Neonatal Jaundice Ahmedabad: Dr SK Yachha
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Neonatal jaundiceNeonatal jaundiceNeonatal jaundiceNeonatal jaundice
Surender K Yachha MD, DMSurender K Yachha MD, DMProfessor and Head Professor and Head
Department of Pediatric GastroenterologyDepartment of Pediatric GastroenterologySanjay Gandhi Postgraduate Institute of Medical Sciences, LucknowSanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow
Neonatal JaundiceNeonatal Jaundice
Definition of conjugated Definition of conjugated jaundicejaundice
Direct bilirubin level
>1 mg/dL if total serum bilirubin < 5mg/dL
or
> 20% of the total bilirubin if > 5mg/dL
Indian Pediatrics - August 2000, Vol. 37, Number 8
Consensus Report on Neonatal Cholestasis Syndrome
How to do it ?How to do it ?3 wk baby, jaundice3 wk baby, jaundice
Does the urine stain diapers:yes
What is the stool color ?
Yellow PaleConfirmConfirm Confirm
Not sure
UltrasoundLFT
Worried, fast track
Liver biopsy
Nuclear scan
+
Case I: 64 days old babyCase I: 64 days old baby
• Jaundice noticed from day 3 life..• Diaper staining urine..• Persistently pale stools from birth• Not sick• BW: 2.2kg, No weight gain despite adequate
feeding• No abnormal facies, dysmorphism, Cataract• Liver 3cm firm, Spleen:1cm• CVS: Normal
PossibilityPossibility
First Possibility First Possibility Biliary atresia Biliary atresia
InvestigationsInvestigations
TB/DB 10/6.8
AST/ALT 310/125
TP/Alb 5.6/3.6
ALP 1435
GGT 1751
PT 13.1 sec
Liver BiopsyLiver Biopsy• Ductular proliferation • Fibrosis • Widening of portal tracts• Early cirrhosis
Biliary Biliary atresiaatresiaPale stoolPale stool
Not sick childNot sick childUSG featuresUSG features
BiopsyBiopsy
Biliary Biliary atresiaatresiaPale stoolPale stool
Not sick childNot sick childUSG featuresUSG features
BiopsyBiopsy
Subtype of type 3 atresia with patent gall bladder & distal bile duct but Subtype of type 3 atresia with patent gall bladder & distal bile duct but proximal atresia. The gall bladder though good in size, is filled with mucous. proximal atresia. The gall bladder though good in size, is filled with mucous.
Type 1, Type 1, CBD atreticCBD atretic
Type IIType IICBD, CHD, GB atretic; CBD, CHD, GB atretic;
Confluence patentConfluence patent
Type IIIType IIICBD, CHD, GB atretic; CBD, CHD, GB atretic; Confluence not patentConfluence not patent
Management and follow-upManagement and follow-up
Confirmed on laparotomyConfirmed on laparotomy
Kasai PortoenterostomyKasai Portoenterostomy
Follow-upFollow-up
Successful Kasai (3mo post-surgery: TB:2.3/DB:0.7)
Pigmented stools
Follow up at 6 monthsThriving. Wt gain present
Bilirubin normal
Natural history
KASAI
Unrepaired BA
Failed Kasai
Birth 6mo 1yr 1 ½ yr 2yr 3yr
Decompensation by 1 ½- 2 yrSurvival beyond 3rd yr unusualRepeated hospitalisationsPoor QOL
Brief period of relative well being Natural course thereafter same as “Unrepaired BA”
Case II: 90 days old Case II: 90 days old
• Jaundice noticed at D18 of life• Pigmented stools• BW: 2.3kg , Wt gain: 30 gm/day• Uneventful pregnancy, No F/H
• O/E: Not sick, Icterus +• All consecutive stools - pigmented• Liver 3cm soft , Spleen 2cm
InvestigationsInvestigations
TB/DB 7.6/4.4
AST/ALT 224/86
TP/Alb 6.9/3.4
ALP 312
GGT 54
PT 10.1 sec
InvestigationsInvestigations
Follow-upFollow-up
3mo 6mo 9mo 11mo 14mo
Splenomegal
y
Bilirubin Hepatomegal
y AST/ALT
NormalizedNormalized
Natural History:Natural History:Time to normalize (n=40)Time to normalize (n=40)
5.1
9 9
4.26.5
0
4
8
12
16
Ag
e i
n m
ths
SGPGIMS experienceSGPGIMS experience
Case III: 1 year oldCase III: 1 year old
• Jaundice, pale stools • Diaper staining urine since 2 months of
age• Pruritus from 5 mo age• BW: 2.2kg, Wt gain: poor • Isolated mild gross motor delay• No significant antenatal or F/H
Cholestasis, PruritusCholestasis, PruritusPILBD,A-1ATD,PFIC,Neonatal sclerosing PILBD,A-1ATD,PFIC,Neonatal sclerosing
cholangitischolangitis
Facial dysmorphismFacial dysmorphism
JaundiceJaundice
Liver:3cm Liver:3cm softsoft, spleen:2cm, spleen:2cmCVS: systolic murmur in CVS: systolic murmur in 22ndnd intercostal space intercostal space
InvestigationsInvestigations
TB/DBTB/DB 13.3/8.013.3/8.0AST/ALTAST/ALT 398/250398/250TP/AlbTP/Alb 7.2/3.57.2/3.5ALPALP 11011101GGTGGT 334334
PT PT 11.4 sec11.4 sec
Liver Biopsy: 1 bile duct out of 9 portal tracts Liver Biopsy: 1 bile duct out of 9 portal tracts Paucity of interlobular bile ducts..Paucity of interlobular bile ducts..
Liver Biopsy: 1 bile duct out of 9 portal tracts Liver Biopsy: 1 bile duct out of 9 portal tracts Paucity of interlobular bile ducts..Paucity of interlobular bile ducts..
InvestigationsInvestigations
Final diagnosis
Syndromic PILBD(Alagille Syndrome)
Final diagnosis
Syndromic PILBD(Alagille Syndrome)
Overall 95% Overall 95% CholestasisCholestasis
ProgressionProgression 15% Cirrhosis 15% Cirrhosis and liver failureand liver failure
Overall Mortality: 10% Overall Mortality: 10%
Liver disease: 25%Liver disease: 25% Cardiac, renal, vascular: 75%Cardiac, renal, vascular: 75%
Emerick. Hepatology. 1999; 29: 822–9Emerick. Hepatology. 1999; 29: 822–9Lykaveiris Gut 2001;49:431–435Lykaveiris Gut 2001;49:431–435
Natural History of Alagille Natural History of Alagille SyndromeSyndrome
LTxLTx
Case IV: 4 moCase IV: 4 mo
• Jaundice from 3rd month of life• Intermittently pale and pigmented stools• Pruritus 15 days; PILBD, PFIC, A-1 AT def. ?• Poor wt gain, Normal development
Family history• H/O Sib death – jaundice, pruritus and
diarrhea at 6mo age, death at 5yrs• H/O Cholestasis of pregnancy in mother
• O/E: Icterus +• Liver 3cm soft, Spleen: NP
InvestigationsInvestigations
TB/DBTB/DB 7.6/5.37.6/5.3AST/ALTAST/ALT 45/2945/29TP/AlbTP/Alb 6.6/3.76.6/3.7ALPALP 630630GGTGGT 0808
PT PT 10.8 sec10.8 sec
USG abdomen USG abdomen Liver heterogenous echotextureLiver heterogenous echotexture
Good sized contractile GBGood sized contractile GB
USG abdomen USG abdomen Liver heterogenous echotextureLiver heterogenous echotexture
Good sized contractile GBGood sized contractile GB
NGRS negative, TORCH/VDRL negativeNGRS negative, TORCH/VDRL negativeNormal AFP, Ferritin Normal AFP, Ferritin Normal Eye exam. X-ray dorsal spine Normal Eye exam. X-ray dorsal spine Normal Lipid profile, ECHONormal Lipid profile, ECHO
NGRS negative, TORCH/VDRL negativeNGRS negative, TORCH/VDRL negativeNormal AFP, Ferritin Normal AFP, Ferritin Normal Eye exam. X-ray dorsal spine Normal Eye exam. X-ray dorsal spine Normal Lipid profile, ECHONormal Lipid profile, ECHO
Liver Biopsy : 2 bile duct out of 20 portal tracts Liver Biopsy : 2 bile duct out of 20 portal tracts Paucity of interlobular bile ducts. Paucity of interlobular bile ducts.
Intracanalicular and intracellular Intracanalicular and intracellular cholestasischolestasis
Liver Biopsy : 2 bile duct out of 20 portal tracts Liver Biopsy : 2 bile duct out of 20 portal tracts Paucity of interlobular bile ducts. Paucity of interlobular bile ducts.
Intracanalicular and intracellular Intracanalicular and intracellular cholestasischolestasis
PFIC PFIC Progressive Familial Intrahepatic cholestasis Progressive Familial Intrahepatic cholestasis
Intracanalicular and intracellular Intracanalicular and intracellular cholestasis +cholestasis + PruritusPruritus
Type 1 or 2: Low GGTType 1 or 2: Low GGT
PFIC PFIC Progressive Familial Intrahepatic cholestasis Progressive Familial Intrahepatic cholestasis
Intracanalicular and intracellular Intracanalicular and intracellular cholestasis +cholestasis + PruritusPruritus
Type 1 or 2: Low GGTType 1 or 2: Low GGT
Management and follow-upManagement and follow-up
On UDCA and Rifampicin, On UDCA and Rifampicin, CholestyramineCholestyramine
At 2 yr follow-upAt 2 yr follow-up
Persistently low GGT Persistently low GGT
Pruritus difficult to controlPruritus difficult to control
LFT no improvementLFT no improvement
Wt gain present but not satisfactoryWt gain present but not satisfactory
Clinical Parameters PFIC 1 PFIC 2 PFIC 3
Age of onsetAge of onset Infancy Neonatal age Adolescence
Course Course Relapsing Persistent Delayed
Rate of progression Rate of progression Moderate Fast Slow
Cirrhosis Cirrhosis First decade
By 1 year of life Young adults
Pruritus Pruritus Severe Severe Moderate
Growth retardation Growth retardation ++ +++ -Extrahepatic manifestationsExtrahepatic manifestations
Diarrhea, Diarrhea, Pancreatitis, Pancreatitis, Deafness, wheezeDeafness, wheeze
Present None None
ComparisonComparison
Pruritus UDCA response Biliary diversion HCC LTx
100% 70% 7.5% 0% 50%
100% 58% 30% 26% 47%
1.5yr n=1
5yr(1.5-10.5yr
7yr(0.4-13yr)
4yr(1.5-7.5yr)
Davit-Spraul A. Hepatology 2010;51:1645-1655Davit-Spraul A. Hepatology 2010;51:1645-1655
Natural History of PFICNatural History of PFIC
BW:2.9kg
Jaundice with pigmented stools from D10Jaundice with pigmented stools from D10
SeizuresSeizures
Uneventful pregnancyUneventful pregnancyNo F/HNo F/H
Case VI: 37daysCase VI: 37days
Case VI: 37daysCase VI: 37days
TB/DBTB/DB 24/824/8AST/ALTAST/ALT 89/7989/79TP/AlbTP/Alb 3.8/2.83.8/2.8ALPALP 434434GGTGGT 7878PT PT 20.8 sec 20.8 sec
not correctablenot correctable
TLC , DLCTLC , DLC 7900, N70 L307900, N70 L30
PlateletsPlatelets 8000080000
CRPCRP PositivePositive
InvestigationsInvestigations
Management and follow-upManagement and follow-up
Galactose-free diet (Off breast milk)
At 1 yr follow-up• LFT normalized• Coagulopathy corrected• Organomegaly regressed• No major intercurrent illnesses• Steady weight gain • Normal development
1mo 3mo
BW: 3 kg BW: 3 kg
Breast fedBreast fed
Jaundice with pigmented stoolsJaundice with pigmented stools
Uneventful pregnancyUneventful pregnancyNo F/HNo F/H
Case VII: 3 moCase VII: 3 mo
TB/DBTB/DB 15/915/9AST/ALTAST/ALT 913/525913/525TP/AlbTP/Alb 3.2/1.73.2/1.7ALPALP 632632GGTGGT 6767INR INR 4.24.2
not correctablenot correctable
TLC , DLCTLC , DLC 16700, N79 L2016700, N79 L20
PlateletsPlatelets 160,000160,000
CRPCRP PositivePositive
Case VII: 3 moCase VII: 3 mo
ManagementManagement
3mo 4mo
Soya feedSoya feed
Rapid downhill course
Rapid downhill course
2 weeks2 weeks
Rapid downhill course
Rapid downhill course
2 weeks2 weeks
GAL-1-PUT “normal”GAL-1-PUT “normal”Lactose restarted by labLactose restarted by lab!!!!
Case VII… Further courseCase VII… Further course
Long term complicationsLong term complications
• Verbal dyspraxia and lower IQ despite strict diet• Progressive neurological disease: ataxia, tremor• Hypergonadotrophic hypogonadism • Infertility in women
Elsas LJ Galactosemia Gene Reviews 1993Elsas LJ Galactosemia Gene Reviews 1993