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Liver disease, severe congenital(SCOLIV)

MedGen UID:
1823968
Concept ID:
C5774195
Disease or Syndrome
Synonyms: FOCAD DEFICIENCY; SCOLIV
 
Gene (location): FOCAD (9p21.3)
 
Monarch Initiative: MONDO:0859273
OMIM®: 619991

Definition

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). [from OMIM]

Clinical features

From HPO
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Aminoaciduria
MedGen UID:
116067
Concept ID:
C0238621
Disease or Syndrome
An increased concentration of an amino acid in the urine.
Recurrent urinary tract infections
MedGen UID:
120466
Concept ID:
C0262655
Disease or Syndrome
Repeated infections of the urinary tract.
Hypospadias
MedGen UID:
163083
Concept ID:
C0848558
Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Hydrocele testis
MedGen UID:
318568
Concept ID:
C1720771
Congenital Abnormality
Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.
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.
Alpha-aminobutyric aciduria
MedGen UID:
1692971
Concept ID:
C5139100
Disease or Syndrome
Increased amount of alpha-aminobutyric acid in the urine.
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Patent foramen ovale
MedGen UID:
8891
Concept ID:
C0016522
Congenital Abnormality
Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.
Cardiomegaly
MedGen UID:
5459
Concept ID:
C0018800
Finding
Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Systolic heart murmur
MedGen UID:
115909
Concept ID:
C0232257
Finding
A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2.
Left atrial enlargement
MedGen UID:
536845
Concept ID:
C0238705
Finding
Increase in size of the left atrium.
Abnormal left ventricular function
MedGen UID:
69237
Concept ID:
C0242698
Pathologic Function
Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.
Subvalvular aortic stenosis
MedGen UID:
90950
Concept ID:
C0340375
Disease or Syndrome
A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.
Dilatation of the ventricular cavity
MedGen UID:
1393082
Concept ID:
C4476545
Anatomical Abnormality
A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
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.
Abdominal distention
MedGen UID:
34
Concept ID:
C0000731
Finding
Distention of the abdomen.
Ascites
MedGen UID:
416
Concept ID:
C0003962
Disease or Syndrome
Accumulation of fluid in the peritoneal cavity.
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.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
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.
Protein-losing enteropathy
MedGen UID:
19522
Concept ID:
C0033680
Disease or Syndrome
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) is characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption. Some patients also exhibit bowel inflammation, recurrent infections associated with hypogammaglobulinemia, and/or angiopathic thromboembolic disease. Patient T lymphocytes show increased complement activation, causing surface deposition of complement and generating soluble C5a (Ozen et al., 2017).
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Liver failure
MedGen UID:
88444
Concept ID:
C0085605
Disease or Syndrome
A disorder characterized by the inability of the liver to metabolize chemicals in the body. Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.
Chronic gastritis
MedGen UID:
39089
Concept ID:
C0085695
Disease or Syndrome
A chronic form of gastritis.
Malnutrition
MedGen UID:
56429
Concept ID:
C0162429
Disease or Syndrome
A deficiency in the intake of energy and nutrients.
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Pancreatic hypoplasia
MedGen UID:
539808
Concept ID:
C0266267
Congenital Abnormality
Hypoplasia of the pancreas.
Exocrine pancreatic insufficiency
MedGen UID:
75647
Concept ID:
C0267963
Disease or Syndrome
Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
Increased hepatic glycogen content
MedGen UID:
344698
Concept ID:
C1856285
Finding
An increase in the amount of glycogen stored in hepatocytes compared to normal.
Hepatic steatosis
MedGen UID:
398225
Concept ID:
C2711227
Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
Portal inflammation
MedGen UID:
412612
Concept ID:
C2748698
Pathologic Function
Infiltration of portal fields by inflammatory cells.
Biliary hyperplasia
MedGen UID:
892498
Concept ID:
C3686778
Disease or Syndrome
Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia.
Elevated hepatic iron concentration
MedGen UID:
868497
Concept ID:
C4022891
Finding
An increased level of iron in liver tissues.
Abnormal hepatic echogenicity
MedGen UID:
1378149
Concept ID:
C4477001
Finding
Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen).
Ballooning hepatocyte degeneration
MedGen UID:
1743374
Concept ID:
C5421675
Cell or Molecular Dysfunction
Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarefied, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62.
Dependency on parenteral nutrition
MedGen UID:
1814107
Concept ID:
C5558370
Finding
Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition.
Cholesteatoma
MedGen UID:
3043
Concept ID:
C0008373
Disease or Syndrome
Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.
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.
Short attention span
MedGen UID:
82652
Concept ID:
C0262630
Finding
Reduced attention span characterized by distractibility and impulsivity.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Inappropriate crying
MedGen UID:
810697
Concept ID:
C0860609
Sign or Symptom
Uncontrolled episodes of crying occur without any apparent motivating stimuli.
Poor fine motor coordination
MedGen UID:
356863
Concept ID:
C1867864
Finding
An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes.
Irritability
MedGen UID:
397841
Concept ID:
C2700617
Mental Process
A proneness to anger, i.e., a tendency to become easily bothered or annoyed.
Delayed CNS myelination
MedGen UID:
867393
Concept ID:
C4021758
Anatomical Abnormality
Delayed myelination in the central nervous system.
Neurodevelopmental delay
MedGen UID:
868344
Concept ID:
C4022738
Finding
Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.
Elevated brain N-acetyl aspartate level by MRS
MedGen UID:
1369723
Concept ID:
C4476572
Finding
An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Abnormality of coagulation
MedGen UID:
375979
Concept ID:
C1846821
Finding
An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Macrocephaly at birth
MedGen UID:
322956
Concept ID:
C1836599
Finding
The presence of an abnormally large skull with onset at birth.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Plagiocephaly
MedGen UID:
1825944
Concept ID:
C2081594
Finding
Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.
Cough
MedGen UID:
41325
Concept ID:
C0010200
Sign or Symptom
A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
Pulmonary edema
MedGen UID:
11026
Concept ID:
C0034063
Pathologic Function
Fluid accumulation in the lungs.
Eczematoid dermatitis
MedGen UID:
3968
Concept ID:
C0013595
Disease or Syndrome
Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.
Leukopenia
MedGen UID:
6073
Concept ID:
C0023530
Disease or Syndrome
An abnormal decreased number of leukocytes in the blood.
Lymphocytosis
MedGen UID:
9834
Concept ID:
C0024282
Disease or Syndrome
Increase in the number or proportion of lymphocytes in the blood.
Peritonitis
MedGen UID:
14697
Concept ID:
C0031154
Pathologic Function
Inflammation of the peritoneum.
Pneumonia
MedGen UID:
10813
Concept ID:
C0032285
Disease or Syndrome
Inflammation of any part of the lung parenchyma.
Sepsis
MedGen UID:
48626
Concept ID:
C0036690
Disease or Syndrome
Systemic inflammatory response to infection.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Status asthmaticus
MedGen UID:
11584
Concept ID:
C0038218
Disease or Syndrome
Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Cow milk allergy
MedGen UID:
1668719
Concept ID:
C4758639
Pathologic Function
Hypersensitivity in form of an adverse immune reaction against cow milk protein.
Hypocalcemia
MedGen UID:
5705
Concept ID:
C0020598
Disease or Syndrome
An abnormally decreased calcium concentration in the blood.
Hyponatremia
MedGen UID:
6984
Concept ID:
C0020625
Finding
An abnormally decreased sodium concentration in the blood.
Reduced circulating vitamin A concentration
MedGen UID:
22668
Concept ID:
C0042842
Disease or Syndrome
Concentration of vitamin A below the lower limit of normal in the blood circulation.
Decreased circulating vitamin D concentration
MedGen UID:
12114
Concept ID:
C0042870
Disease or Syndrome
The concentration of vitamin D in the blood circulation is below the lower limit of normal.
Decreased circulating vitamin E concentration
MedGen UID:
21881
Concept ID:
C0042875
Disease or Syndrome
A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol.
Metabolic acidosis
MedGen UID:
65117
Concept ID:
C0220981
Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
Elevated circulating alpha-fetoprotein concentration
MedGen UID:
65916
Concept ID:
C0235971
Finding
Concentration of alpha-fetoprotein in the blood circulation above the upper limit of normal.
Increased circulating ferritin concentration
MedGen UID:
69130
Concept ID:
C0241013
Finding
Increased concentration of ferritin in the blood circulation.
Hyper-beta-alaninemia
MedGen UID:
75702
Concept ID:
C0268630
Disease or Syndrome
An increased concentration of alanine in the blood.
Hyperbilirubinemia
MedGen UID:
86321
Concept ID:
C0311468
Finding
An increased amount of bilirubin in the blood.
Hypoproteinemia
MedGen UID:
581229
Concept ID:
C0392692
Finding
A decreased concentration of protein in the blood.
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.
Recurrent fever
MedGen UID:
811468
Concept ID:
C3714772
Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.
Hyperammonemia
MedGen UID:
1802066
Concept ID:
C5574662
Laboratory or Test Result
An increased concentration of ammonia in the blood.
High forehead
MedGen UID:
65991
Concept ID:
C0239676
Finding
An abnormally increased height of the forehead.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Triangular face
MedGen UID:
324383
Concept ID:
C1835884
Finding
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Narrow nasal ridge
MedGen UID:
373404
Concept ID:
C1837761
Finding
Decreased width of the nasal ridge.
Blue nevus
MedGen UID:
104930
Concept ID:
C0206736
Neoplastic Process
A solitary, bluish, smooth surfaced macule, papule or plaque that is generally round or oval in shape. The histopathology of blue nevi varies by subtype, but general characteristics include a vertical wedge or bulbous shaped proliferation of spindle cells, dendritic melanocytes, and melanophages into a sclerotic dermis or subcutis.
Nail dystrophy
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Dry hair
MedGen UID:
75809
Concept ID:
C0277960
Finding
Hair that lacks the luster (shine or gleam) of normal hair.
Dermal translucency
MedGen UID:
373141
Concept ID:
C1836646
Finding
An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.
Hyperinsulinemic hypoglycemia
MedGen UID:
351247
Concept ID:
C1864903
Disease or Syndrome
An increased concentration of insulin combined with a decreased concentration of glucose in the blood.
Abnormal circulating thyroid hormone concentration
MedGen UID:
1623921
Concept ID:
C4531077
Finding
Any deviation from the normal range of the hormones produced by the thyroid gland.
Proptosis
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.

Professional guidelines

PubMed

Boyer O, Schaefer F, Haffner D, Bockenhauer D, Hölttä T, Bérody S, Webb H, Heselden M, Lipska-Zie Tkiewicz BS, Ozaltin F, Levtchenko E, Vivarelli M
Nat Rev Nephrol 2021 Apr;17(4):277-289. Epub 2021 Jan 29 doi: 10.1038/s41581-020-00384-1. PMID: 33514942Free PMC Article
Nicloux M, Peterman L, Parodi M, Magny JF
Arch Pediatr 2020 Apr;27(3):160-165. Epub 2020 Feb 29 doi: 10.1016/j.arcped.2020.01.006. PMID: 32127242
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article

Recent clinical studies

Etiology

Verma AK, Sharma A, Subramaniyam N, Gandhi CR
J Hepatol 2022 Nov;77(5):1410-1421. Epub 2022 Jun 28 doi: 10.1016/j.jhep.2022.06.019. PMID: 35777586
Ribas GS, Lopes FF, Deon M, Vargas CR
Cell Mol Neurobiol 2022 Nov;42(8):2593-2610. Epub 2021 Oct 19 doi: 10.1007/s10571-021-01156-6. PMID: 34665389
Boyer O, Schaefer F, Haffner D, Bockenhauer D, Hölttä T, Bérody S, Webb H, Heselden M, Lipska-Zie Tkiewicz BS, Ozaltin F, Levtchenko E, Vivarelli M
Nat Rev Nephrol 2021 Apr;17(4):277-289. Epub 2021 Jan 29 doi: 10.1038/s41581-020-00384-1. PMID: 33514942Free PMC Article
Nicloux M, Peterman L, Parodi M, Magny JF
Arch Pediatr 2020 Apr;27(3):160-165. Epub 2020 Feb 29 doi: 10.1016/j.arcped.2020.01.006. PMID: 32127242
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free PMC Article

Diagnosis

Hasbaoui BE, Rifai Z, Saghir S, Ayad A, Lamalmi N, Abilkassem R, Agadr A
Pan Afr Med J 2021;38:188. Epub 2021 Feb 18 doi: 10.11604/pamj.2021.38.188.27941. PMID: 33995794Free PMC Article
Boyer O, Schaefer F, Haffner D, Bockenhauer D, Hölttä T, Bérody S, Webb H, Heselden M, Lipska-Zie Tkiewicz BS, Ozaltin F, Levtchenko E, Vivarelli M
Nat Rev Nephrol 2021 Apr;17(4):277-289. Epub 2021 Jan 29 doi: 10.1038/s41581-020-00384-1. PMID: 33514942Free PMC Article
Nicloux M, Peterman L, Parodi M, Magny JF
Arch Pediatr 2020 Apr;27(3):160-165. Epub 2020 Feb 29 doi: 10.1016/j.arcped.2020.01.006. PMID: 32127242
Stölzel U, Doss MO, Schuppan D
Gastroenterology 2019 Aug;157(2):365-381.e4. Epub 2019 May 11 doi: 10.1053/j.gastro.2019.04.050. PMID: 31085196
Whitington PF
Semin Liver Dis 2012 Nov;32(4):325-32. Epub 2013 Feb 8 doi: 10.1055/s-0032-1329901. PMID: 23397533

Therapy

Guerrero-Chalela CE, Therrien J, Grossman Y, Guo L, Liu A, Marelli A
J Am Heart Assoc 2023 Oct 3;12(19):e024034. Epub 2023 Sep 30 doi: 10.1161/JAHA.121.024034. PMID: 37776221Free PMC Article
Lubert AM, Alsaied T, Palermo JJ, Anwar N, Urbina EM, Brown NM, Alexander C, Almeneisi H, Wu F, Leventhal AR, Aldweib N, Mendelson M, Opotowsky AR
J Am Heart Assoc 2021 Apr 6;10(7):e019578. Epub 2021 Mar 31 doi: 10.1161/JAHA.120.019578. PMID: 33787283Free PMC Article
Boyer O, Schaefer F, Haffner D, Bockenhauer D, Hölttä T, Bérody S, Webb H, Heselden M, Lipska-Zie Tkiewicz BS, Ozaltin F, Levtchenko E, Vivarelli M
Nat Rev Nephrol 2021 Apr;17(4):277-289. Epub 2021 Jan 29 doi: 10.1038/s41581-020-00384-1. PMID: 33514942Free PMC Article
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article
Rac MW, Revell PA, Eppes CS
Am J Obstet Gynecol 2017 Apr;216(4):352-363. Epub 2016 Dec 9 doi: 10.1016/j.ajog.2016.11.1052. PMID: 27956203

Prognosis

Lubert AM, Alsaied T, Palermo JJ, Anwar N, Urbina EM, Brown NM, Alexander C, Almeneisi H, Wu F, Leventhal AR, Aldweib N, Mendelson M, Opotowsky AR
J Am Heart Assoc 2021 Apr 6;10(7):e019578. Epub 2021 Mar 31 doi: 10.1161/JAHA.120.019578. PMID: 33787283Free PMC Article
Nicloux M, Peterman L, Parodi M, Magny JF
Arch Pediatr 2020 Apr;27(3):160-165. Epub 2020 Feb 29 doi: 10.1016/j.arcped.2020.01.006. PMID: 32127242
Baiges A, Turon F, Simón-Talero M, Tasayco S, Bueno J, Zekrini K, Plessier A, Franchi-Abella S, Guerin F, Mukund A, Eapen CE, Goel A, Shyamkumar NK, Coenen S, De Gottardi A, Majumdar A, Onali S, Shukla A, Carrilho FJ, Nacif L, Primignani M, Tosetti G, La Mura V, Nevens F, Witters P, Tripathi D, Tellez L, Martínez J, Álvarez-Navascués C, Fraile López ML, Procopet B, Piscaglia F, de Koning B, Llop E, Romero-Cristobal M, Tjwa E, Monescillo-Francia A, Senzolo M, Perez-LaFuente M, Segarra A, Sarin SK, Hernández-Gea V, Patch D, Laleman W, Hartog H, Valla D, Genescà J, García-Pagán JC; REHEVASC, VALDIG an EASL consortium, Abernethy group
Hepatology 2020 Feb;71(2):658-669. Epub 2019 Aug 19 doi: 10.1002/hep.30817. PMID: 31211875
Braamskamp MJ, Dolman KM, Tabbers MM
Eur J Pediatr 2010 Oct;169(10):1179-85. Epub 2010 Jun 23 doi: 10.1007/s00431-010-1235-2. PMID: 20571826Free PMC Article
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free PMC Article

Clinical prediction guides

Nicloux M, Peterman L, Parodi M, Magny JF
Arch Pediatr 2020 Apr;27(3):160-165. Epub 2020 Feb 29 doi: 10.1016/j.arcped.2020.01.006. PMID: 32127242
Keung CY, Zentner D, Gibson RN, Phan DH, Grigg LE, Sood S, Nicoll AJ
Eur J Gastroenterol Hepatol 2020 Aug;32(8):907-915. doi: 10.1097/MEG.0000000000001641. PMID: 31851099
Baiges A, Turon F, Simón-Talero M, Tasayco S, Bueno J, Zekrini K, Plessier A, Franchi-Abella S, Guerin F, Mukund A, Eapen CE, Goel A, Shyamkumar NK, Coenen S, De Gottardi A, Majumdar A, Onali S, Shukla A, Carrilho FJ, Nacif L, Primignani M, Tosetti G, La Mura V, Nevens F, Witters P, Tripathi D, Tellez L, Martínez J, Álvarez-Navascués C, Fraile López ML, Procopet B, Piscaglia F, de Koning B, Llop E, Romero-Cristobal M, Tjwa E, Monescillo-Francia A, Senzolo M, Perez-LaFuente M, Segarra A, Sarin SK, Hernández-Gea V, Patch D, Laleman W, Hartog H, Valla D, Genescà J, García-Pagán JC; REHEVASC, VALDIG an EASL consortium, Abernethy group
Hepatology 2020 Feb;71(2):658-669. Epub 2019 Aug 19 doi: 10.1002/hep.30817. PMID: 31211875
Lebray P, Varnous S
Clin Res Hepatol Gastroenterol 2019 Apr;43(2):123-130. Epub 2019 Jan 8 doi: 10.1016/j.clinre.2018.08.009. PMID: 30635235
Asrani SK, Asrani NS, Freese DK, Phillips SD, Warnes CA, Heimbach J, Kamath PS
Hepatology 2012 Sep;56(3):1160-9. Epub 2012 Aug 2 doi: 10.1002/hep.25692. PMID: 22383293

Recent systematic reviews

Zhao S, Jiang H, Miao Y, Liu W, Li Y, Liu H, Wang A, Cui X, Zhang Y
BMC Pediatr 2024 Feb 29;24(1):148. doi: 10.1186/s12887-024-04607-3. PMID: 38418993Free PMC Article
Miki T
Gastroenterol Hepatol 2019 Mar;42(3):202-208. Epub 2018 Nov 22 doi: 10.1016/j.gastrohep.2018.10.007. PMID: 30470565
Groger M, Fischer HS, Veletzky L, Lalremruata A, Ramharter M
Malar J 2017 Mar 11;16(1):112. doi: 10.1186/s12936-017-1759-2. PMID: 28284211Free PMC Article
Marques-da-Silva D, Dos Reis Ferreira V, Monticelli M, Janeiro P, Videira PA, Witters P, Jaeken J, Cassiman D
J Inherit Metab Dis 2017 Mar;40(2):195-207. Epub 2017 Jan 20 doi: 10.1007/s10545-016-0012-4. PMID: 28108845
Russo FM, Eastwood MP, Keijzer R, Al-Maary J, Toelen J, Van Mieghem T, Deprest JA
Ultrasound Obstet Gynecol 2017 Jun;49(6):704-713. Epub 2017 Apr 26 doi: 10.1002/uog.16000. PMID: 27312047

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