PATH30001 EXAM QUESTIONS WITH 100%
CORRECT ANSWERS
CVID - ANSWER TACI
No Ig
Pneumococcal infection, polyarthritis
SAD - ANSWER No polysaccharide Ig
Pneumococcal infection
IPEX - ANSWER FoxP3
No Treg
Villous atrophy, eczema, fatty change, nephritis
Chronic Granulomatous Disease - ANSWER X-Linked NADPH Oxidase
No neutrophils
Catalase organism infection
IRAK-4 - ANSWER IL-4 Receptor Associated Kinase
No Treg from inhibited NFkB signalling
Pyogenic infection
SCID - ANSWER X-Linked cY
No lymphocytes/NK cells
Viral infections (HPV, CMV)
Cannot use live virus vaccine
Alport Syndrome - ANSWER X-linked abnormality of Type IV Collagen
Disrupts glomerular BM
Deafness, ocular abnormalities, end stage renal failure
Diabetic Nephropathy - ANSWER Thickened basement membrane with increased
permeability
,Collagenous scarring
Acute Renal Failure - ANSWER Failure to produce/filter urine, leading to blood/protein in
the urine
Acute Tubular Necrosis - ANSWER Glomeruli resistant to ischaemic injury
Tubular epithelium able to regenerate
Immune Complex-Mediated Glomerulonephritis - ANSWER Ag-Ab deposits in tufts of
glomeruli
-Acute reversible
-Rapidly progressive with presents (fibrin + monocytes)
-Slowly progressive to chronic renal failure with segmental scarring
Anti-Glomerular Basement Membrane Disease - ANSWER Ab targeted against BM
No Ag-Ab deposition
Tubular Interstitial Infections - Pyelonephritis - ANSWER Ascending Gram (-) from
bladder
No loss of renal function
Acute Interstitial Nephritis - ANSWER Drug allergies
Dysuria with protein/blood
Amyloidosis - ANSWER Type II Diabetes complication
Congo red staining
Accumulated of glycosylated insoluble proteins in B-sheets
Polycystic Kidney Disease - ANSWER Autosomal abnormality on Chromosome 16
Aneurysms with marked hypertrophy
Nephrosclerosis - ANSWER End result of prolonged moderate hypertension
Bilaterally shrunken kidneys
Alzheimer's - ANSWER Mutation in Amyloid Precursor Protein
Lewy body a-synuclein aggregates in substantia nigra
AB-plaques and Tau tangles
Neurodegeneration and loss of cognitive function
, Tay Sach's - ANSWER Hexominidase A deficiency
GM2 Ganglioside accumulation - ubiquitous but only problematic for neurons as they
cannot regenerate
Meningitis - ANSWER Bacterial infection
Headache and neck stiffness from increased intracranial pressure
Evasion of host immune response via capsule/exotoxin
HIV encephalitis - ANSWER Transmission to brain via infected monocytes
Necrosis and gliosis
Multiple Sclerosis - ANSWER Auto-Ab directed towards myelin sheath
Usually clonal ignorant as BBB is an immune privileged site
Th!-mediated neurodegeneration
Leukodystrophies - ANSWER Myelin abnormalities presenting in white matter
Lysosomal Storage Disease - ANSWER Decreased synthesis of enzymes required for
lipid metabolism
Accumulation in lysosomes induced cell death
B-Thalassaemia - ANSWER C replaces T in transcription start site of B-globin synthesis
gene
Results in a4-homodimers instead of a/B-heterodimers
Anaemia due to precipitation of heterodimers in RBCs
Pro-Inflammatory Adipokines - ANSWER Leptin (ob gene, satiety via activation of aMSH
neurons)
Resistin (insulin resistance, increased in obesity)
TNFa
IL-6
Gliosis - ANSWER Hypertrophy and Hyperplasia of glial cells (astrocytes) in response to
CNS injury
Upregulation of GFAP
Potentiates injury
Idiopathic Parkinson's Disease - ANSWER Neurodegeneration via toxic exposure to
CORRECT ANSWERS
CVID - ANSWER TACI
No Ig
Pneumococcal infection, polyarthritis
SAD - ANSWER No polysaccharide Ig
Pneumococcal infection
IPEX - ANSWER FoxP3
No Treg
Villous atrophy, eczema, fatty change, nephritis
Chronic Granulomatous Disease - ANSWER X-Linked NADPH Oxidase
No neutrophils
Catalase organism infection
IRAK-4 - ANSWER IL-4 Receptor Associated Kinase
No Treg from inhibited NFkB signalling
Pyogenic infection
SCID - ANSWER X-Linked cY
No lymphocytes/NK cells
Viral infections (HPV, CMV)
Cannot use live virus vaccine
Alport Syndrome - ANSWER X-linked abnormality of Type IV Collagen
Disrupts glomerular BM
Deafness, ocular abnormalities, end stage renal failure
Diabetic Nephropathy - ANSWER Thickened basement membrane with increased
permeability
,Collagenous scarring
Acute Renal Failure - ANSWER Failure to produce/filter urine, leading to blood/protein in
the urine
Acute Tubular Necrosis - ANSWER Glomeruli resistant to ischaemic injury
Tubular epithelium able to regenerate
Immune Complex-Mediated Glomerulonephritis - ANSWER Ag-Ab deposits in tufts of
glomeruli
-Acute reversible
-Rapidly progressive with presents (fibrin + monocytes)
-Slowly progressive to chronic renal failure with segmental scarring
Anti-Glomerular Basement Membrane Disease - ANSWER Ab targeted against BM
No Ag-Ab deposition
Tubular Interstitial Infections - Pyelonephritis - ANSWER Ascending Gram (-) from
bladder
No loss of renal function
Acute Interstitial Nephritis - ANSWER Drug allergies
Dysuria with protein/blood
Amyloidosis - ANSWER Type II Diabetes complication
Congo red staining
Accumulated of glycosylated insoluble proteins in B-sheets
Polycystic Kidney Disease - ANSWER Autosomal abnormality on Chromosome 16
Aneurysms with marked hypertrophy
Nephrosclerosis - ANSWER End result of prolonged moderate hypertension
Bilaterally shrunken kidneys
Alzheimer's - ANSWER Mutation in Amyloid Precursor Protein
Lewy body a-synuclein aggregates in substantia nigra
AB-plaques and Tau tangles
Neurodegeneration and loss of cognitive function
, Tay Sach's - ANSWER Hexominidase A deficiency
GM2 Ganglioside accumulation - ubiquitous but only problematic for neurons as they
cannot regenerate
Meningitis - ANSWER Bacterial infection
Headache and neck stiffness from increased intracranial pressure
Evasion of host immune response via capsule/exotoxin
HIV encephalitis - ANSWER Transmission to brain via infected monocytes
Necrosis and gliosis
Multiple Sclerosis - ANSWER Auto-Ab directed towards myelin sheath
Usually clonal ignorant as BBB is an immune privileged site
Th!-mediated neurodegeneration
Leukodystrophies - ANSWER Myelin abnormalities presenting in white matter
Lysosomal Storage Disease - ANSWER Decreased synthesis of enzymes required for
lipid metabolism
Accumulation in lysosomes induced cell death
B-Thalassaemia - ANSWER C replaces T in transcription start site of B-globin synthesis
gene
Results in a4-homodimers instead of a/B-heterodimers
Anaemia due to precipitation of heterodimers in RBCs
Pro-Inflammatory Adipokines - ANSWER Leptin (ob gene, satiety via activation of aMSH
neurons)
Resistin (insulin resistance, increased in obesity)
TNFa
IL-6
Gliosis - ANSWER Hypertrophy and Hyperplasia of glial cells (astrocytes) in response to
CNS injury
Upregulation of GFAP
Potentiates injury
Idiopathic Parkinson's Disease - ANSWER Neurodegeneration via toxic exposure to
