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Hepatorenocardiac degenerative fibrosis(HRCDF)

MedGen UID:
1808950
Concept ID:
C5676996
Disease or Syndrome
Synonyms: HEPATORENOCARDIAC DEGENERATIVE FIBROSIS; HRCDF
 
Gene (location): TULP3 (12p13.33)
 
Monarch Initiative: MONDO:0859254
OMIM®: 619902

Definition

Hepatorenocardiac degenerative fibrosis (HRCDF) is a primarily fibrotic disease affecting the liver, kidney, and heart, with considerable variability in disease onset and expression. Affected individuals develop degenerative hepatic fibrosis in childhood or early adulthood, with variable later onset of fibrocystic kidney disease and hypertrophic cardiomyopathy (Devane et al., 2022). [from OMIM]

Clinical features

From HPO
Renal interstitial fibrosis
MedGen UID:
68628
Concept ID:
C0235989
Disease or Syndrome
The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic.
Enlarged kidney
MedGen UID:
108156
Concept ID:
C0542518
Finding
An abnormal increase in the size of the kidney.
Hyperechogenic kidneys
MedGen UID:
477530
Concept ID:
C3275899
Finding
An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.
Reduced renal corticomedullary differentiation
MedGen UID:
813461
Concept ID:
C3807131
Finding
Reduced differentiation between renal cortex and medulla on diagnostic imaging.
Renal cyst
MedGen UID:
854361
Concept ID:
C3887499
Disease or Syndrome
A fluid filled sac in the kidney.
Tubular luminal dilatation
MedGen UID:
1714243
Concept ID:
C5397640
Finding
Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen.
Hypertrophic cardiomyopathy
MedGen UID:
2881
Concept ID:
C0007194
Disease or Syndrome
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Portal hypertension
MedGen UID:
9375
Concept ID:
C0020541
Disease or Syndrome
Increased pressure in the portal vein.
Hepatosplenomegaly
MedGen UID:
9225
Concept ID:
C0019214
Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Cirrhosis of liver
MedGen UID:
7368
Concept ID:
C0023890
Disease or Syndrome
A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
Hepatocellular carcinoma
MedGen UID:
389187
Concept ID:
C2239176
Neoplastic Process
Hepatocellular carcinoma is the major histologic type of malignant primary liver neoplasm. It is the fifth most common cancer and the third most common cause of death from cancer worldwide. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. Hepatoblastomas comprise 1 to 2% of all malignant neoplasms of childhood, most often occurring in children under 3 years of age. Hepatoblastomas are thought to be derived from undifferentiated hepatocytes (Taniguchi et al., 2002).
Hepatic bridging fibrosis
MedGen UID:
868315
Concept ID:
C4022709
Disease or Syndrome
Hepatic fibrosis that reaches from a portal area to another portal area.
Hepatic encephalopathy
MedGen UID:
5513
Concept ID:
C0019151
Disease or Syndrome
Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes.
Hypersplenism
MedGen UID:
9372
Concept ID:
C0020532
Disease or Syndrome
A malfunctioning of the spleen in which it prematurely destroys red blood cells.
Elevated hepatic transaminase
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.

Professional guidelines

PubMed

Rodriguez-Merchan EC, De La Corte-Rodriguez H, Roman-Belmonte JM
Postgrad Med 2020 Jan;132(1):66-71. Epub 2019 Aug 28 doi: 10.1080/00325481.2019.1654836. PMID: 31461382
Shieh PB
Neurotherapeutics 2018 Oct;15(4):840-848. doi: 10.1007/s13311-018-00687-z. PMID: 30414046Free PMC Article
Zav'yalov DM, Peretechikov AV
Zh Vopr Neirokhir Im N N Burdenko 2016;80(6):115-117. doi: 10.17116/neiro2016806115-117. PMID: 28635773

Recent clinical studies

Etiology

Manoj P, Kim JA, Kim S, Li T, Sewani M, Chelu MG, Li N
Am J Physiol Heart Circ Physiol 2023 Mar 1;324(3):H259-H278. Epub 2022 Dec 23 doi: 10.1152/ajpheart.00618.2022. PMID: 36563014Free PMC Article
Ajmone Marsan N, Delgado V, Shah DJ, Pellikka P, Bax JJ, Treibel T, Cavalcante JL
Eur Heart J 2023 Jan 1;44(1):28-40. doi: 10.1093/eurheartj/ehac504. PMID: 36167923Free PMC Article
Si S, Li J, Tewara MA, Xue F
Front Immunol 2021;12:720876. Epub 2021 Jul 27 doi: 10.3389/fimmu.2021.720876. PMID: 34386016Free PMC Article
McNally EJ, Luncsford PJ, Armanios M
J Clin Invest 2019 Aug 5;129(9):3474-3481. doi: 10.1172/JCI120851. PMID: 31380804Free PMC Article
LaRoche GR
Curr Opin Ophthalmol 1999 Oct;10(5):310-3. doi: 10.1097/00055735-199910000-00005. PMID: 10621543

Diagnosis

Ajmone Marsan N, Delgado V, Shah DJ, Pellikka P, Bax JJ, Treibel T, Cavalcante JL
Eur Heart J 2023 Jan 1;44(1):28-40. doi: 10.1093/eurheartj/ehac504. PMID: 36167923Free PMC Article
Si S, Li J, Tewara MA, Xue F
Front Immunol 2021;12:720876. Epub 2021 Jul 27 doi: 10.3389/fimmu.2021.720876. PMID: 34386016Free PMC Article
Hawks MK, Paul MLB, Malu OO
Am Fam Physician 2021 Aug 1;104(2):179-185. PMID: 34383451
Cianciolo RE, Benali SL, Aresu L
Vet Pathol 2016 Mar;53(2):299-308. Epub 2015 Oct 27 doi: 10.1177/0300985815612153. PMID: 26508694
Semelka M, Gera J, Usman S
Am Fam Physician 2013 May 15;87(10):691-6. PMID: 23939447

Therapy

Si S, Li J, Tewara MA, Xue F
Front Immunol 2021;12:720876. Epub 2021 Jul 27 doi: 10.3389/fimmu.2021.720876. PMID: 34386016Free PMC Article
Toto L, Di Antonio L, Costantino O, Mastropasqua R
Curr Drug Targets 2021;22(9):1054-1063. doi: 10.2174/1389450122999210128180725. PMID: 33511955
Potter RA, Griffin DA, Heller KN, Peterson EL, Clark EK, Mendell JR, Rodino-Klapac LR
Hum Gene Ther 2021 Apr;32(7-8):375-389. Epub 2021 Feb 18 doi: 10.1089/hum.2019.255. PMID: 33397205Free PMC Article
Anitua E, Padilla S
Regen Med 2018 Jan;13(1):55-72. Epub 2018 Jan 22 doi: 10.2217/rme-2017-0111. PMID: 29355455
Sosa Peña MDP, Lopez-Soler R, Melendez JA
Am J Physiol Renal Physiol 2018 Oct 1;315(4):F880-F889. Epub 2016 Jun 15 doi: 10.1152/ajprenal.00195.2016. PMID: 27306980

Prognosis

Zhao Q, Liang L, Zhai F, Ling G, Xiang R, Jiang X
J Gastroenterol Hepatol 2023 Mar;38(3):359-369. Epub 2022 Dec 12 doi: 10.1111/jgh.16081. PMID: 36459993
Ajmone Marsan N, Delgado V, Shah DJ, Pellikka P, Bax JJ, Treibel T, Cavalcante JL
Eur Heart J 2023 Jan 1;44(1):28-40. doi: 10.1093/eurheartj/ehac504. PMID: 36167923Free PMC Article
Hawks MK, Paul MLB, Malu OO
Am Fam Physician 2021 Aug 1;104(2):179-185. PMID: 34383451
Toto L, Di Antonio L, Costantino O, Mastropasqua R
Curr Drug Targets 2021;22(9):1054-1063. doi: 10.2174/1389450122999210128180725. PMID: 33511955
Katsi V, Magkas N, Antonopoulos A, Trantalis G, Toutouzas K, Tousoulis D
Acta Cardiol 2021 Jun;76(4):335-348. Epub 2020 Jun 30 doi: 10.1080/00015385.2020.1746053. PMID: 32602774

Clinical prediction guides

Paidas MJ, Cosio DS, Ali S, Kenyon NS, Jayakumar AR
Mol Neurobiol 2022 Oct;59(10):5970-5986. Epub 2022 Jul 13 doi: 10.1007/s12035-022-02932-1. PMID: 35831558Free PMC Article
Si S, Li J, Tewara MA, Xue F
Front Immunol 2021;12:720876. Epub 2021 Jul 27 doi: 10.3389/fimmu.2021.720876. PMID: 34386016Free PMC Article
Hawks MK, Paul MLB, Malu OO
Am Fam Physician 2021 Aug 1;104(2):179-185. PMID: 34383451
Potter RA, Griffin DA, Heller KN, Peterson EL, Clark EK, Mendell JR, Rodino-Klapac LR
Hum Gene Ther 2021 Apr;32(7-8):375-389. Epub 2021 Feb 18 doi: 10.1089/hum.2019.255. PMID: 33397205Free PMC Article
McNally EJ, Luncsford PJ, Armanios M
J Clin Invest 2019 Aug 5;129(9):3474-3481. doi: 10.1172/JCI120851. PMID: 31380804Free PMC Article

Recent systematic reviews

Bentestuen M, Al-Obaydi N, Zacho HD
Semin Nucl Med 2023 Sep;53(5):694-705. Epub 2023 Feb 20 doi: 10.1053/j.semnuclmed.2023.02.001. PMID: 36813670
Brunelli MJ, Atallah ÁN, da Silva EM
Cochrane Database Syst Rev 2021 Sep 17;9(9):CD009806. doi: 10.1002/14651858.CD009806.pub3. PMID: 34533215Free PMC Article
Stevens S, Agten A, Timmermans A, Vandenabeele F
Spine J 2020 Oct;20(10):1573-1585. Epub 2020 Apr 20 doi: 10.1016/j.spinee.2020.04.007. PMID: 32325246
Brunelli MJ, Atallah ÁN, da Silva EM
Cochrane Database Syst Rev 2016 Mar 4;3:CD009806. doi: 10.1002/14651858.CD009806.pub2. PMID: 26943923
Ahmadi O, McCall JL, Stringer MD
ANZ J Surg 2013 Sep;83(9):612-8. Epub 2013 Jan 25 doi: 10.1111/ans.12067. PMID: 23347421

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