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Dependency on parenteral nutrition

MedGen UID:
1814107
Concept ID:
C5558370
Finding
HPO: HP:0033994

Definition

Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDependency on parenteral nutrition

Conditions with this feature

Congenital secretory sodium diarrhea 8
MedGen UID:
1783137
Concept ID:
C5441928
Disease or Syndrome
Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene.
Diarrhea 12, with microvillus atrophy
MedGen UID:
1794152
Concept ID:
C5561942
Disease or Syndrome
Microvillus inclusion disease (DIAR12) is a congenital enteropathy characterized by neonatal-onset intractable secretory diarrhea, resulting in severe dehydration and metabolic acidosis. Patients may tolerate limited enteral feeding, but are dependent on total parenteral nutrition (TPN) and require eventual small bowel and/or liver transplantation. Pathologic hallmarks include variable loss of brush-border microvilli, microvillus inclusions, and accumulation of subapical vesicles in villus enterocytes (summary by Wiegerinck et al., 2014). Another form of microvillus inclusion disease, MVID1 (DIAR2; 251850), is caused by mutation in the MYO5B gene (606540). For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700). Mutations in the STX3 gene that affect only isoform A (STX3A) cause DIAR12, whereas mutations in STX3 affecting both STX3A and isoform B (STX3B), which predominates in retinal tissue, cause a syndrome involving severe early-onset retinal dystrophy and MVID (RDMVID; 619446).
Liver disease, severe congenital
MedGen UID:
1823968
Concept ID:
C5774195
Disease or Syndrome
Severe congenital liver disease (SCOLIV) is an autosomal recessive disorder characterized by the onset of progressive hepatic dysfunction usually in the first years of life. Affected individuals show feeding difficulties with failure to thrive and features such as jaundice, hepatomegaly, and abdominal distension. Laboratory workup is consistent with hepatic insufficiency and may also show coagulation defects, anemia, or metabolic disturbances. Cirrhosis and hypernodularity are commonly observed on liver biopsy. Many patients die of liver failure in early childhood (Moreno Traspas et al., 2022).

Professional guidelines

PubMed

Seidner DL, Schwartz LK, Winkler MF, Jeejeebhoy K, Boullata JI, Tappenden KA
JPEN J Parenter Enteral Nutr 2013 Mar;37(2):201-11. Epub 2013 Jan 23 doi: 10.1177/0148607112472906. PMID: 23343999

Recent clinical studies

Etiology

Thomas-Rüddel DO, Schlattmann P, Pletz M, Kurzai O, Bloos F
Chest 2022 Feb;161(2):345-355. Epub 2021 Oct 18 doi: 10.1016/j.chest.2021.08.081. PMID: 34673022Free PMC Article
Danford CJ, Lin SC, Smith MP, Wolf JL
World J Gastroenterol 2018 Jul 28;24(28):3101-3111. doi: 10.3748/wjg.v24.i28.3101. PMID: 30065556Free PMC Article
Billiauws L, Maggiori L, Joly F, Panis Y
J Visc Surg 2018 Sep;155(4):283-291. Epub 2018 Jul 21 doi: 10.1016/j.jviscsurg.2017.12.012. PMID: 30041905
Raman M, Almutairdi A, Mulesa L, Alberda C, Beattie C, Gramlich L
Nutrients 2017 Apr 14;9(4) doi: 10.3390/nu9040388. PMID: 28420095Free PMC Article
Fivez T, Kerklaan D, Mesotten D, Verbruggen S, Wouters PJ, Vanhorebeek I, Debaveye Y, Vlasselaers D, Desmet L, Casaer MP, Garcia Guerra G, Hanot J, Joffe A, Tibboel D, Joosten K, Van den Berghe G
N Engl J Med 2016 Mar 24;374(12):1111-22. Epub 2016 Mar 15 doi: 10.1056/NEJMoa1514762. PMID: 26975590

Diagnosis

Luca AC, Miron IC, Mîndru DE, Curpăn AȘ, Stan RC, Țarcă E, Luca FA, Pădureț AI
Nutrients 2022 Apr 17;14(8) doi: 10.3390/nu14081671. PMID: 35458233Free PMC Article
Vanhorebeek I, Latronico N, Van den Berghe G
Intensive Care Med 2020 Apr;46(4):637-653. Epub 2020 Feb 19 doi: 10.1007/s00134-020-05944-4. PMID: 32076765Free PMC Article
Danford CJ, Lin SC, Smith MP, Wolf JL
World J Gastroenterol 2018 Jul 28;24(28):3101-3111. doi: 10.3748/wjg.v24.i28.3101. PMID: 30065556Free PMC Article
Billiauws L, Maggiori L, Joly F, Panis Y
J Visc Surg 2018 Sep;155(4):283-291. Epub 2018 Jul 21 doi: 10.1016/j.jviscsurg.2017.12.012. PMID: 30041905
Green R, Allen LH, Bjørke-Monsen AL, Brito A, Guéant JL, Miller JW, Molloy AM, Nexo E, Stabler S, Toh BH, Ueland PM, Yajnik C
Nat Rev Dis Primers 2017 Jun 29;3:17040. doi: 10.1038/nrdp.2017.40. PMID: 28660890

Therapy

Fostier R, Arvanitakis M, Gkolfakis P
Curr Opin Clin Nutr Metab Care 2022 Sep 1;25(5):325-328. Epub 2022 Jul 5 doi: 10.1097/MCO.0000000000000851. PMID: 35787593
Aksan A, Farrag K, Blumenstein I, Schröder O, Dignass AU, Stein J
World J Gastroenterol 2021 Jun 28;27(24):3440-3465. doi: 10.3748/wjg.v27.i24.3440. PMID: 34239262Free PMC Article
Massironi S, Cavalcoli F, Rausa E, Invernizzi P, Braga M, Vecchi M
Dig Liver Dis 2020 Mar;52(3):253-261. Epub 2019 Dec 28 doi: 10.1016/j.dld.2019.11.013. PMID: 31892505
Billiauws L, Maggiori L, Joly F, Panis Y
J Visc Surg 2018 Sep;155(4):283-291. Epub 2018 Jul 21 doi: 10.1016/j.jviscsurg.2017.12.012. PMID: 30041905
Abunnaja S, Cuviello A, Sanchez JA
Nutrients 2013 Feb 21;5(2):608-23. doi: 10.3390/nu5020608. PMID: 23429491Free PMC Article

Prognosis

Caporilli C, Giannì G, Grassi F, Esposito S
Nutrients 2023 May 17;15(10) doi: 10.3390/nu15102341. PMID: 37242224Free PMC Article
Gunst J, Casaer MP, Preiser JC, Reignier J, Van den Berghe G
Crit Care 2023 Jan 27;27(1):43. doi: 10.1186/s13054-023-04317-9. PMID: 36707883Free PMC Article
Luca AC, Miron IC, Mîndru DE, Curpăn AȘ, Stan RC, Țarcă E, Luca FA, Pădureț AI
Nutrients 2022 Apr 17;14(8) doi: 10.3390/nu14081671. PMID: 35458233Free PMC Article
Bioletto F, D'Eusebio C, Merlo FD, Aimasso U, Ossola M, Pellegrini M, Ponzo V, Chiarotto A, De Francesco A, Ghigo E, Bo S
Nutrients 2022 Feb 14;14(4) doi: 10.3390/nu14040796. PMID: 35215445Free PMC Article
Besselink MG, van Rijssen LB, Bassi C, Dervenis C, Montorsi M, Adham M, Asbun HJ, Bockhorn M, Strobel O, Büchler MW, Busch OR, Charnley RM, Conlon KC, Fernández-Cruz L, Fingerhut A, Friess H, Izbicki JR, Lillemoe KD, Neoptolemos JP, Sarr MG, Shrikhande SV, Sitarz R, Vollmer CM, Yeo CJ, Hartwig W, Wolfgang CL, Gouma DJ; International Study Group on Pancreatic Surgery
Surgery 2017 Feb;161(2):365-372. Epub 2016 Sep 28 doi: 10.1016/j.surg.2016.06.058. PMID: 27692778

Clinical prediction guides

Gunst J, Casaer MP, Preiser JC, Reignier J, Van den Berghe G
Crit Care 2023 Jan 27;27(1):43. doi: 10.1186/s13054-023-04317-9. PMID: 36707883Free PMC Article
Bioletto F, D'Eusebio C, Merlo FD, Aimasso U, Ossola M, Pellegrini M, Ponzo V, Chiarotto A, De Francesco A, Ghigo E, Bo S
Nutrients 2022 Feb 14;14(4) doi: 10.3390/nu14040796. PMID: 35215445Free PMC Article
Rubin DC, Levin MS
Best Pract Res Clin Gastroenterol 2016 Apr;30(2):237-48. Epub 2016 Mar 16 doi: 10.1016/j.bpg.2016.03.007. PMID: 27086888Free PMC Article
Flodgren G, Rachas A, Farmer AJ, Inzitari M, Shepperd S
Cochrane Database Syst Rev 2015 Sep 7;2015(9):CD002098. doi: 10.1002/14651858.CD002098.pub2. PMID: 26343551Free PMC Article
Fabre A, Martinez-Vinson C, Goulet O, Badens C
Orphanet J Rare Dis 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. PMID: 23302111Free PMC Article

Recent systematic reviews

Cotogni P, Shaw C, Jimenez-Fonseca P, Partridge D, Pritchett D, Webb N, Crompton A, Garcia-Lorda P, Shepelev J
Support Care Cancer 2023 Dec 22;32(1):52. doi: 10.1007/s00520-023-08218-z. PMID: 38129578Free PMC Article
Bioletto F, D'Eusebio C, Merlo FD, Aimasso U, Ossola M, Pellegrini M, Ponzo V, Chiarotto A, De Francesco A, Ghigo E, Bo S
Nutrients 2022 Feb 14;14(4) doi: 10.3390/nu14040796. PMID: 35215445Free PMC Article
Thomas-Rüddel DO, Schlattmann P, Pletz M, Kurzai O, Bloos F
Chest 2022 Feb;161(2):345-355. Epub 2021 Oct 18 doi: 10.1016/j.chest.2021.08.081. PMID: 34673022Free PMC Article
Flodgren G, Rachas A, Farmer AJ, Inzitari M, Shepperd S
Cochrane Database Syst Rev 2015 Sep 7;2015(9):CD002098. doi: 10.1002/14651858.CD002098.pub2. PMID: 26343551Free PMC Article
Willhite CC, Karyakina NA, Yokel RA, Yenugadhati N, Wisniewski TM, Arnold IM, Momoli F, Krewski D
Crit Rev Toxicol 2014 Oct;44 Suppl 4(Suppl 4):1-80. doi: 10.3109/10408444.2014.934439. PMID: 25233067Free PMC Article

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