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Pancreatic insufficiency, combined exocrine

MedGen UID:
340462
Concept ID:
C1850081
Disease or Syndrome
Synonyms: Pancreatic Insufficiency, Combined Exocrine
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 260450

Clinical features

Imperforate anus
MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.
Hypoproteinemia
MedGen UID:
43801
Concept ID:
C0020639
Finding
A condition in which total serum protein level is below the normal range. Hypoproteinemia can be caused by protein malabsorption in the gastrointestinal tract, EDEMA, or PROTEINURIA.
Exocrine pancreatic insufficiency
MedGen UID:
45295
Concept ID:
C0030293
Disease or Syndrome
Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
Anasarca
MedGen UID:
101794
Concept ID:
C0151603
Pathologic Function
A condition that is characterized by the presence of generalized edema. Causes include congestive heart failure, liver failure, renal failure, and severe malnutrition.

Recent clinical studies

Etiology

Domínguez-Muñoz JE, Nieto-Garcia L, López-Díaz J, Lariño-Noia J, Abdulkader I, Iglesias-Garcia J
BMC Cancer 2018 May 5;18(1):534. doi: 10.1186/s12885-018-4439-x. PMID: 29728096Free PMC Article
Naffouje SA, Salti GI
Anticancer Res 2018 Apr;38(4):2353-2358. doi: 10.21873/anticanres.12482. PMID: 29599360
Widodo AD, Timan IS, Bardosono S, Winarta W, Prasetyo D, Firmansyah A
Asia Pac J Clin Nutr 2016 Dec;25(Suppl 1):S57-S61. doi: 10.6133/apjcn.122016.s3. PMID: 28027633
Engjom T, Erchinger F, Tjora E, Lærum BN, Georg D, Gilja OH
Scand J Gastroenterol 2015 May;50(5):601-10. Epub 2015 Jan 26 doi: 10.3109/00365521.2015.1004363. PMID: 25623422
Nakamura H, Murakami Y, Uemura K, Hayashidani Y, Sudo T, Ohge H, Sueda T
J Gastrointest Surg 2009 Jul;13(7):1321-7. Epub 2009 May 5 doi: 10.1007/s11605-009-0896-5. PMID: 19415402

Diagnosis

Domínguez-Muñoz JE, Nieto-Garcia L, López-Díaz J, Lariño-Noia J, Abdulkader I, Iglesias-Garcia J
BMC Cancer 2018 May 5;18(1):534. doi: 10.1186/s12885-018-4439-x. PMID: 29728096Free PMC Article
Naffouje SA, Salti GI
Anticancer Res 2018 Apr;38(4):2353-2358. doi: 10.21873/anticanres.12482. PMID: 29599360
Engjom T, Erchinger F, Tjora E, Lærum BN, Georg D, Gilja OH
Scand J Gastroenterol 2015 May;50(5):601-10. Epub 2015 Jan 26 doi: 10.3109/00365521.2015.1004363. PMID: 25623422
Nakamura H, Murakami Y, Uemura K, Hayashidani Y, Sudo T, Ohge H, Sueda T
J Gastrointest Surg 2009 Jul;13(7):1321-7. Epub 2009 May 5 doi: 10.1007/s11605-009-0896-5. PMID: 19415402
Bilgin M, Balci NC, Momtahen AJ, Bilgin Y, Klör HU, Rau WS
J Clin Gastroenterol 2009 Feb;43(2):165-70. doi: 10.1097/MCG.0b013e3181587912. PMID: 18797409

Therapy

Domínguez-Muñoz JE, Nieto-Garcia L, López-Díaz J, Lariño-Noia J, Abdulkader I, Iglesias-Garcia J
BMC Cancer 2018 May 5;18(1):534. doi: 10.1186/s12885-018-4439-x. PMID: 29728096Free PMC Article
Naffouje SA, Salti GI
Anticancer Res 2018 Apr;38(4):2353-2358. doi: 10.21873/anticanres.12482. PMID: 29599360
Wydmanski J, Polanowski P, Tukiendorf A, Maslyk B
Radiother Oncol 2016 Mar;118(3):535-9. Epub 2015 Dec 18 doi: 10.1016/j.radonc.2015.11.033. PMID: 26709067
Engjom T, Erchinger F, Tjora E, Lærum BN, Georg D, Gilja OH
Scand J Gastroenterol 2015 May;50(5):601-10. Epub 2015 Jan 26 doi: 10.3109/00365521.2015.1004363. PMID: 25623422
Nakamura H, Murakami Y, Uemura K, Hayashidani Y, Sudo T, Ohge H, Sueda T
J Gastrointest Surg 2009 Jul;13(7):1321-7. Epub 2009 May 5 doi: 10.1007/s11605-009-0896-5. PMID: 19415402

Prognosis

Naffouje SA, Salti GI
Anticancer Res 2018 Apr;38(4):2353-2358. doi: 10.21873/anticanres.12482. PMID: 29599360
Engjom T, Erchinger F, Tjora E, Lærum BN, Georg D, Gilja OH
Scand J Gastroenterol 2015 May;50(5):601-10. Epub 2015 Jan 26 doi: 10.3109/00365521.2015.1004363. PMID: 25623422
Maire F, Le Baleur Y, Rebours V, Vullierme MP, Couvelard A, Voitot H, Sauvanet A, Hentic O, Lévy P, Ruszniewski P, Hammel P
Am J Gastroenterol 2011 Jan;106(1):151-6. Epub 2010 Aug 24 doi: 10.1038/ajg.2010.314. PMID: 20736934
Nakamura H, Murakami Y, Uemura K, Hayashidani Y, Sudo T, Ohge H, Sueda T
J Gastrointest Surg 2009 Jul;13(7):1321-7. Epub 2009 May 5 doi: 10.1007/s11605-009-0896-5. PMID: 19415402
Sandhu BS, Hackworth WA, Stevens S, Bouhaidar DS, Zfass AM, Sanyal AJ
Clin Gastroenterol Hepatol 2007 Sep;5(9):1085-91; quiz 1007. Epub 2007 Jun 27 doi: 10.1016/j.cgh.2007.04.011. PMID: 17588823

Clinical prediction guides

Domínguez-Muñoz JE, Nieto-Garcia L, López-Díaz J, Lariño-Noia J, Abdulkader I, Iglesias-Garcia J
BMC Cancer 2018 May 5;18(1):534. doi: 10.1186/s12885-018-4439-x. PMID: 29728096Free PMC Article
Naffouje SA, Salti GI
Anticancer Res 2018 Apr;38(4):2353-2358. doi: 10.21873/anticanres.12482. PMID: 29599360
Widodo AD, Timan IS, Bardosono S, Winarta W, Prasetyo D, Firmansyah A
Asia Pac J Clin Nutr 2016 Dec;25(Suppl 1):S57-S61. doi: 10.6133/apjcn.122016.s3. PMID: 28027633
Engjom T, Erchinger F, Tjora E, Lærum BN, Georg D, Gilja OH
Scand J Gastroenterol 2015 May;50(5):601-10. Epub 2015 Jan 26 doi: 10.3109/00365521.2015.1004363. PMID: 25623422
Nakamura H, Murakami Y, Uemura K, Hayashidani Y, Sudo T, Ohge H, Sueda T
J Gastrointest Surg 2009 Jul;13(7):1321-7. Epub 2009 May 5 doi: 10.1007/s11605-009-0896-5. PMID: 19415402

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