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Senoir paeds > SICKLE CELL DISEASE > Flashcards

SICKLE CELL DISEASE Flashcards

1
Q

The term SCD includes all the conditions in which the clinico- pathological manifestations are attributable to the _________________________ in association with another haemoglobin variant.

A

presence of sickle haemoglobin (Hb S)

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2
Q

EPIDEMIOLOGY

___________ has the largest burden of SCD in the world.

A

Nigeria

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3
Q

Genetics of SCD

SCD is a common genetic problem with enormous challenges.

It is inherited as autosomal ___________ genes
The affected gene is located in the _____ codon of chromosome ______

A

recessive

6th; 11

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4
Q

The Hb S is due to a ___________ mutation resulting in the replacement of __________ by __________ in the ___th amino acid position of the _____ chain of normal haemoglobin, Hb ____

A

single point

glutamic acid ; valine

6th ; ß

A

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5
Q

HEMOGLOBIN GENOTYPES
There are 4 important genotypes among patients of West African origin:
______ disease (Sickle cell anaemia)
______ disease
______________
_________________

A

SS disease (Sickle cell anaemia)
SC disease
Sß+ thalassaemia
Sß0 thalassaemia

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6
Q

Implications of HbS

The red blood cells (RBC) in HbSS have low __________________________, this disfigures them into the peculiar sickle shape and stimulates _________ into aggregates of dense fractions.

These are either removed ( ____________ ) and/or destroyed ( _____________ ) by R.E.S. (________/__________ )

A

oxygen carrying capacities

stickiness

sequestrated; haemolysed

spleen/liver

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7
Q

Implication of HbS /2

The dense cells of the RBC cohort have an adhesive tendency towards _______________

The injury to the vascular endothelium triggers the ___________ pathway. This partly explains the _________________________ and reactive thrombocytosis seen in SCD

A

vascular endothelium

coagulation

thomboembolism platelet consumption

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8
Q

Implication of HbS /3

Vaso-occlusion results from:
_____________ damage from sRBC adhesion
platelet _____________ in the _____________
thrombocytosis
_________ dehydration occassioned by hyposthenuria

All these lead to ____________ in the micro –circulation.

A

endothelial ; aggregation ; micro circulation

chronic ; sludging

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9
Q

A high level of ______ haemoglobin (Hb___) is known to prevent the ___________ of deoxygenated HbS and thereby ameliorates the severity of the disorder

A

fetal; F

polymerization

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10
Q

Implication of HbS /4

The end results of repeated sequestration and haemolysis are (a) __________ and (b) __________ /compensatory __________.

Whilst the protein component of the haemolysed RBC is ________________ , the iron containing haem component is deposited in the __________, __________ and __________; excess of which can cause __________.

When breakdown of RBC exceeds excretion, it results in __________ and __________ disease

A

anaemia ; hypersplenism

thrombo- cytosis.

excreted in urine,

liver, kidney and heart

haemosiderosis. ; jaundice ; gall bladder disease

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11
Q

Implication of HbS /5
Repeated tissue anoxia/infarction in:-
KIDNEYS- __________ Dsease
BRAIN - ————,_______
LUNGS - ___________
GUS - __________
EYES - __________

A

Proliferative glomerular

CVA, Seizures

Acute chest syndrome (ACS)
Priapism
Proliferative retinopathy

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12
Q

Implication of HbS /5
Repeated tissue anoxia/infarction in:-

LIVER - _______________
SPLEEN - ____________
HEART - ____________

A

Hepatomegaly
Fibrosis/ Cirrhosis.

Autosplenectomy

Ischemic heart disease

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13
Q

Implication of HbS /5
Repeated tissue anoxia/infarction in:-

BONE -

__________ crisis (BPC)
Aseptic _____________________
_____________

A

Bone pain

necrosis of head of femur

Osteomyelitis

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14
Q

Implication of HbS /6
Immunity - _____________ arising from repeated infarcts in the spleen is largely responsible for the diminished immunity in SCD

A

Autosplenectomy

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15
Q

DIAGNOSIS

Pre-natal diagnosis (PND)
•__________ guided __________ sampling in the __________ trimester of pregnancy

•___________________________ diagnosis (PIGD) The diagnosis requires polymerase chain
reaction (PCR) to amplify DNA for analysis

A

ultrasound ; chorionic villus ;first

pre-implantation genetic diagnosis (PIGD)

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16
Q

DIAGNOSIS /2
•__________ test
1% Sodium methabisulphite
__________ test

•Hb genotype
Cellulose acetate electrophoresis
Agar gel electrophoresis
Fast track test

A

Sickling test
Solubility test

17
Q

Clinical Manifestation

A

Sß0 thalassaemia

SC and Sß+ thalassaemia

proliferative sickle retinopathy.

18
Q

Natural History:
It is found where falciparum malaria is or was endemic
In unchecked falciparum malaria areas

_____ are fit (can survive malaria)
____ are less fit
____ are unfit

A

AS
AA
SS

19
Q

Natural History: ……contd.
The baby is usually ________ at birth
Diagnosis of the condition can be made at birth using _______________
Between 4 – 6 months of age baby can develop _______________ crisis
By the age of 9 months – 1year baby may develop ______________

A

normal

agar –gel electrophoresis

acute splenic sequestration

hand and foot syndrome

20
Q

CLINICAL PRESENTATION (general)

_________
__________
Sickle cell habitus:
-_________
-________
-____________ limbs
- Delayed growth and development

A

Pallor
Jaundice

Frontal bossing; Prognatism

Thin and long

21
Q

CLINICAL PRESENTATION /2
Anaemic crises:

_____________
Megaloblastosis
________ anaemia
Hyper-__________

A

Splenic sequestration

Aplastic; haemolysis

22
Q

CLINICAL PRESENTATION /3
Vaso-Occlusive crises:

List 6

A

Dactylitis
Bone pain crises
Bone infarction / infection Acute chest syndrome Priapism
Stroke

23
Q

CLINICAL PRESENTATION /5a
Stroke is a major neurological complication in SCD.
In children, it results from __________ due to arterial narrowing or occlusions of intracranial arteries.
It involves _________-artery disease of the internal carotid and anterior and middle cerebral arteries of the Circle of Willis.
In adults it is usually ____________.

A

cerebral infarction

large; haemorrhagic

24
Q

Studies have shown that “silent” lesions occur on MRI studies even in the absence of clinical signs.
These silent lesions are known as _____________________
They are diagnosed as _______ values on ___________________ (TCD) ultrasound examinations and are associated with a high risk of stroke

A

Silent Cerebral Infarcts (SCI).

high flow

transcranial doppler

25
Q

CLINICAL PRESENTATION /5c
In children with SCA, SCI are prominent in infants and toddlers younger than ________of age.
SCI is seen in MRI in 22% of Hb-SS patients and 6% of SC disease.
Prevalence of SCI in Nigerians with SCA is not known.

A

4 years

26
Q

Clinical presentation

Current guidelines recommend ______________ therapy for patients who have stroke and those with abnormal TCD findings before they become symptomatic (when they have flow velocities greater than ______ cm/sec).

A

indefinite transfusion

200

27
Q

CLINICAL PRESENTATION /5e
Although TCD screening is clearly predictive, this facility is almost non existent in Nigeria
Chronic blood transfusions is impracticable due to unavailability of regular blood supply and adequate screening.
____________ (HU) is recommended for prevention of recurrent stroke.
HU is started at _____ mg/kg/d and escalated to
_____mg/kg/d while the child’s HbF response and possible hematologic toxicity are being monitored

A

Hydroxyurea

15; 30

28
Q

CLINICAL PRESENTATION /5f
Approximately 5% to 10% of children with SCD will develop a stroke, most often in the _______ decade of life.
The peak incidence of stroke occurs in children between the ages of ____ and _______ years

A

first

2 and 10

29
Q

CLINICAL PRESENTATION /6
ADOLESCENTS
Acute manifestations continued:
________
______ ulcer
Acute _______________
Stroke

A

Priapism
Leg

multi-organ failure

30
Q

CLINICAL PRESENTATION /7
Chronic manifestations include:
Functional __________
________________ of the hip
_____________
Cholelithiasis

A

asplenia

Avascular necrosis

Hyposthenuria

31
Q

MANAGEMENT
GENERAL
Regular clinic attendance
- Daily __________ intake
- Daily __________ intake
- Daily __________ intake + - __________ vaccine
- __________ check
Avoid __________ and __________; Keep (cold or warm?).
Good nutrition

A

folic acid
proguanil
oral penicillin intake + - Pnumovax vaccine
Haemoglobin
dehydration; Stress; warm.

32
Q

MANAGEMENT /2
SPECIFIC TREATMENT:
Intravenous hydration
___________
________ therapy
Antibiotics
Blood transfusion
Anti-sickling agents e.g____________
Appropriate surgery
Prosthesis

A

Analgesics
Oxygen

Hydroxyurea

33
Q

MANAGEMENT /4
OTHER MODLITIES OF TREATMENT:
____________ transplantation
? Gene therapy

A

Bone marrow

Senoir paeds (25 decks)

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