disord 2019 Jun;20(2):129-149. doi: 10.1007/s11154-019-09501-3. PMID: 31077020
Reznikov LR
Chest 2017 May;151(5):1147-1155. Epub 2016 Nov 19 doi: 10.1016/j.chest.2016.11.009. PMID: 27876591Free PMC Article
Geokas MC, Baltaxe HA, Banks PA, Silva J Jr, Frey CF
Ann Intern Med 1985 Jul;103(1):86-100. doi: 10.7326/0003-4819-103-1-86. PMID: 3890660

Recent systematic reviews

Aldrian D, Bochdansky C, Kavallar AM, Mayerhofer C, Deeb A, Habeb A, Romera Rabasa A, Khadilkar A, Uçar A, Knoppke B, Zafeiriou D, Lang-Muritano M, Miqdady M, Judmaier S, McLin V, Furdela V, Müller T, Vogel GF
Liver Int 2024 Mar;44(3):811-822. Epub 2024 Jan 17 doi: 10.1111/liv.15834. PMID: 38230874
Iglesia D, Avci B, Kiriukova M, Panic N, Bozhychko M, Sandru V, de-Madaria E, Capurso G
United European Gastroenterol J 2020 Nov;8(9):1115-1125. Epub 2020 Jul 6 doi: 10.1177/2050640620938987. PMID: 32631175Free PMC Article
Dugic A, Nikolic S, Mühldorfer S, Bulajic M, Pozzi Mucelli R, Tsolakis AV, Löhr JM, Vujasinovic M
Scand J Gastroenterol 2020 May;55(5):517-527. Epub 2020 May 12 doi: 10.1080/00365521.2020.1760345. PMID: 32393143

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