PEDIA 250

▫ Primary complication is neurotoxicity of UCB across

 Yellow discoloration of the skin and sclerae due to the BBB (mostly in the basal ganglia, pons, &
elevated serum bilirubin (2-2.5 mg/dL); physical evidence cerebellum), known as kernicterus
of jaundice usually seen in levels of 5-10mg/dL
CONJUGATED HYPERBILIRUBINEMIA
 Severity of jaundice:
o Sclera icterus (3mg/dL) ▫ Can be caused by:
o Face (5mg/dL) a. Hepatocellular dysfunction
o Mid-abdomen (15mg/dL) b. Biliary obstruction
o Soles (20mg/dL) c. Abnormal excretion of bile acids / bilirubin

REVIEW: NORMAL BILIRUBIN FORMATION DIAGNOSTICS

LAB TESTS
▫ Formed from the degradation of heme-containing
BILIRUBIN
compounds (eg. Hgb)
 Total serum bilirubin should be fractionated to
1 Microsomal heme oxygenase catabolizes heme differentiate between conjugated and unconjugated
to biliverdin hyperbilirubinemia
2 Reduction of biliverdin to bilirubin by biliverdin  Hemolysis can interfere with assays, resulting in a falsely
reductase producing unconjugated bilirubin elevated conjugated fraction
(UCB) AMINOTRANSFERASES
3 Binding of UCB to albumin  Aspartate aminotransferase (AST) and Alanine
4 Bilirubin uptake by hepatocytes aminotransferase (ALT) used as arkers for hepatocelular
5 Conjugation of bilirubin (CB) w/ glucuronic acid by injury
bilirubin uridine diphosphate glucoronosyltransferase  Increased ALT level is more suggestive of liver disease
(UDPGT)  Markedly elevated levels (>5 to 10-fold) of both AST and
ALT can be due to:
6 Excretion of CB from the hepatocyte through
▫ Hepatitis, hepatotoxicity, ischemia, or
cannaliculi (biliary tree) to the duodenum
genetic/metabolic liver disorders
7 Bacterial hydrolysis converts CB to urobilinogen  Elevation of AST in excess of ALT suggests extrahepatic
8 Reabsorption via: Excretion via: source of injury
▫ enterohepatic ▫ Renal excretion of
circulation urobilinogen ALKALINE PHOSPHATASE
▫  - glucoronidase ▫ Conversion of  Enzyme found in bile ducts, bone, intestine, placenta, &
hydrolizes CB to urobilinogen to tumors
UCB and stercobilin and  Elevations occur with hepatobiliary disease but also in
reabsorbed via excreted in feces normal growth, healing fractures, vit. D deficiency, bone
enterohepatic disease, pregnancy and malignancy
circulation (in  Fractionation of alkaline phosphatise isoenzymes can
neonates) help determine its site of origin
 In evalusation of hyperbilirubinemia:
▫ UCB is lipophilic, cannot be excreted by the kidneys, ▫ Alp > 3x normal indicates cholestasis
and can easily cross cell membranes and the blood ▫ Milder elevation suggestive of hepatocellular disease
brain barrier Y-GLUTAMYLTRANSFERASE (GGT)
▫ CB is a polar, water soluble compound  More specific for biliary tract disease compared
HYPERBILIRUBINEMIA aminotransferases
 Can result from alteration of any step in the process of  GGT elevations are inducible by alcohol & certain drugs
bilirubin formation (phenytoin & Phenobarbital)
 Classified either as Conjugated (direct) or Unconjugated  Can be elevated in chronic pulmonary disease, liver
(indirect) depending on CB concentration in serum failure, or DM
 Conjugated hyperbilirubinemia exists when more than  Helpful in confirming that an elevated Alp is a result of
20% of the total bilirubin or >2mg/dL is conjugated liver disease and in differentiating familial cholestatic
syndromes
UNCONJUGATED HYPERBILIRUBINEMIA
▫ Can be caused by: BILE ACIDS
a. Increased production of bilirubin  Sensitive measure of cholestatic disease
b. Decreased delivery to the liver  Levels are generally very high in primary cholestasis &
c. Decreased hepatic uptake biliary obstruction
d. Decreased conjugation  Mildly increased (>2x normal) in hepatocelLular disease
e. Increased enterohepatic circulation of bilirubin
ALBUMIN
 Produced in the liver; reflecting hepatic synthetic
function
 Used in monitoring progression of chronic liver disease
nad in discriminating acute illness vs. Chronic disorder
 Hypoalbuminemia may be secondary to nephritic
syndrome or protein-losing enteropathy
PROTHROMBIN TIME
 Best marker of hepatic synthetic function (since clotting
factors are produced in the liver)
 If PT is prolonged, document response to parenteral
administration of vit K (Vit K deficiency)
 Consider disseminated intravascular coagulation &
thrombosis of a major blood vessel as alternative causes
for prolonged PT
IMAGING
ULTRASONOGRAPHY
 Useful, non-invasive, rel. Inexpensive for evaluation of
liver disease
 Provides info on size & consistency of liver, spleen, and
anatomic abnormalities of the biliary tree, gallstone &
hepatic masses
 Dilated intrahepatic ducts – indicate extrahepatic
obstruction
 Doppler UTZ – demonstrate dynamic flow in hepatic
blood vessels & portal vein (Portal HTN)
SCINTIGRAPHY
 Aid in diagnosis of biliary atresia
 Administration of Phenobarbital (5mg/kg/day) for 5 days
before the study may inc bile flow, increasing diagnostic
accuracy
COMPUTED TOMOGRAPHY
 Useful in identifying mass lesions within the liver
 CT + contrast used to define nature of liver tumors
 CT angiography to define anatomy of portal and hepatic
circulation
MAGNETIC RESONANCE
 Can demonstrate storage of heavy metals such as iron
(Neonatal iron storage disease)
 MR cholangiopancreatography (MRCP) is rel non-invasive
that helps visualize abnormalities of the intrahepatic &
extrahepatic biliary tree and the pancreatic duct system
ENDOSCOPIC RETROGRADE
CHOLANGIOPANCREATOGRAPHY (ERCP)
 Performed for evaluation of biliary anatomy
 Both diagnostic and therapeutic for common duct stones
and strictures
PERCUTANEOUS TRANSHEPATIC CHOLANGIOGRAPHY
 Both diagnostic & therapeutic; alternative to ERCP
 Done under UTZ guidance, where needle passes through
liver to biliary tree where contrast is injected
 Contraindicated in marked ascites or irreversible
coagulopathy
 Complications include bleeding, pneumothorax,
infection, and bile leakage
LIVER BIOPSY
 In which specific pattern of injury (eg. Paucity of bile
ducts / bile duct proliferation)
 Specific markers of disease may be identified (inclusions
in 1-antitrypsin deficiency) or measured (metabolic
enzyme activity)
HISTORY
 Note age at onset and duration of jaundice
▫ Onset after 24 hr of age
▫ Not persisting beyond 14 days of age (1 mo if breast-
fed)
 Acholic stools
▫ Indicate obstruction of the biliary tree; can also be
seen in severe hepatocellular injury
 Delayed passage of meconium (within 24-48 hrs) may be
2° to cystic fibrosis or Hirschsprung disease
 Assess prenatal and perinatal history
▫ Maternal infections (Syphilis, Toxoplasmosis, CMV,
Hep B, Enterovirus, HSV, HIV) that can cause
cholestatic liver disease in neonate
▫ Premature infants are more prone to higher level of
bilirubinemia and prolonged hyperbilirubinemia
▫ Symptoms of constipation, hypotonia & hypothermia
could indicate Hypothyroidism
▫ Hx of repeated affected neonates could indicate
Alloimune hepatitis
 Delayed feeding
 Breast-feeding associated w/ inc levels og UCB and
longer duration of jaundice
 Vomiting
▫ (+) lethargy and poor feeding is suggestive of
metabolic disorder
▫ Can also be a symptom of intestinal obstruction
(malrotation / volvulus)
PHYSICAL EXAMINATION
 Jaundice spreads in a cephalopedal direction
 Pallor may indicate hemolytic disease
 Petechiae suggestive of thrombocytopenia, possible
sepsis, congenital infection, or severe haemolytic disease
 Dysmorphic features:
▫ Microcephaly + jaundice is associated with
congenital viral infections
▫ Zellweger syndrome
o Narrow cranium, prominent forehead,
hypertelorism, epicanthal folds, large
fontanel
▫ Alagille syndrome
o Triangular face w/ broad forehead,
hypertelorism, deep-set eyes, long nose,
pointed mandible
 Ophthalmologic findings
▫ (+) cataracts – galactosemia and rubella
▫ Chorioretinitis – congenital infections
▫ Nystagmus w/ hypoplasia of optic nerve –
hypopituitarism w/ septo-optic dysplasia
 Presence of heart murmurs caused by underlying
congenital heart diseases associated with:
 ▫ Alagile syndrome  Exchange transfusion
▫ Trisomies
▫ Syndromic forms of Biliary atresia (Polysplenia UNCONJUGATED HYPERBILIRUBINEMIA
syndrome)  Hematologic evaluation must be performed to identify
Note: can also be a result of hepatic ischemia/congestion cause of hyperbilirubinemia
due to hyperbilirubinemia ▫ CBC with examination of smear
 Microphallus can be associated with septo-optic ▫ Reticulocyte count
dysplasia and hypopituitaism ▫ Direct Coombs test
▫ Blood typing
DIFFERENTIAL DIAGNOSIS
 Important to differentiate between physiologic and POLYCYTHEMIA
pathologic jaundice  Hct >65% by venipuncture
 Total and fractionated bilirubin measurement should be  Results from increased bilirubin production due to
performed if assessment of physiologic jaundice is increased RBC mass
questionable  Associated with maternal DM, maternal-fetal / twin-twin
transfusion, intrauterine hypoxemia, endocrine
PHYSIOLOGIC JAUNDICE disorders, and delayed cord clamping
PATHOYSIOLOGY
HEMOLYTIC DISORDERS
 Increased bilirubin production due to normal increased
 In patients w/ reticulocytosis, unconjugated
neonatal red blood cell mass and decreased lifespan of
hyperbilirubinemia and inc nucleated RBC count w/ low-
RBC (80 days)
normal Hct
 Lower albumin concentration and binding capacity (dec
albumin binding) resulting in lowerUCB transport to the ISOIMMUNE HEMOLYTIC DISEASE
liver  Maternal IgG to infant’s erythrocytes cross the placenta
 Bilirubin uptake in the 1st week of life is defective (dec resulting in RBC destruction
Glutathione S-transferase B)
Rh INCOMPATIBILITY
 Impaired conjugation due to dec activity of UDPGT
 presents with pallor, hepatosplenomegaly and rapidly
 Inc enterohepatic circulation of UCB due to:
developing jaundice
▫ Inc concentration of -glucoronidase
 occurs when and Rh-negative mother gives birth to a Rh-
▫ Dec intestinal bacterial flora diminished positive infant
urobilinogen formation  diagnosis is confirmed by:
MANIFESTATION ▫ Rh-positive infant
 Peak bilirubin level < 13 mg/dL on 3rd -5th day of life ▫ (+) direct Coombs test result
 Decrease to normal by 2 weeks of age ▫ Maternal antibody coating infant’s RBC
 Conjugated fraction of < 20%  Administration of anti-D gamma globulin (RhoGAM) after
delivery to Rh-negative women reduce incidence of Rh
BREAST MILK JAUNDICE sensitization and erythroblastosis fetalis
 Unconjugated hyperbilirubinemia of > 13 mg/dL  Management depending on degree of hemolysis may be
postnatal phototherapy and/or exchange transfusion
Early / Breast-feeding Late / Breast-milk
Jaundice Jaundice ABO INCOMPATIBILITY
o Occurs within the first o Occurs after the 1st  Common in infants with blood type A or B born to a type
5 days of life week of life O mother
o In infants not feeding o Peaks between 2nd &  Hemolysis develops in 50% of sensitized infants with a
adequately; may be 3rd week of life (10-20 bilirubin level > 10mg/dL
dehydrated / mg/dL)  Diagnosis:
malnourished o May be due to ▫ Blood smear: (+) anemia, reticulocytosis, &
▫ Inhibition of spherocytosis
UDPGT activity ▫ Weakly-positive direct Coombs
▫ Inc enterohepatic ▫ (+) indirect Coombs test
circulation of UCB
ERYTHROCYTE DEFECTS
 Kernicterus as a rare complication MEMBRANE DEFECTS
 associated w/ a family Hx of hemolysis, transfusions,
MANAGEMENT
cholecystectomy, or splenectomy
 Rooming-in and frequent feeding dec risk of breast-
 Hemolysis results from fragility of RBC
feeding jaundice
 Presents with:
 If bilirubin exceeds 20mg/dL in breast-fed infant
▫ Anemia, jaundice, and splenomegaly
 Discontinue breast-feeding for 24hrs
▫ Blood smear: spherocytosis . elliptocytosis
 Phototherapy
▫ (-) Coombs test
ENZYME DEFECTS
A. G6PD deficiency
 Most common
 Manifests as neonatal jaundice on day 2 or 3 after
birth; or in later childhood (jaundice associated with
acute haemolytic crisis)
B. Pyruvate kinase deficiency
 Enzymatic deficiency in the glycolytic pathway
 Mostly autosomal recessive mode of transmission
FAMILIAL DISORDERS OF BILIRUBIN METABOLISM
GILBERT SYNDROME
 Heterogenous group of disorders
 50% dec in UDPGT activity from defect in gene
responsible for this enzyme
 Dec in hepatocyte bilirubin uptake
 Generally asymptomatic until 2nd or 3rd decade of life
 All lab tests are normal except for inc indirect bilirubin
level
 Diagnosis is clinical;confirmed by 2 to 3-fold rise in UCB
during 24hr fast
CRIGLER-NAJJAR SYNDROME (Arias Syndrome)
 Rare autosomal recessive condition caused by mutation
of gene coding for UDPGT
A. TYPE I
▫ Marked hyperbilirubinemia (20-40mg/dL) in
neonatal period of a healthy infant
▫ Untreated individuals develop kernicterus
▫ Lab results show
o (-) CB in bile or serum
o Colorless bile
o (-) dec in serum UCB during Phenobarbital
administration
▫ Treatment via exchange transfusion, intensive
phototherapy, and liver transplant
B. TYPE II
▫ Onset at birth with <5% normal UDPGT activity
▫ Bile contains bilirubin monogluronides
▫ Bilirubin level of 8-25mg/dL
▫ Responds to Phenobarbital administration
LUCEY-DRISCOLL SYNDROME
 Transient familial neonatal hyperbilirubinemia
 Appears in the first few days of life and resolves by 2-
3weeks of age
 Results from inhibition of UDPGT by substance found in
both infant & maternal serum
 Bilirubin level can rise until 60mg/dL (resulting in
kernicterus)
 Treated with exchange transfusion
OTHER CONSIDERATIONS
 When Hct is normal, no evidence of hemolysis /
consumptive process
o GI Obstruction
▫ vomiting, abdominal distention, delayed
passage of meconium
▫ investigate via imaging
o Hypothyroidism / Hypopituitarism
▫ Look at thyroxine and TSH levels
o Drug administration
▫ Oxytocin, excess vit K in preterm infants,
antibiotics, phenol disinfectants and herbal
remedies
THERAPY FOR UNCONJUGATED HYPERBILIRUBINEMIA
 Depends on degree of elevation of bilirubin (> 20-30
mg/dL in healthy, term infants w/o evidenc of hemolysis)
PHOTOTHERAPY
 Produces reduction of bilirubin by 1-2mg/dL in 4-6 hours
 Photoisomerization and photodegradation of
unconjugated bilirubin to more water-soluble forms; to
be excreted in bile & urine
 Possible complications: retinal damage, diarrhea, &
dehydration
 Begun at levels below exchange transfusion (~5mg/dL) or
during prep for exchange transfusion
EXCHANGE TRANSFUSION
 Indicated for severe hyperbilirubinemia
 Indications:
▫ Term infants with evidence of hemolysis and
bilirubin >25-30mg/dL
▫ Non-responsive to phototherapy
▫ (+) signs of kernicterus:
 High-pitched cry, gaze paralysis, fever,
lethargy,& opisthotonic posture
CONJUGATED HYPERBILIRUBINEMIA
 Important to evaluate infant for potentially treatable
problems
 HYPOPROTHROMBINEMIA
▫ Characterized by prolonged PT
▫ Initial administration of IV vit K to avoid spontaneous
hemorrhage
▫ Managed with oral fat-soluble vitamin
supplementation until cholestasis resolves
 HYPOGLYCEMIA
▫ Associated with severe hepatic dysfunction,
metabolic disorders, and hypopituitarism
▫ Serum glucose level is measured before feeding
▫ Managed with frequent feeding, continuous feeding,
or IV dextrose infusions
 HYPERAMMONEMIA
▫ Present in sever liver dysfunction and metabolic liver
disorders
▫ Checked in infants presenting with lethargy or
change in mental status
 Other labs included in evaluation:
▫ Aminotransferases, GGT, and Alkaline phosphatise
▫ CBC
OBSTRUCTIVE/ANATMOIC ABNORMALITIES
BILIARY ATRESIA
 Result of a progressive inflammatory process leading to
obliteration of the lumen of the extraheptic duct
 Leading indication for liver transplant in pediatric
population
 Manifestation:
 ▫ Icteric at birth and develops jaundice at 2-6 weeks of
age
▫ Jaundice, dark urine, and acholic stools
 Types:
A. Embryonic / Fetal Form
▫ There is no jaundice-free period
▫ Associated with cardiac defects, polysplenia,
malrotation and situs inversus
B. Perinatal Form
▫ There may be jaundice-free interval after
resolution of normal physiologi jaundice
▫ No associated anomalies
 Diagnostics:
▫ Conjugated hyperbilirubinemia, acholic stools and
elevated GGT suggests prompt evaluation
▫ Ultrasound:
 to exclude other treatable anatomic
abnormalities (eg. Choledocal cyst)
 Gallbladder is absent or collapsed
▫ Liver biopsy
 Periportal edema & fibrosis, bile duct
proliferations, and bile duct plugs
▫ Hepatobiliary scintigraphy
 Demonstrates uptake of tracer but no
excretion into the duodenum
 Requires pretreatment with Phenobarbital
(due to delay in diagnosis)
 Inconclusive in hepatic dysfunction
 Management: Surgery
o Surgery
▫ Should be performed before 2 mos. of age
▫ Kasai Procedure
 portoenterostomy procedure in which porta
hepatis is transacted, and a loop of intestine
is brought up to drain the bile ducts
 complication: Bacterial ascending
cholangitis
▫ Liver Transplant
o Supplementation with MCT oil and fat-soluble
vitamins
 Portal HTN w/ splenomegaly, esophageal varices, and
ascitis can develop overtime
CHOLEDOCAL CYST
 Presentation:
▫ In neonates: conjugated hyperbilirubinemia w/
jaundice, vomiting, acholic stools and hepatomegaly
▫ In older children: jaundice, abdominal pain, and RUQ
mass
 Diagnosis by UTZ and confirmed by MR cholangiography
or intraoperatice cholangiography
 Treatment by surgical excision
ALGILLE SYNDROME
 Abnormal development of multiple organs related to
defective JAG-1/NOTCH-2 signaling
 Clinical features:
▫ Marked reduction in number of interlobar bile ducts
(most important)
▫ Unusual facies
 Triangular face w/ broad forehead,
hypertelorism, deep-set eyes, long nose,
pointed mandible
▫ Vertebral arch defects
 butterfly vertebrae, hemivertebrae, decreased
interpedicular distance
▫ Posterior embryotoxon (ocular)
▫ Cardiac defects
 peripheral pulmonic stenosis to complex CHDs
▫ renal anomalies, pancreatic insufficiency, and growth
retardation may be present
▫ pruritus develops by 4-6 mos of age
▫ Xanthomas appear in association with markedly
elevated cholesterol
 Autosomal dominant transmission
 Diagnosis is confirmed by liver biopsy
TREATABLE INFECTIONS
BACTERIAL INFECTION
 Blood and urine cultures should be obtained
 May present with poor feeding, lethargy, vomiting, temp
instability, apnea, bradycardia, or shock
 E. Coli most common etiologic agent –
hyperbilirubinemia caused by endotoxin-mediated
canalicular dysfunction
 Other gram-negative causes: Listeria, Staphylococcus,
and Streptococcus
HERPES SIMPLEX
 Manifests at 7-14 days of age with lethargy, por feeding,
a vesicular rash, jaundice, hepatomegaly, temp
instability, encephalitis, and coagulopathy
 Diagnosis by identification of virus in skin lesions through
▫ Direct fluorescent antibody staining
▫ Polymerase chain rxn of HSV in blood & CSF
 Treatment with IV Acyclovir
ENTEROVIRUS
 Manifests within 1-7 days after birth with similar
presentation w/ HSV except for macular rash
 Diagnosis by polymerase chain reaction or viral culture
 Treatment by IV immunoglobulin and Pleconaril
CYTOMEGALOVIRUS
 90% are asymptomatic at birth
 Can manifest within the first 24 hrs after birth w/ IUGR,
conjugated hyperbilirubinemia, haemolytic anemia,
thrombocytopenic purpura, and hepatosplenomegaly
 Diagnosis by urine culture
 Treatment via Ganiciclovir and CMV immunoglobulin
HEPATITIS B
 Seen in mothers who are seropositive for hep B e antigen
or have acquired acute infection in the last trimester
 Perinatal infection can be prevented with hep B immune
globulin and vaccination
SYPHILIS
 Presents with jaundice, fever, diffuse macular-papular
rash, hepatosplenomegaly, edema, anemia, and
periostitis in severely infected infants
 Diagnosis via
o Nontreponemal serologic tests on cord blood
o Confirmation from infant serum showing
▫ (+) IgM for syphilis
▫ (+) Immunoglobulin G fluorescent treponemal
antibody
 Treated with IV Penicillin for 10-14 days
TOXOPLASMOSIS
 IgM titers should be obtained or histologic examination
of placenta should be done
 Mostly asymptomatic; in severe infection may present
with hydrocephaly/microcephaly, intracranial
calcifications, chorioretinitis, aseptic meningitis, jaundice,
purpura, and hepatomegaly
 Postnatal treatment:
▫ Pyrimethamine and Sulfadiazine
▫ Folinic acid (to prevent folate deficiency)
TREATABLE METABOLC DISORDERS
GALACTOSEMIA
 Life-threatening disorder
 Autosomal recessive disorder with deficiency of
galactose-1-phosphate uridyltransferase
▫ needed for conversion of galactose to glucose
▫ accumulation is hepatotoxic
 once lactose is introduced in diet, infant presents with
vomiting, diarrhea, jaundice, hepatomegaly, & cataracts
 often presents with E.coli sepsis at 1st wk of life
 Laboratory evaluation:
▫ Elevated AST & ALT
▫ Prolonged PT
▫ Hemolytic anemia
▫ Aminoaciduria
▫ (+) galactose in urine
 Diagnosis by confirmed deficiency of enzyme in
erythrocytes and leukocytes
 Transfusion may cause false-negative results
 Treatment by eliminating galactose in diet
HEREDITARY FRUCTOSE INTOLERANCE (Fructosemia)
 Uncommon
 Manifests w/ hepatic failure when exposed to
fructose/sucrose in formula, juice, fruit, or medication
 Treatment by removal of fructose, sucrose, and sorbitol
from diet
TYROSINEMIA
 Diagnosed by serum amino acid levels and urine organic
levels
 Elevated urinary succinylacetone (pathognomonic)
 Treatment by dietary restriction of phenylalanine,
methionine, & tyrosine and use of 2-(2-nitro-4-
trifluoromethylbenzoyl)-1,3-cyclohexanedione
DISRODERS OF BILE ACID METABOLISM
 Suggested by conjugated hyperbilirubinemia w/ low-
normal GGT, and low-normal total bile acid levels
 Detected by bile acid FAB-MS urinalysis
 Treatment with oral cholic acid supplementation
1-ANTITRYPSIN DEFICIENCY
 Most common inherited cause of neonatal cholestasis
 Manifests in early infancy with prolonged conjugated
hyperbilirubinemia, failure to thrive, acholic stools,
hepatoegaly, and possible ascitis
 Diagnosis is by serum phenotyping (ZZ)
 Treatment is supportive
CYSTIC FIBROSIS
 Incidence is increased among infants w/ meconium ileus
 Diagnosis is confirmed with:
o Sweat chloride test
o Detecting abnormal gene
HYPOTHYROIDISM & HYPOPITUITARISM
 May manifest with hypoglycaemia, microphallus,
jaundice, and signs of hypothyroidism
 Wandering nystagmus seen in Hypopituitarism
associated w/ septo-optic dysplasia
 Resolution by treatment of underlying endocrine
disorder
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS
 Related to defective transport of bile acids
 Finding suggestive by:
▫ presence of cholestasis in absence of physical
damage to bile ducts
▫ normal GGT except for PFIC type 3 variant
 autosomal recesive disorder with 3 types (refer to
appendix)
IDIOPATHIC NEONATAL HEPATITIS
 Diagnosis of exclusion; common in premature / SGA
infants
 Hepatobiliary scintigraphy demonstrates delayed uptake,
but there is usually excretion into the duodenum unless
the hepatitis is severe
 Treatment is supportive
TREATMENT FOR CHOLESTASIS
Malabsorption of fats and fat-soluble vitamins occur as a
result of dec concentration of bile salts in intestinal lumen
 Affected infants should be given formulas containing
medium-chain triglycerides (MCTs)
 Caloric intake excess of 150 kcal/kg/day to maintain
growth
 Proper monitoring of growth
▫ Anthropometric evaluation of skinfold and mid-arm
circumference
 Supplemental vit A, D, E, K to prevent visual problems,
rickets, neuropathy, and coagulopathy
 Ascitis can be managed w/ Na restriction and diuretics
s
APPENDIX

Figure 1: Diagnostic Approach to Neonates/Infants with Hyperbilirubinemia