Hepatology

Question 1

Mention CP, diagnosis and TTT of glycogen storage disease

Answer 1

CP: symptoms varyaccording to type from mild to fatal; some features are
1. Fasting hypoglycemia L
2. Growth retardation G
3. Hepatomegaly O
4. +/- HSM, PHTN
5. +l- cardiomyopathy, myopathy, rickets, renal enlargemnt CGN
Diagnosis: FBS, liver biopsy, enzyme detection in peripheral blood cells
TTT: continuous supply of glucose to maintain normal blood glucose by day and during night time (uncooked corn starch). Liver transplant only in some cases.

Question 2

Mention type of Gaucher disease

Answer 2

1: Chronic non-neuropathic, ERT is effective
2: Acute infantile neurogenic=fatal
3. Chronic neuropathic
2,3–>ERT can improve systemic syptoms but has no effect on neurological disease progression

Question 3

Mention CP, diagnosis and TTT of Gaucher disease

Answer 3

Glucocerebrosidase enzyme deficiency
CP: AR
1. Symptoms of BM infiltration: easy bruising, pupura, anemia, recurrent infections (A) AND pathological fractures (U)
2. HSM (H)
3. Skeletal and bone pain and fractures
4. Neurological affection as mentioned before (C)
Diagnosis: BM aspirate (Gaucher cells) and liver biopsy, detection of deficient Enzyme
TTT: ERT, BMT, symptomatic management esp replacemnt of blood products (R)

Question 4

Mention CP, diagnosis and TTT of tyrosinemia (type 1)

Answer 4

CP: Neonatal jaundice (I), Fanconi syndrome (R) and hepatomgaly (cirrhosis, O), neurological affection (severe forms, N), cardiomyopathy (M) , hemorrhage
Diagnosis: detection of high levels of tyrosine and its metabolites (succinyl acetone) in serum and urine, detection of deficient enzyme.
TTT: NTBC, low protein diet, livertransplant

Question 5

Mention CP, diagnosis and TTT of Wilson disease

Answer 5

CP: ِAR
1. Hepatic manifestations usually the earliest may present as acute hepatitis, acute fulminant hepatitis or chronic liver disease (L)
2. Neurological manifestations psychiatric (S) and extrapyramidal (motor no sensory, S). (N)
2. Kayser Fleischer ring (O, 5yrs)
3. Fanconi $ (N)
4. Coombs -ve hemolytic anemia (N)
5. Infertility (I)
Diagnosis: high urinary Cu (I), low ceruloplasmin (L) and Cu, liver biopsy (L)
TTT: Copper-free diet, D-penicillamine, oral zinc sulphate.