Term
| What are the causes of Non-cholestatic and Cholestatic jaundice in pediatric liver disease? |
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Definition
Non-cholestatic
1) Bilirubin overproduction
2) Impaired bilirubin transport
3) Impaired hepatic uptake
4) Impaired conjugation
5) Altered enterohepatic circulation
Cholestatic (most common is Biliary atresia)
- Structural
- Genetic
- Acquired |
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Term
| What are the 2 types of BIliary Atresia? |
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Definition
Progressive scarring of bile ducts outside and inside liver leading to complete block of bile flow in first 3 months (50% of childhood liver transplants!!!!)
Caused by birth defects, infection, toxin, vessel issue or immune system.
1) Failure of bile duct to develop in womb (fetal-embryonic)
2) Damage and scarring after birth
- 80% in the context of no other birth defects (happened right before baby was born) |
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Term
2 month old presents with jaundice, dark urine and hepatomegaly. Mom says he has been producing pale stools
What would the blood work show and how do you treat? |
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Definition
these symptoms at 6-8 weeks fit with Biliary Atresia
1) Blood work would show bilirubin 7-10 mg/dl with conjugated form at 3-5 (dark urine and pale stool)
2) Order an US of liver/GB immediately to confirm and provide Kasai procedure
- If late diagnosis, failed kasai surgery or cirrhosis- need TRANSPLANT (80% of the time) |
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Term
6 month old boy presents with hepatosplenomegaly, evidence of cirrhosis and portal HTN, cholestasis and poor vision.
His face exhibits a prominent forehead with deep-set eyes, a saddle nose and prominent ears.
On PE, you notice a stenotic heart murmur and X-ray reveals vertebrae that look like "butterflies"
What is the genetic basis of this condition? |
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Definition
Murmor, Facies, liver, skeletal and visual suggest Alagille's Syndrome (decent survival)
Murmor may be due to coarctation or aorta
1) AD syndrome with 94% penetrance and 14% sporadic cases
2) JAG1 (surface Notch ligand) mutations (important for cell fate determination).
- Haploinsufficiency (one gene alteration causes complete lack/defective protein) and Dominant negative (mutated protein antagonized norma) |
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Term
| What are the major developmental pancreatic disorders of childhood? |
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Definition
1) Congenital anomalies
- Annular (Ssh or Ish)
- Hypoplasia (NOTCH inactivation)
- Aplasia (PDX-1)
- Divisum (IHH and SHH heterozygous null alleles)
2) Shwachman-Diamond syndrome
- Defect in SBDS gene on 7q11 causes exocrine (acinar) dysfunction with intact ductal function.
3) Johansson-Blizzard Syndrome (CHUCKY!)
- Acinar cells replaced with connective tissue
- Normal Islets and ducts
- Mutation in 15q14 (E3 ubiquitin ligase) |
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Term
Young boy presents with short stature, short flared ribs, recurrent infections and psychomotor retardation.
Labs reveal neutropenia, thrombocytopenia, anemia and elevated LFTs.
What is the pathogenesis of this condition? |
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Definition
Shwachman-Diamond Syndrome
- Exocrine pancreas dysfunction (Acinar) with preserved ductal function
- Mutation in SBDS gene on 7q11 (RNA processing) |
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Term
| What are the major inflammatory pancreatic disorders of childhood? |
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Definition
1) Acute pancreatitis
- Reversible inflammation
- Increasing incidence and awareness
- Systemic illness, trauma, structural, drugs, hereditary
2) Chronic pancreatitis
- Irreversible morphological/histological change in gland with decreased function
- CF, Hereditary pancreatitis, idiopathic, recurrent AP, develomental |
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Term
| What are the clinical symptoms of acute pancreatitis both before and after 3 years of age? |
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Definition
1) <3 years
- Abd. pain and vomiting
2) >3 years
- Abd. pain, irritable, distention, fever |
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Term
| Why do patients with Alagille's syndrome have ocular defects? |
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Definition
| Posterior embryotoxin (abnormal prominence of Schwalbe line) |
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Term
| What 3 diseases/syndromes are associated with childhood acute pancreatitis? |
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Definition
1) Sepsis
2) Hemolytic Uremic Disease
- 20% of HUS patients under 3 yr at CHP had pancreatitis
3) Collagen Vascular Disease
- SLE
- Polyarteritis Nodosa
- Kawasaki’s |
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Term
| What are the most common etiologies of chronic pancreatitis during childhood? |
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Definition
1) Cystic Fibrosis
2) Hereditary Pancreatitis
3) Idiopathic
4) Recurrent Acute Pancreatitis
- Congenital Anomalies
- Metabolic
5) Developmental Syndromes
- Schwachman-Diamond (SDBS on 7q11)
- Johansson Blizzard (E3 UL)
- Jeune
- Pearson’s |
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