ID/Genetics/Haem Flashcards
What is the pattern of X-linked dominant inheritance?
No male to male transmission
All daughters of a male who has the trait will also have the trait
Sons can have the trait only if their mothers have the trait
What is Burkitt’s lymphoma?
High grade B cell non-Hodgkin’s lymphoma - rapidly growing and aggressive
What are the types of Burkitt’s lymphoma?
Endemic - most common in children and associated with EBV and malaria
Sporadic
Immunodeficiency related
How do you treat cryptosporidiosis?
Nitazoxanide in immune competent
Resorting CD4 count above 100 in immune deficient people
In which conditions would you have a positive anticardiolipin antibody?
Antiphospholipid syndrome
SLE
Idiopathic thrombocytopaenic purpura
RA
Psoriatic arthritis
Sjogren’s syndrome
What is a TRALI?
Non cardiogenic pulmonary oedema in the first 6 hours of transfusion
What is cystic fibrosis?
An autosomal recessive disease caused by mutations in the delta F508 gene on chromosome 7
Give some examples of type V hypersensitivity reactions
Tumour rejection
Defence against parasites
Which neurological condition is associated with Down’s syndrome?
Alzheimer’s disease
What is influenza caused by?
Orthomyxovirus (RNA)
What are viral warts caused by?
Papovavirus (DNA virus)
Explain the pathophysiology of PND
Mutation in haematopoetic stem cells in an X linked gene resulting in a deficiency in GPI protein
CD55 and CD99 are proteins responsible for deactivating complement
There is therefore chronic completment mediated destruction of red cells
Name some X linked recessive conditions
Red-green colour blindness
Duchenne’s MD
Becker’s MD
G6PD deficiency
Haemophilia A
Haemophilia B
Alport syndrome
What is SCID?
A life threatening syndrome of recurrent infections, diarrhoea, dermatitis and failure to thrive
What is selective IgA deficiency?
A relatively mild immunodeficiency resulting in increased infections, especially of the respiratory and digestive tract
Which biomarker is used to predict prognosis in MM?
B2 microglobulin
What is the inheritance pattern of Fragile X syndrome?
X-linked dominant
Name some physical features associated with Fragile X syndrome
High forehead
Large testes
Facial asymmetry
What is Hartnup disease?
Autosomal recessive disorder causing defective renal & intestinal absorption of amino acids
Which chromosomal translocation is implicated in Burkitts lymphoma?
T(8;14)
Name some stressors for G6PD deficiency?
Viral and bacterial infections
Drugs - sulfa drugs, quinines
Fava beans
What is the most commonly inherited disease in white populations?
CF
What are the types of allergic rhinitis?
Seasonal
Perennial
Occupational
Where are IgD antibodies expressed?
Plasma membranes of immature B lymphocytes
When does classical typhoid fever typically begin?
7-10 days following ingestion of bacteria
In which condition is hyposensitisation proven?
Wasp venom allergy
What is pica?
A disorder characterised by a compulsive desire to eat items of no nutritional value
Name some causes of a microcytic anaemia
Thalassaemia
Pica
Sideroblastic anaemia
Iron deficiency
At what age to patients typically present with signs and symptoms of SCID?
Before 3 months
What is SCID?
A syndrome characterised by recurrent infections, dermatitis, diarrhoea and failure to thrive
What can myelodysplasia progress to?
AML in 30% of cases
What is homocystinuria?
Autosomal recessive deficiency of cystathionine beta synthase which breaks down homocysteine to cystathionine
Accumulation of homocysteine leads to a multi-system disorder of the CNS, musculoskeletal and cardiovascular systems
Which type of blood product has the highest risk of contamination?
Platelets
What is the typical age of presentation for CML?
60-70 years
What is the first line treatment for CML?
Imatinib (tyrosine kinase inhibitor)
What is the typical DIC blood picture?
↓ platelets
↓ fibrinogen
↑ PT & APTT
↑ fibrinogen degradation products
What is Evan’s syndrome?
ITP in association with autoimmune haemolytic anaemia (AIHA)
Name some causes of massive splenomegaly
Myelofibrosis
Chronic myeloid leukaemia
Visceral leishmaniasis (kala-azar)
Malaria
Gaucher’s syndrome
How do you manage an acute sickle cell crisis?
analgesia e.g. opiates
rehydrate
oxygen
consider antibiotics if evidence of infection
blood transfusion
indications include: severe or symptomatic anaemia, pregnancy, pre-operative
do not rapidly reduce the percentage of Hb S containing cells
exchange transfusion
indications include: acute vaso-occlusive crisis (stroke, acute chest syndrome, multiorgan failure, splenic sequestration crisis
rapidly reduce the percentage of Hb S containing cells
Name some treatment options for latent TB
3 months of isoniazid (with pyridoxine) and rifampicin, or
6 months of isoniazid (with pyridoxine)
