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Bile acid malabsorption, primary, 1(PBAM1)

MedGen UID:
1794144
Concept ID:
C5561934
Disease or Syndrome
Synonyms: Bile acid malabsorption, primary; PBAM1
 
Gene (location): SLC10A2 (13q33.1)
 
Monarch Initiative: MONDO:0013214
OMIM®: 613291
Orphanet: ORPHA449262

Definition

Primary bile acid malabsorption (PBAM) is an intestinal disorder associated with chronic watery diarrhea, excess fecal bile acids, and steatorrhea. Bile acid malabsorption has been classified into 3 main types depending on the etiology. Types 1 and 3 are secondary disorders: type 1 is due to ileal dysfunction resulting from Crohn disease or ileal resection, and type 3 is secondary to other conditions, including cholecystectomy, post-vagotomy, celiac disease, and pancreatic insufficiency. Type 2 bile acid malabsorption is a primary congenital disorder, including the rare type due to mutations in the SLC10A2 gene (review by Pattni and Walters, 2009). Genetic Heterogeneity of Primary Bile Acid Malabsorption Also see PBAM2 (619481), caused by mutation in the SLC51B gene (612085). [from OMIM]

Clinical features

From HPO
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Steatorrhea
MedGen UID:
20948
Concept ID:
C0038238
Finding
Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.
Chronic diarrhea
MedGen UID:
96036
Concept ID:
C0401151
Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Fat malabsorption
MedGen UID:
108215
Concept ID:
C0554103
Pathologic Function
Abnormality of the absorption of fat from the gastrointestinal tract.
Increased fecal bile acid
MedGen UID:
814633
Concept ID:
C3808303
Finding
Elevated amount of bile acids in the feces.

Professional guidelines

PubMed

Larsen HM, Borre M, Christensen P, Mohr Drewes A, Laurberg S, Krogh K, Fassov J
Acta Oncol 2019 May;58(5):776-781. Epub 2019 Jan 30 doi: 10.1080/0284186X.2018.1562211. PMID: 30698052
Donato LJ, Lueke A, Kenyon SM, Meeusen JW, Camilleri M
Clin Biochem 2018 Feb;52:106-111. Epub 2017 Oct 16 doi: 10.1016/j.clinbiochem.2017.10.008. PMID: 29051033

Recent clinical studies

Etiology

Larsen HM, Borre M, Christensen P, Mohr Drewes A, Laurberg S, Krogh K, Fassov J
Acta Oncol 2019 May;58(5):776-781. Epub 2019 Jan 30 doi: 10.1080/0284186X.2018.1562211. PMID: 30698052
Battat R, Duijvestein M, Vande Casteele N, Singh S, Dulai PS, Valasek MA, Mimms L, McFarland J, Hester KD, Renshaw M, Jain A, Sandborn WJ, Boland BS
Clin Gastroenterol Hepatol 2019 Dec;17(13):2722-2730.e4. Epub 2018 Nov 15 doi: 10.1016/j.cgh.2018.11.012. PMID: 30448597Free PMC Article
Jackson A, Lalji A, Kabir M, Muls A, Gee C, Vyoral S, Shaw C, Andreyev HJN
Clin Med (Lond) 2017 Oct;17(5):412-418. doi: 10.7861/clinmedicine.17-5-412. PMID: 28974589Free PMC Article
Gupta A, Muls AC, Lalji A, Thomas K, Watson L, Shaw C, Andreyev HJ
Support Care Cancer 2015 Oct;23(10):2881-90. Epub 2015 Feb 20 doi: 10.1007/s00520-015-2653-5. PMID: 25693765
Gracie DJ, Kane JS, Mumtaz S, Scarsbrook AF, Chowdhury FU, Ford AC
Neurogastroenterol Motil 2012 Nov;24(11):983-e538. Epub 2012 Jul 5 doi: 10.1111/j.1365-2982.2012.01953.x. PMID: 22765392

Diagnosis

Sagar NM, Duboc H, Kay GL, Alam MT, Wicaksono AN, Covington JA, Quince C, Kokkorou M, Svolos V, Palmieri LJ, Gerasimidis K, Walters JRF, Arasaradnam RP
Sci Rep 2020 Nov 24;10(1):20436. doi: 10.1038/s41598-020-77374-7. PMID: 33235223Free PMC Article
Mena Bares LM, Carmona Asenjo E, García Sánchez MV, Moreno Ortega E, Maza Muret FR, Guiote Moreno MV, Santos Bueno AM, Iglesias Flores E, Benítez Cantero JM, Vallejo Casas JA
Rev Esp Med Nucl Imagen Mol 2017 Jan-Feb;36(1):37-47. Epub 2016 Oct 17 doi: 10.1016/j.remn.2016.08.005. PMID: 27765536
Gupta A, Muls AC, Lalji A, Thomas K, Watson L, Shaw C, Andreyev HJ
Support Care Cancer 2015 Oct;23(10):2881-90. Epub 2015 Feb 20 doi: 10.1007/s00520-015-2653-5. PMID: 25693765
Vítek L
Inflamm Bowel Dis 2015 Feb;21(2):476-83. doi: 10.1097/MIB.0000000000000193. PMID: 25248001
Gracie DJ, Kane JS, Mumtaz S, Scarsbrook AF, Chowdhury FU, Ford AC
Neurogastroenterol Motil 2012 Nov;24(11):983-e538. Epub 2012 Jul 5 doi: 10.1111/j.1365-2982.2012.01953.x. PMID: 22765392

Therapy

Larsen HM, Borre M, Christensen P, Mohr Drewes A, Laurberg S, Krogh K, Fassov J
Acta Oncol 2019 May;58(5):776-781. Epub 2019 Jan 30 doi: 10.1080/0284186X.2018.1562211. PMID: 30698052
Jackson A, Lalji A, Kabir M, Muls A, Gee C, Vyoral S, Shaw C, Andreyev HJN
Clin Med (Lond) 2017 Oct;17(5):412-418. doi: 10.7861/clinmedicine.17-5-412. PMID: 28974589Free PMC Article
Mena Bares LM, Carmona Asenjo E, García Sánchez MV, Moreno Ortega E, Maza Muret FR, Guiote Moreno MV, Santos Bueno AM, Iglesias Flores E, Benítez Cantero JM, Vallejo Casas JA
Rev Esp Med Nucl Imagen Mol 2017 Jan-Feb;36(1):37-47. Epub 2016 Oct 17 doi: 10.1016/j.remn.2016.08.005. PMID: 27765536

Prognosis

Muls AC, Klimova K, Andreyev HJN
Eur J Cancer Care (Engl) 2018 Jan;27(1) Epub 2017 Sep 11 doi: 10.1111/ecc.12766. PMID: 28892252
Vítek L
Inflamm Bowel Dis 2015 Feb;21(2):476-83. doi: 10.1097/MIB.0000000000000193. PMID: 25248001
Gracie DJ, Kane JS, Mumtaz S, Scarsbrook AF, Chowdhury FU, Ford AC
Neurogastroenterol Motil 2012 Nov;24(11):983-e538. Epub 2012 Jul 5 doi: 10.1111/j.1365-2982.2012.01953.x. PMID: 22765392

Clinical prediction guides

Battat R, Duijvestein M, Vande Casteele N, Singh S, Dulai PS, Valasek MA, Mimms L, McFarland J, Hester KD, Renshaw M, Jain A, Sandborn WJ, Boland BS
Clin Gastroenterol Hepatol 2019 Dec;17(13):2722-2730.e4. Epub 2018 Nov 15 doi: 10.1016/j.cgh.2018.11.012. PMID: 30448597Free PMC Article
Muls AC, Klimova K, Andreyev HJN
Eur J Cancer Care (Engl) 2018 Jan;27(1) Epub 2017 Sep 11 doi: 10.1111/ecc.12766. PMID: 28892252
Gracie DJ, Kane JS, Mumtaz S, Scarsbrook AF, Chowdhury FU, Ford AC
Neurogastroenterol Motil 2012 Nov;24(11):983-e538. Epub 2012 Jul 5 doi: 10.1111/j.1365-2982.2012.01953.x. PMID: 22765392

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