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Acholic stools

MedGen UID:
436478
Concept ID:
C2675627
Finding
Synonym: Discolored, acholic stools
SNOMED CT: Acholic stool (70396004); Acholic feces (70396004); Clay-colored stools (70396004); Gray stools (70396004)
 
HPO: HP:0011985

Definition

Clay colored stools lacking bile pigment. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcholic stools

Conditions with this feature

Congenital bile acid synthesis defect 1
MedGen UID:
335883
Concept ID:
C1843116
Disease or Syndrome
Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice and malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal tract resulting from a primary failure to synthesize bile acids. Affected infants show failure to thrive and secondary coagulopathy. In most forms of the disorder, there is a favorable response to oral bile acid therapy (summary by Cheng et al., 2003). Genetic Heterogeneity of Congenital Defects in Bile Acid Synthesis There are several disorders that result from defects in bile acid synthesis. See CBAS2 (235555), caused by mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1; 604741) on chromosome 7q33; CBAS3 (613812), caused by mutation in the 7-alpha hydroxylase gene (CYP7B1; 603711) on chromosome 8q12; CBAS4 (214950), caused by mutation in the AMACR gene (604489) on chromosome 5p13; CBAS5 (616278), caused by mutation in the ABCD3 gene (170995) on chromosome 1p21; and CBAS6 (617308), caused by mutation in the ACOX2 gene (601641) on chromosome 3p14. See also progressive familial intrahepatic cholestasis (PFIC1; 211600), which has a similar phenotype.
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
MedGen UID:
411637
Concept ID:
C2748662
Disease or Syndrome
Mitchell-Riley syndrome is characterized by neonatal diabetes, pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia. There is considerable phenotypic overlap between Mitchell-Riley syndrome and Martinez-Frias syndrome (601346), the latter being characterized by the features of the Mitchell-Riley syndrome except for neonatal diabetes, and including tracheoesophageal fistula in some patients (Smith et al., 2010).
Congenital bile acid synthesis defect 3
MedGen UID:
462497
Concept ID:
C3151147
Disease or Syndrome
Congenital bile acid synthesis defect-3 (CBAS3) is an autosomal recessive disorder characterized by prolonged jaundice after birth, hepatomegaly, conjugated hyperbilirubinemia, elevations in characteristic abnormal bile acids, and progressive intrahepatic cholestasis with liver fibrosis (summary by Setchell et al., 1998 and Ueki et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of congenital bile acid synthesis defects, see 607765.
Isolated neonatal sclerosing cholangitis
MedGen UID:
1393230
Concept ID:
C4479344
Disease or Syndrome
Neonatal sclerosing cholangitis (NSC) is a rare autosomal recessive form of severe liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis; most require liver transplantation in the first few decades of life. Cholangiography shows patent biliary ducts, but there are bile duct irregularities (summary by Girard et al., 2016; Grammatikopoulos et al., 2016).
Extrahepatic biliary atresia
MedGen UID:
1621383
Concept ID:
C4520983
Congenital Abnormality
Biliary atresia is a disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow. Untreated, the resulting cholestasis leads to progressive conjugated hyperbilirubinemia, cirrhosis, and hepatic failure (Bates et al., 1998). Most patients require liver transplantation within the first year of life (Leyva-Vega et al., 2010). See also Alagille syndrome (118450), which includes biliary atresia as a feature.
Cholestasis, progressive familial intrahepatic, 10
MedGen UID:
1807702
Concept ID:
C5676981
Disease or Syndrome
Progressive familial intrahepatic cholestasis-10 (PFIC10) is an autosomal recessive liver disorder characterized by the onset of symptoms in the first months or years of life. Features include jaundice, pruritis, and hepatomegaly associated with increased serum bilirubin and bile acids. Liver transaminases may be variably increased, but gamma-glutamyltransferase (GGT; see 612346) is normal. Liver biopsy shows hepatocellular and canalicular cholestasis with giant cell changes. Although rare patients may have episodes of diarrhea and even show endoscopic features of microvillus inclusion disease (MVID), this tends to be transient and cholestasis dominates the clinical picture (Gonzales et al., 2017; Cockar et al., 2020). For a discussion of genetic heterogeneity of progressive familial intrahepatic cholestasis, see PFIC1 (211600).

Professional guidelines

PubMed

Napolitano M, Franchi-Abella S, Damasio MB, Augdal TA, Avni FE, Bruno C, Darge K, Ključevšek D, Littooij AS, Lobo L, Mentzel HJ, Riccabona M, Stafrace S, Toso S, Woźniak MM, Di Leo G, Sardanelli F, Ording Müller LS, Petit P
Pediatr Radiol 2021 Feb;51(2):314-331. Epub 2020 Nov 17 doi: 10.1007/s00247-020-04840-9. PMID: 33201318
Hoshino E, Hayashi K, Suzuki M, Obatake M, Urayama KY, Nakano S, Taura Y, Nio M, Takahashi O
Pediatr Surg Int 2017 Oct;33(10):1115-1121. Epub 2017 Aug 17 doi: 10.1007/s00383-017-4146-8. PMID: 28819683
De La Cruz MS, Young AP, Ruffin MT
Am Fam Physician 2014 Apr 15;89(8):626-32. PMID: 24784121

Recent clinical studies

Etiology

Khan SA, Ali N, Dar FS, Malik MI
Pediatr Transplant 2023 Feb;27(1):e14357. Epub 2022 Jul 13 doi: 10.1111/petr.14357. PMID: 35831918
Togawa T, Mizuochi T, Sugiura T, Kusano H, Tanikawa K, Sasaki T, Ichinose F, Kagimoto S, Tainaka T, Uchida H, Saitoh S
J Pediatr 2018 May;196:161-167.e1. Epub 2018 Feb 28 doi: 10.1016/j.jpeds.2017.12.058. PMID: 29499989
Goneidy A, Ong EGP
J Pediatr Surg 2018 Feb;53(2):274-276. Epub 2017 Dec 6 doi: 10.1016/j.jpedsurg.2017.11.018. PMID: 29221637
De La Cruz MS, Young AP, Ruffin MT
Am Fam Physician 2014 Apr 15;89(8):626-32. PMID: 24784121
Lee WS, Chai PF
Ann Acad Med Singap 2010 Aug;39(8):648-54. PMID: 20838708

Diagnosis

Midura D, Statter MB
Pediatr Rev 2022 Mar 1;43(3):148-159. doi: 10.1542/pir.2020-004916. PMID: 35229116
Angelico R, Liccardo D, Paoletti M, Pietrobattista A, Basso MS, Mosca A, Safarikia S, Grimaldi C, Saffioti MC, Candusso M, Maggiore G, Spada M
J Med Screen 2021 Sep;28(3):230-237. Epub 2020 Nov 26 doi: 10.1177/0969141320974413. PMID: 33241758
Singh H, Hong MH, Hinds R
J Paediatr Child Health 2020 Nov;56(11):1812-1813. doi: 10.1111/jpc.14694. PMID: 33197985
Franciscovich A, Vaidya D, Doyle J, Bolinger J, Capdevila M, Rice M, Hancock L, Mahr T, Mogul DB
PLoS One 2015;10(7):e0132270. Epub 2015 Jul 29 doi: 10.1371/journal.pone.0132270. PMID: 26221719Free PMC Article
De Bruyne R, Van Biervliet S, Vande Velde S, Van Winckel M
Eur J Pediatr 2011 Mar;170(3):279-84. Epub 2011 Jan 20 doi: 10.1007/s00431-010-1363-8. PMID: 21249394

Therapy

Khan SA, Ali N, Dar FS, Malik MI
Pediatr Transplant 2023 Feb;27(1):e14357. Epub 2022 Jul 13 doi: 10.1111/petr.14357. PMID: 35831918
Madadi-Sanjani O, Schukfeh N, Uecker M, Eckmann S, Dingemann J, Ure BM, Petersen C, Kuebler JF
Eur J Pediatr Surg 2021 Feb;31(1):80-85. Epub 2020 Aug 20 doi: 10.1055/s-0040-1715614. PMID: 32820494
Shneider BL, Moore J, Kerkar N, Magee JC, Ye W, Karpen SJ, Kamath BM, Molleston JP, Bezerra JA, Murray KF, Loomes KM, Whitington PF, Rosenthal P, Squires RH, Guthery SL, Arnon R, Schwarz KB, Turmelle YP, Sherker AH, Sokol RJ; Childhood Liver Disease Research Network
PLoS One 2017;12(5):e0176275. Epub 2017 May 11 doi: 10.1371/journal.pone.0176275. PMID: 28493866Free PMC Article
De La Cruz MS, Young AP, Ruffin MT
Am Fam Physician 2014 Apr 15;89(8):626-32. PMID: 24784121
Nordin N, Alex G, Clarnette T, Stephens N, Oliver M
J Paediatr Child Health 2012 Aug;48(8):705-9. Epub 2012 Apr 12 doi: 10.1111/j.1440-1754.2012.02452.x. PMID: 22497643

Prognosis

Angelico R, Liccardo D, Paoletti M, Pietrobattista A, Basso MS, Mosca A, Safarikia S, Grimaldi C, Saffioti MC, Candusso M, Maggiore G, Spada M
J Med Screen 2021 Sep;28(3):230-237. Epub 2020 Nov 26 doi: 10.1177/0969141320974413. PMID: 33241758
Hoshino E, Hayashi K, Suzuki M, Obatake M, Urayama KY, Nakano S, Taura Y, Nio M, Takahashi O
Pediatr Surg Int 2017 Oct;33(10):1115-1121. Epub 2017 Aug 17 doi: 10.1007/s00383-017-4146-8. PMID: 28819683
Franciscovich A, Vaidya D, Doyle J, Bolinger J, Capdevila M, Rice M, Hancock L, Mahr T, Mogul DB
PLoS One 2015;10(7):e0132270. Epub 2015 Jul 29 doi: 10.1371/journal.pone.0132270. PMID: 26221719Free PMC Article
De Bruyne R, Van Biervliet S, Vande Velde S, Van Winckel M
Eur J Pediatr 2011 Mar;170(3):279-84. Epub 2011 Jan 20 doi: 10.1007/s00431-010-1363-8. PMID: 21249394
Davenport M
Indian J Pediatr 2006 Sep;73(9):825-8. doi: 10.1007/BF02790394. PMID: 17006043

Clinical prediction guides

Angelico R, Liccardo D, Paoletti M, Pietrobattista A, Basso MS, Mosca A, Safarikia S, Grimaldi C, Saffioti MC, Candusso M, Maggiore G, Spada M
J Med Screen 2021 Sep;28(3):230-237. Epub 2020 Nov 26 doi: 10.1177/0969141320974413. PMID: 33241758
Hoshino E, Hayashi K, Suzuki M, Obatake M, Urayama KY, Nakano S, Taura Y, Nio M, Takahashi O
Pediatr Surg Int 2017 Oct;33(10):1115-1121. Epub 2017 Aug 17 doi: 10.1007/s00383-017-4146-8. PMID: 28819683
Franciscovich A, Vaidya D, Doyle J, Bolinger J, Capdevila M, Rice M, Hancock L, Mahr T, Mogul DB
PLoS One 2015;10(7):e0132270. Epub 2015 Jul 29 doi: 10.1371/journal.pone.0132270. PMID: 26221719Free PMC Article
De La Cruz MS, Young AP, Ruffin MT
Am Fam Physician 2014 Apr 15;89(8):626-32. PMID: 24784121
Lee WS, Chai PF
Ann Acad Med Singap 2010 Aug;39(8):648-54. PMID: 20838708

Recent systematic reviews

Napolitano M, Franchi-Abella S, Damasio MB, Augdal TA, Avni FE, Bruno C, Darge K, Ključevšek D, Littooij AS, Lobo L, Mentzel HJ, Riccabona M, Stafrace S, Toso S, Woźniak MM, Di Leo G, Sardanelli F, Ording Müller LS, Petit P
Pediatr Radiol 2021 Feb;51(2):314-331. Epub 2020 Nov 17 doi: 10.1007/s00247-020-04840-9. PMID: 33201318

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