Biology Assignment 代写:Unusual Cases Of Massive Splenomegaly
Biology Assignment 代写:Unusual Cases Of Massive Splenomegaly
Hb (gm/dl)
4.6
Serum Na+/K+ (mmol/L)
132/4.9
TLC(cells/cmm)
6100
Serum bilirubin (mg/dl)
1.2
Reticulocyte count
2%
AST (IU/L)
112
PBS
Severe Microcytic Hypochromic anemia No hemolysis, haemoparasites
ALT(IU/L)
176
Blood Sugar
F/2 hour PP
94/118
Hb electrophoresis
Normal
Creatinine (mg/dl)
1.1
K19 (kalazar antigen)
Negative
Urine RE/ME
NAD
Serum LDH (IU/L)
992
Paracheck/QBC
Negative
Beta glucosidase assay (normal >4.0 nmol/hr/mg )
<0.37
Table 02
Type 1
Type 2
Type 3
Onset of disease
Childhood/adulthood
Infant
Childhood or adolescence
Age at death
Childhood/adulthood
Median 9 months
Childhood or early adulthood
Hepatosplenomegaly
Present
Present
Present
Bone involvement
Present
Absent
Present
Neurodegeneration
Absent
Present
Present
Other systems
Hepatic fibrosis, pulmonary hypertension, lymphoma
Congenital ichthyosis
Cardiac and vascular calcifications
Ethnicity
Panethnic and Ashkenazi Jews
Panethnic
Panethnic and Norrbottnian type from Sweden
Mutation association
N370S
Diverse
L444P
Table 03: Treatment goals for GD type 1
Anaemia
Improve and maintain haemoglobin at normal values (age, sex-dependent levels) 12-24 months
Thrombocytopenia
Increase and maintain platelet count sufficient to avoid bleeding difficulties
(1) Splenectomised patients normalise
12 months
2) Intact spleen increase 1.5-2 fold and then to low normal
12-24 months
(3) Avoid splenectomy
Hepatomegaly Decrease and maintain liver volumes at 1-1.25 times normal volumes
1) Decrease by 20-30%
12-25 months
2) Decrease by 30-40%
About 36 months
Splenomegaly Decrease and maintain spleen volume <2-8 times normal volumes
(1) Decrease by 30-50%
12 months
(2) Decrease by 50-60%
About 24-36 months
Bone involvement
(1) Lessen or eliminate bone pain
12-24 months
(2) Prevent bone crises
12-24 months
(3) Attain ideal peak bone mass in chil dren
By puberty
Paediatric growth
(1) Achieve normal growth rate
By 36 months
(2) Achieve normal puberty
Family adjusted
Pulmonary involvement Reverse hepatopulmonary syndrome, decrease or eliminate pulmonary hypertension, prevent pulmonary failure Needs development
Quality of life
1) Restore daily activities
Patient adjusted
2) Improve quality-of-life scores on validated tests
24-36 months
Fig 01: Photomicrograph of the bone marrow studies showing sheets of PAS positive histiocytes (arrows).
Fig 02 X ray Skull (lateral view) showing osteopenia
Fig 03 X ray pelvis revealed osteolytic lesion (arrow) in the proximal right femur (Fig 03)
Fig 04 X ray knee AP view showed the typical Ehrlenmeyer flask deformity.