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Renal tubulopathy-encephalopathy-liver failure syndrome

MedGen UID:
900319
Concept ID:
C4274075
Disease or Syndrome
Synonyms: Renal tubulopathy with encephalopathy and liver failure syndrome; renal tubulopathy-encephalopathy-liver failure syndrome
SNOMED CT: Renal tubulopathy with encephalopathy and liver failure syndrome (717053007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0016811
Orphanet: ORPHA254902

Definition

Describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders. The prevalence is unknown, several cases have been described, presentation is variable. Most of the characteristics of GRACILE syndrome are present but they are often less severe. Signs of disturbances in iron metabolism have been described. Most infants die during the neonatal period. In those who survive, encephalopathy and psychiatric disorders have been described. This disease is due to different mutations in the BCS1L gene (2q35) encoding a protein essential in the assembly of complex III in the mitochondrial respiratory chain. Inherited autosomal recessively. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRenal tubulopathy-encephalopathy-liver failure syndrome

Professional guidelines

PubMed

Triplett JD, Kutlubaev MA, Kermode AG, Hardy T
Pract Neurol 2022 Jun;22(3):183-189. Epub 2022 Jan 19 doi: 10.1136/practneurol-2021-003194. PMID: 35046115
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Am J Kidney Dis 2020 Feb;75(2):272-286. Epub 2019 Oct 10 doi: 10.1053/j.ajkd.2019.07.014. PMID: 31606238
Committee on Practice Bulletins-Obstetrics
Obstet Gynecol 2017 Oct;130(4):e168-e186. doi: 10.1097/AOG.0000000000002351. PMID: 28937571

Recent clinical studies

Etiology

Ricci Z, Romagnoli S, Ronco C
Crit Care Clin 2021 Apr;37(2):335-347. Epub 2021 Feb 13 doi: 10.1016/j.ccc.2020.11.003. PMID: 33752859
Zannad F, Rossignol P
Circulation 2018 Aug 28;138(9):929-944. doi: 10.1161/CIRCULATIONAHA.117.028814. PMID: 30354446
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Nat Rev Dis Primers 2016 Jun 9;2:16041. doi: 10.1038/nrdp.2016.41. PMID: 27277335
Khan FY
Neth J Med 2009 Oct;67(9):272-83. PMID: 19841484
Ronco C, Haapio M, House AA, Anavekar N, Bellomo R
J Am Coll Cardiol 2008 Nov 4;52(19):1527-39. doi: 10.1016/j.jacc.2008.07.051. PMID: 19007588

Diagnosis

Farkas JD, Long B, Koyfman A, Menson K
J Emerg Med 2020 Aug;59(2):216-223. Epub 2020 Jun 18 doi: 10.1016/j.jemermed.2020.05.001. PMID: 32565167
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Khan FY
Neth J Med 2009 Oct;67(9):272-83. PMID: 19841484
Ronco C, Haapio M, House AA, Anavekar N, Bellomo R
J Am Coll Cardiol 2008 Nov 4;52(19):1527-39. doi: 10.1016/j.jacc.2008.07.051. PMID: 19007588

Therapy

Combes A, Peek GJ, Hajage D, Hardy P, Abrams D, Schmidt M, Dechartres A, Elbourne D
Intensive Care Med 2020 Nov;46(11):2048-2057. Epub 2020 Oct 6 doi: 10.1007/s00134-020-06248-3. PMID: 33021684Free PMC Article
Jain N, Reilly RF
Curr Opin Nephrol Hypertens 2017 Jul;26(4):250-255. doi: 10.1097/MNH.0000000000000327. PMID: 28375869
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Prognosis

Chung EYM, Palmer SC, Natale P, Krishnan A, Cooper TE, Saglimbene VM, Ruospo M, Au E, Jayanti S, Liang A, Jie Deng DJ, Chui J, Higgins GY, Tong A, Wong G, Teixeira-Pinto A, Hodson EM, Craig JC, Strippoli GFM
Am J Kidney Dis 2021 Dec;78(6):804-815. Epub 2021 Aug 5 doi: 10.1053/j.ajkd.2021.07.003. PMID: 34364906Free PMC Article
Hrušková Z, Tesař V
Vnitr Lek 2020 Spring;66(5):56-61. PMID: 32942871
Ronco C, Haapio M, House AA, Anavekar N, Bellomo R
J Am Coll Cardiol 2008 Nov 4;52(19):1527-39. doi: 10.1016/j.jacc.2008.07.051. PMID: 19007588
Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554
Jeremias A, Gibson CM
Ann Intern Med 2005 May 3;142(9):786-91. doi: 10.7326/0003-4819-142-9-200505030-00015. PMID: 15867411

Clinical prediction guides

Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F
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Miller WL
Circ Heart Fail 2016 Aug;9(8):e002922. doi: 10.1161/CIRCHEARTFAILURE.115.002922. PMID: 27436837
Møller S, Bendtsen F
Dig Dis Sci 2015 Nov;60(11):3209-25. Epub 2015 Jun 26 doi: 10.1007/s10620-015-3752-3. PMID: 26112989
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McMahon GM, Zeng X, Waikar SS
JAMA Intern Med 2013 Oct 28;173(19):1821-8. doi: 10.1001/jamainternmed.2013.9774. PMID: 24000014Free PMC Article

Recent systematic reviews

Vardavas CI, Mathioudakis AG, Nikitara K, Stamatelopoulos K, Georgiopoulos G, Phalkey R, Leonardi-Bee J, Fernandez E, Carnicer-Pont D, Vestbo J, Semenza JC, Deogan C, Suk JE, Kramarz P, Lamb F, Penttinen P
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Cochrane Database Syst Rev 2022 Mar 11;3(3):CD013130. doi: 10.1002/14651858.CD013130.pub2. PMID: 35274741Free PMC Article
Vandael E, Vandenberk B, Vandenberghe J, Willems R, Foulon V
Int J Clin Pharm 2017 Feb;39(1):16-25. Epub 2016 Dec 23 doi: 10.1007/s11096-016-0414-2. PMID: 28012118
Thomas ME, Blaine C, Dawnay A, Devonald MA, Ftouh S, Laing C, Latchem S, Lewington A, Milford DV, Ostermann M
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Ronco C, McCullough P, Anker SD, Anand I, Aspromonte N, Bagshaw SM, Bellomo R, Berl T, Bobek I, Cruz DN, Daliento L, Davenport A, Haapio M, Hillege H, House AA, Katz N, Maisel A, Mankad S, Zanco P, Mebazaa A, Palazzuoli A, Ronco F, Shaw A, Sheinfeld G, Soni S, Vescovo G, Zamperetti N, Ponikowski P; Acute Dialysis Quality Initiative (ADQI) consensus group
Eur Heart J 2010 Mar;31(6):703-11. Epub 2009 Dec 25 doi: 10.1093/eurheartj/ehp507. PMID: 20037146Free PMC Article

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