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Cholestasis, progressive familial intrahepatic, 6(PFIC6)

MedGen UID:
1794175
Concept ID:
C5561965
Disease or Syndrome
Synonyms: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
 
Gene (location): SLC51A (3q29)
 
Monarch Initiative: MONDO:0030360
OMIM®: 619484

Definition

Progressive familial intrahepatic cholestasis-6 (PFIC6) is an autosomal recessive disorder characterized by elevated liver transaminases, cholestasis, and congenital diarrhea (Gao et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600). [from OMIM]

Clinical features

From HPO
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.
Intrahepatic cholestasis
MedGen UID:
3042
Concept ID:
C0008372
Disease or Syndrome
Impairment of bile flow due to obstruction in the small bile ducts within the liver.
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.
Periportal fibrosis
MedGen UID:
337906
Concept ID:
C1849766
Disease or Syndrome
The presence of fibrosis affecting the interlobular stroma of liver.
Bleeding requiring red cell transfusion
MedGen UID:
868739
Concept ID:
C4023144
Finding
Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4).
Conjugated hyperbilirubinemia
MedGen UID:
82787
Concept ID:
C0268307
Disease or Syndrome
Abnormally high level of conjugated bilirubin in the blood.
Elevated circulating alkaline phosphatase concentration
MedGen UID:
727252
Concept ID:
C1314665
Finding
Abnormally increased serum levels of alkaline phosphatase activity.
Elevated circulating hepatic transaminase concentration
MedGen UID:
338525
Concept ID:
C1848701
Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Elevated gamma-glutamyltransferase level
MedGen UID:
1370086
Concept ID:
C4476869
Finding
Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.

Professional guidelines

PubMed

Varol Fİ, Selimoğlu MA, Güngör Ş, Yılmaz S, Tekedereli İ
Arab J Gastroenterol 2021 Dec;22(4):310-315. Epub 2021 Nov 25 doi: 10.1016/j.ajg.2021.05.021. PMID: 34840097
Overeem AW, Li Q, Qiu YL, Cartón-García F, Leng C, Klappe K, Dronkers J, Hsiao NH, Wang JS, Arango D, van Ijzendoorn SCD
Hepatology 2020 Jul;72(1):213-229. Epub 2020 Apr 23 doi: 10.1002/hep.31002. PMID: 31750554Free PMC Article
Schonfeld EA, Brown RS Jr
Med Clin North Am 2019 Nov;103(6):991-1003. doi: 10.1016/j.mcna.2019.07.003. PMID: 31582009

Recent clinical studies

Etiology

Cheema HA, Waheed N, Saeed A, Anjum MN, Fayyaz Z, Ijaz S
J Pak Med Assoc 2023 Aug;73(8):1610-1621. doi: 10.47391/JPMA.7069. PMID: 37697751
Vasudevan AK, Shanmugam N, Rammohan A, Valamparampil JJ, Rinaldhy K, Menon J, Thambithurai R, Namasivayam S, Kaliamoorthy I, Rela M
Pediatr Transplant 2023 Dec;27(8):e14600. Epub 2023 Sep 7 doi: 10.1111/petr.14600. PMID: 37675889
Thompson RJ, Arnell H, Artan R, Baumann U, Calvo PL, Czubkowski P, Dalgic B, D'Antiga L, Durmaz Ö, Fischler B, Gonzalès E, Grammatikopoulos T, Gupte G, Hardikar W, Houwen RHJ, Kamath BM, Karpen SJ, Kjems L, Lacaille F, Lachaux A, Lainka E, Mack CL, Mattsson JP, McKiernan P, Özen H, Rajwal SR, Roquelaure B, Shagrani M, Shteyer E, Soufi N, Sturm E, Tessier ME, Verkade HJ, Horn P
Lancet Gastroenterol Hepatol 2022 Sep;7(9):830-842. Epub 2022 Jul 1 doi: 10.1016/S2468-1253(22)00093-0. PMID: 35780807
Sira MM, Taha M, Sira AM
Eur J Gastroenterol Hepatol 2014 Nov;26(11):1300-5. doi: 10.1097/MEG.0000000000000198. PMID: 25171020
Jankowska I, Czubkowski P, Kaliciński P, Ismail H, Kowalski A, Ryżko J, Pawłowska J
J Pediatr Gastroenterol Nutr 2014 Jan;58(1):92-5. doi: 10.1097/MPG.0b013e3182a9097c. PMID: 24385022

Diagnosis

Cheema HA, Waheed N, Saeed A, Anjum MN, Fayyaz Z, Ijaz S
J Pak Med Assoc 2023 Aug;73(8):1610-1621. doi: 10.47391/JPMA.7069. PMID: 37697751
Thompson RJ, Arnell H, Artan R, Baumann U, Calvo PL, Czubkowski P, Dalgic B, D'Antiga L, Durmaz Ö, Fischler B, Gonzalès E, Grammatikopoulos T, Gupte G, Hardikar W, Houwen RHJ, Kamath BM, Karpen SJ, Kjems L, Lacaille F, Lachaux A, Lainka E, Mack CL, Mattsson JP, McKiernan P, Özen H, Rajwal SR, Roquelaure B, Shagrani M, Shteyer E, Soufi N, Sturm E, Tessier ME, Verkade HJ, Horn P
Lancet Gastroenterol Hepatol 2022 Sep;7(9):830-842. Epub 2022 Jul 1 doi: 10.1016/S2468-1253(22)00093-0. PMID: 35780807
Baumann U, Sturm E, Lacaille F, Gonzalès E, Arnell H, Fischler B, Jørgensen MH, Thompson RJ, Mattsson JP, Ekelund M, Lindström E, Gillberg PG, Torfgård K, Soni PN
Clin Res Hepatol Gastroenterol 2021 Sep;45(5):101751. Epub 2021 Jun 26 doi: 10.1016/j.clinre.2021.101751. PMID: 34182185
Reichert MC, Hall RA, Krawczyk M, Lammert F
Biochim Biophys Acta Mol Basis Dis 2018 Apr;1864(4 Pt B):1484-1490. Epub 2017 Jul 27 doi: 10.1016/j.bbadis.2017.07.029. PMID: 28757171
Lazaridis KN, LaRusso NF
Mayo Clin Proc 2015 Jun;90(6):791-800. Epub 2015 May 6 doi: 10.1016/j.mayocp.2015.03.017. PMID: 25957621Free PMC Article

Therapy

Chen R, Yang FX, Tan YF, Deng M, Li H, Xu Y, Ouyang WX, Song YZ
Orphanet J Rare Dis 2022 Dec 22;17(1):445. doi: 10.1186/s13023-022-02597-y. PMID: 36550572Free PMC Article
Thompson RJ, Arnell H, Artan R, Baumann U, Calvo PL, Czubkowski P, Dalgic B, D'Antiga L, Durmaz Ö, Fischler B, Gonzalès E, Grammatikopoulos T, Gupte G, Hardikar W, Houwen RHJ, Kamath BM, Karpen SJ, Kjems L, Lacaille F, Lachaux A, Lainka E, Mack CL, Mattsson JP, McKiernan P, Özen H, Rajwal SR, Roquelaure B, Shagrani M, Shteyer E, Soufi N, Sturm E, Tessier ME, Verkade HJ, Horn P
Lancet Gastroenterol Hepatol 2022 Sep;7(9):830-842. Epub 2022 Jul 1 doi: 10.1016/S2468-1253(22)00093-0. PMID: 35780807
Deeks ED
Drugs 2021 Oct;81(15):1781-1786. doi: 10.1007/s40265-021-01594-y. PMID: 34499340Free PMC Article
Baumann U, Sturm E, Lacaille F, Gonzalès E, Arnell H, Fischler B, Jørgensen MH, Thompson RJ, Mattsson JP, Ekelund M, Lindström E, Gillberg PG, Torfgård K, Soni PN
Clin Res Hepatol Gastroenterol 2021 Sep;45(5):101751. Epub 2021 Jun 26 doi: 10.1016/j.clinre.2021.101751. PMID: 34182185
Wei G, Cao J, Huang P, An P, Badlani D, Vaid KA, Zhao S, Wang DQ, Zhuo J, Yin L, Frassetto A, Markel A, Presnyak V, Gandham S, Hua S, Lukacs C, Finn PF, Giangrande PH, Martini PGV, Popov YV
J Hepatol 2021 Jun;74(6):1416-1428. Epub 2020 Dec 17 doi: 10.1016/j.jhep.2020.12.010. PMID: 33340584Free PMC Article

Prognosis

Chen R, Yang FX, Tan YF, Deng M, Li H, Xu Y, Ouyang WX, Song YZ
Orphanet J Rare Dis 2022 Dec 22;17(1):445. doi: 10.1186/s13023-022-02597-y. PMID: 36550572Free PMC Article
Thébaut A, Habes D, Gottrand F, Rivet C, Cohen J, Debray D, Jacquemin E, Gonzales E
J Pediatr Gastroenterol Nutr 2017 Mar;64(3):431-435. doi: 10.1097/MPG.0000000000001385. PMID: 27557426
Morris AL, Bukauskas K, Sada RE, Shneider BL
J Pediatr Gastroenterol Nutr 2015 Apr;60(4):460-6. doi: 10.1097/MPG.0000000000000650. PMID: 25825852
Jankowska I, Czubkowski P, Kaliciński P, Ismail H, Kowalski A, Ryżko J, Pawłowska J
J Pediatr Gastroenterol Nutr 2014 Jan;58(1):92-5. doi: 10.1097/MPG.0b013e3182a9097c. PMID: 24385022
Hori T, Nguyen JH, Uemoto S
Hepatobiliary Pancreat Dis Int 2010 Dec;9(6):570-8. PMID: 21134824

Clinical prediction guides

Nayagam JS, Foskett P, Strautnieks S, Agarwal K, Miquel R, Joshi D, Thompson RJ
Hepatol Commun 2022 Oct;6(10):2654-2664. Epub 2022 Jul 27 doi: 10.1002/hep4.2051. PMID: 35894240Free PMC Article
Thompson RJ, Arnell H, Artan R, Baumann U, Calvo PL, Czubkowski P, Dalgic B, D'Antiga L, Durmaz Ö, Fischler B, Gonzalès E, Grammatikopoulos T, Gupte G, Hardikar W, Houwen RHJ, Kamath BM, Karpen SJ, Kjems L, Lacaille F, Lachaux A, Lainka E, Mack CL, Mattsson JP, McKiernan P, Özen H, Rajwal SR, Roquelaure B, Shagrani M, Shteyer E, Soufi N, Sturm E, Tessier ME, Verkade HJ, Horn P
Lancet Gastroenterol Hepatol 2022 Sep;7(9):830-842. Epub 2022 Jul 1 doi: 10.1016/S2468-1253(22)00093-0. PMID: 35780807
Baumann U, Sturm E, Lacaille F, Gonzalès E, Arnell H, Fischler B, Jørgensen MH, Thompson RJ, Mattsson JP, Ekelund M, Lindström E, Gillberg PG, Torfgård K, Soni PN
Clin Res Hepatol Gastroenterol 2021 Sep;45(5):101751. Epub 2021 Jun 26 doi: 10.1016/j.clinre.2021.101751. PMID: 34182185
Morris AL, Bukauskas K, Sada RE, Shneider BL
J Pediatr Gastroenterol Nutr 2015 Apr;60(4):460-6. doi: 10.1097/MPG.0000000000000650. PMID: 25825852
Jankowska I, Czubkowski P, Kaliciński P, Ismail H, Kowalski A, Ryżko J, Pawłowska J
J Pediatr Gastroenterol Nutr 2014 Jan;58(1):92-5. doi: 10.1097/MPG.0b013e3182a9097c. PMID: 24385022

Recent systematic reviews

Kavallar AM, Mayerhofer C, Aldrian D, Okamoto T, Müller T, Vogel GF
Hepatol Commun 2023 Oct 1;7(10) Epub 2023 Sep 27 doi: 10.1097/HC9.0000000000000286. PMID: 37756114Free PMC Article
Reynal F, Camoin A, Tardieu C, Fabre A, Blanchet I
Arch Pediatr 2023 Aug;30(6):427-437. Epub 2023 Jun 30 doi: 10.1016/j.arcped.2023.06.003. PMID: 37394364

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