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LS YEAR 4 Paediatrics > Genetics and nutrition > Flashcards

Genetics and nutrition Flashcards

1
Q

what is malnutrition?

A

imbalance in nutritional requirements needed for function and growth.

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2
Q

three common measures in children

A

stunting
underweight
muscle wasting

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3
Q

what is kwashiorkor caused by

A

protein deficiency

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4
Q

what causes. marasmus

A

severe energy deficiency

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5
Q

what can cause these two conditions

A 
diet lacking protein
strict vegetarian diets
diseases causing malabsorption 
severe GORD
chronic infection
IBD
CF
eating disorders such as anorexia nervosa
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6
Q

symptoms of klwaskhior

A 
growth retardation 
diarrhoea
apathy
anorexia
oedema
skin /hair depingmentation
abdominal distention
fatty liver
hbypoalnumnia
reduced Hb
stools for custs
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7
Q

symptoms of marsamsus

A 
height preserved compared to weight
wasting 
muscle atrophy
lethargy
D and C
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8
Q

how do you investigation malnutrition

A 
food diaries
BMI
tricep bicep thickness 
waist circumference
recent weight loss
midd arm circumference / head circumference 
serum albumin
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9
Q

what is themidd arm circumference / head circumference ratio considered as malnutrition

A

<0.31

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10
Q

management of malnutrition

A

correct dehydration and electrolyte imbalance
treat underlying infection
treat underlying nutritional deficiencies
oral refeed SLOWLY

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11
Q

what is rickets/vitamin D deficiency ?

A

disorder of growing skeleton due to inadequate mineralisation of the bone as it is lead done at epiphyseal growth plates

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12
Q

what is its key characteristic

A

widening of the ends of long bones

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13
Q

what is osteomalacia

A

inadequate mineralisation of mature bone

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14
Q

causes of rickets

A

lack of vitamin D and calcium due to inadequate sun exposure and dietary intake respectively
malabsorptive conditions
drug induced- phenytoin
defect in vitamin D metabolism or action
phosphate defiency
RENAL TUBULAR ACIDOSIS

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15
Q

the name of the enzyme which can cause deficency

A

1 alpha hydrooxylase enzyme deficiency

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16
Q

name a syndrome where acquire hypophosphatemia can cause rickets

A

fanconi syndrome

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17
Q

clinical features of rickets

A 
growth delay or arrest
frequent fractures
muscle weakness
bone paiin
skeletal deformities -swelling of wrist
bowing of long bones
18
Q

diagnosis

A

lab results
-vitamin D, cal, phosphate , PTH, ALP results
radiology

19
Q

management

A

calcitrol replacement and supplementation.

20
Q

what is the mutation with Down syndrome

A

trisomy 21

21
Q

what are the common features of Down syndrome

A 
slanted upwards eyes
shortened stature 
single palmar crease
small mouth and protruding tongue 
hypotonia
22
Q

long term complications of downs syndrome

A

cvd, hypothyroidism, visual and hearing impairment

23
Q

what is Edward syndrome?

A

trisomy 18

majority die in utero

24
Q

presentation of Edward syndrome

A 
low birth weight
small abnormally shaped head
cleft palate
low set ears
exompathlos
heart kidney feeding g breathing problems
learning diffculities
25
Q

what is mutation the in patau syndrome

A

3 copies instead of 2 of car 13

26
Q

presentation of patau syndrome

A 
microphetamola
cutis aplasia -less skin of scalp
absence of eyes 
reduced distance between eyes
haemangioma
deafness
microcephaly
27
Q

Turner syndrome

A

only one X chromosome

28
Q

presentation of turner

A

shorter than average
no periods
infertility
thick neck tissue

29
Q

prader willi syndrome

A 
deletion of chr 15 
continuously hungry
behavioural and learning diffculities
obesity and diabetes
slecrosis sometimes 
weak muscles
30
Q

pierre robin syndrome

A

small mandible
posterior displacement of tongue
upper airway obstruction
cleft palate

31
Q

what is Pierre robin syndrome seen with

A

fetal alcoholic syndrome
stickler syndrome
teacher Collin syndrome

32
Q

William syndrome

A 
affecting chronic 7 
overly friendly-cocktail party 
chatty
large forehead 
flat nose 
short in stature 
may be intellectually impairment 
eye involvement in many
33
Q

cardiac involvement in William syndrome

A

aortic stenosis

34
Q

what is Noonan syndrome

A

autosomal dominant
example of common gene PTPN11
failure to thrive
motor developmental delay-therefore clumsy

35
Q

what are the congenital heart defects in noonan

A

ASD

pulmonary valve stenosis

36
Q

what is fragile x

A 
mutation in fmr1 gene on chr x 
causing large ears
long narrow face
big testicles
hyperactivity and seizures 
low muscle tone
high arched palate
CGG repeats increase
37
Q

what is kleinfelter syndrome

A

xxy 47 in males
present with infertility, small tesicles low muscle tone
sex drive lower
gynaeocstomatic

associated with cvd
siabetes
hypothyroidism
osteoporsis

38
Q

autosomal dominant

A 
Achondroplasia
Huntington’s disease
Polyposis Coli 
Marfan Syndrome
Tuberous sclerosis
Mytonic dystrophy
Von Willebrand disease
39
Q

autosomal recessive

A 
Cystic Fibrosis
Phenylketonuria
Sickle cell Disease
Thalassaemia
Various inborn errors of metabolism (i.e. congenital adrenal hyperplasia)
40
Q

x linked

A 
Fragile X
Duchenne muscular dystrophy
Haemophilia A and B
G6PD deficiency
Red green colour blindness

LS YEAR 4 Paediatrics (24 decks)

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