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STEP1 > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

Lipid disorderassociated with pancreatitis

A

Familial hyperchylomiron Mia
And anytime trigglerides >1000

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2
Q

Dyslipidemiaassociated with palmarxanthomas

A

Familialdysbetalipoproteinemia

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3
Q

Statins

A

InhibitHMG-COAreductase.
For cholesterol - use fibrates for triglycerides

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4
Q

Von girke disease

A

G6PD deficiency
Fasting hypoglycemia, hepatomegaly, high lactate,cholesterol, tris, uric acid
Infants
Poor growth, doll face,distended ab.
Seizure coma deathdisabilityrelated to severe and recurrenthypoglycemia
Good px w/ t x

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5
Q

Pompedisease

A

Lysosomal acid a-glucocisdase
Hypotonia, weakness cardiomegaly, mortality

Classic- infancy
Macroglossiaweakness hypotonia . hypertrophiccardiomyopathy hepatomegaly 2’ heart failure

Elevated ck = muscle damage

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6
Q

Cori disease

A

Debranching enzyme a-1,6- glycosidesdeficiency
Like g6pd but milder s normal lactate.
May showmusclesx

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7
Q

Mcardle disease

A

Exercise intolerance, myoglobinuria,muscle cramps,second wind phenomenon

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8
Q

Glycogen storagediscase genes

A

All autosomal recessive

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9
Q

Tay sacks gene enzyme substrate

A

Hexosaminidsase A
GM 2 ganglioside

Ashkenazi s Cajun and French Canadian

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10
Q

Tay sacks symptoms

A

Progressive neuro
Infancy
Cherry red spotmacula
2-3 year mortality

No repatosplenomegily

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11
Q

Neumann pick path

A

Sphingomyelinase
Siphingomgelin
Ashkenazi

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12
Q

Niemann pick clinical

A

Prog neuro
Cherry red spot
Hepatosplinomegaly

Type A infants early mortalit y
Type B later childhood no neuro early adult mortality
Typ c variable onset early adult mortality

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13
Q

Gaucher disease path

A

Glucocerebrosidase
Glucocerebroside

Ashkenazi

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14
Q

Gaucher, disease clinical

A

Anemia
Thrombocytopenia
Bone problems
Hepatic splenomegaly
Gaucher (foam) cells in bm

Tx enzyme replacement

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15
Q

Fabry disease path

A

X- linked recessive
a -galactosidase A
Ceramide trihexosidas

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16
Q

Fabry disease clinical

A

Renal
Cv
Peripheral neuro
No sweat
Angiokeratomas

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17
Q

Hurler syx path

A

a-L-iduronidase
He paran and dermatansulphate
Mucopolysacdarideosis

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18
Q

Hurler Syx clinical

A

Dev delay
Coarse faces
Airway obstruction
Corneal clouding
Hepatosplenomegaly
Cv cause of death childhood

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19
Q

Hunter syx

A

Mild Er hurler deathadolescene
Aggression
No corneal clouding

Iduronate-2-sulfat ase
He paran and dermatan sulfaate
X linked recessive

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20
Q

Fructose and galactose metabolismdisorders genetics

A

All autosomarecessive

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21
Q

Aldolase - B deficiency

A

Hereditary fructose intolerance
Fructose -1-paccumulation

Hypoglycemia seizures gi upset repatomegulyjaundice cirrhosis failure to thrive
Tx avoid fructose

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22
Q

Fructokinase deficiency

A

Essential fructosuria
Usually asymptomatic

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23
Q

Galt deficiency

A

Classic galactosemiia
Aka uridydyl transferase
Galactose-1-paccumulation
Similar consequences and presentation as hereditary fruetose intolerance
Risk of e col i sepsis.
Cataracts

Tx no galactose mainly dairy

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24
Q

Galactokinase deficiency

A

Mild
Early life cataracts

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25
Q

Congenitalerythropoeitie porphyria

A

Anemia andphotosensitiveskin
Uroporphyrinoger 3 synthase

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26
Q

Erythroporiticprotoporphyria

A

Childhood
Painful non-blisteri Ng photosensitivity
Anemia
Gallstones

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27
Q

Acute intermittent porphyria

A

Ab pain
Tachycardia
Peripheral and motor neuron s x - pain, numbness, tingling weaknessprogressive upper to lower
Depression
Port wine urine
Exacerbated by p450 induces

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28
Q

PorphyriaCutaneatarda

A

Chronic blistering
Elevated hepatictransaminases
Often dt spontaneousnon-hereditarymutations

29
Q

Acute intermittent porphyria enzyme

A

Porphobilinogen deaminase

30
Q

Quad screendown’s

A

Msafp and estriol low
B-hcg and inhibin A high

31
Q

Quad screenedward’s

A

All low

32
Q

Edward’s syx

A

Trisomy 18
Severe intellectual disability
Micrognathia
Overlapping fingers
Low ears
Congenital heart defects
Renal defects
1 year mortality

33
Q

Pata u syx

A

Trisomy 13
Severe intellectualdisabiity
Cutis aplasia
Microcephaly
Cleft palate
Polydactyl
Umbilical hernia
Congenital heart defects
Renal defects
1 year mortality

34
Q

Heart defects Turner’s

A

Bicuspid aortic value
Aortic coarctation

35
Q

Cause trinucleotide repeat expansion

A

DNA polymerase slippage
Tendency to detach from template when encounteringexcess repeats

36
Q

Huntington’sgenetics

A

CAG repeat >40
Disease possible>35 repeats
Protein polyglutami nation

37
Q

Myotonic dystrophy type I genetics

A

CTG >50 DMPK 3’ UT R
Toxic RNA accumulation

38
Q

Friedrich ataxiagenetics

A

GAA >100 chromosome 9 frataxin intron
Decreased gene expression
Autosomal recessive

39
Q

Fragile x genetics

A

CGG >200 FMR1 5’ UTR x chromosome
Promotor methylation and silencing
X dominant

40
Q

Friedrich ataxiadlinical

A

Muscle weakness
Loss vibratory sense
Diabetes
Hypertrophic cardiomyopathy
Kyphoscoliosis

41
Q

Fragile x denial

A

Intellectual disability
Autism
Macro-orchidism

42
Q

Prader will i syx

A

Floppy baby sy.x
Hypotonia → failure to thrive and feedingdofficulties
Progresses tohyperphagia and associatedobesity and diabetes in later childhood and adulthood

Moderate intellectualimpairment
Learning disability
Hypoojonadism

43
Q

Angelmansyx

A

Moderate intellectual disability
Seizures
Minimal speech
Ataxia
I appropriate laugher

44
Q

Prader will i genetics

A

Paternal microdeletion 15q11-q13
Or maternal uniparental disomy

45
Q

Angelman genetics

A

Maternal microdelation 15q11-q13
Or paternal uniparentedisomny

46
Q

Ivacaftor

A

Cftr agonist
Cf t x

47
Q

Lumacaftor

A

Improves conformational stability of f508 mutation and this trafficking of mature CF TR proteinto cellsurface
Used in combotherapy with ivacaftor for Cf

48
Q

Most common Cf mutation

A

Delta- f508

49
Q

Diagnostic test Cf

A

Qpit
= sweat test

50
Q

Screening test Cf

A

IRT

51
Q

cleft lip/palate risks

A

spontaneous - most
FHx
DiGeorge - 22q11.2
Patau - tri13
Edwards - tri18

52
Q

Pierre Robin sequence

A

congenital micrognathia
glossoptosis - posterior displacement or retraction
cleft palate
can obstruct airway, difficulty swallowing/suckling

mostly SOX9 mutations

53
Q

choanal atresia

A

failed dev of choana in nasal sinuses
difficulty breathing through nose
in infants (obligate nose breathers), cyanosis feeding, improves crying (mouth breathing)

54
Q

Tet spell

A

tetralogy of fallot
cyanosis when crying/agitated
improves with squatting

55
Q

TEF

A

tracheal esophageal fistula
failure of trachea to fully separate from esophagus during development
embryonic stage wk 4-7

often associated with:
- vertebral defects
- anal atresia
- cardiac tefects
- renal abnormalities
- limb anomalies

complications immediate after birth:
- drooling/choking
- respiratory distress
- aspiration pneumonia
- feeding difficulties

56
Q

secondary causes pulmonary hypoplasia

A

oligohydraminos
- IUGR
- Potter sequence - renal malformation
SOL
- diaphragmatic hernia
- enlarged heart
abnormal diaphragmatic activity “practice breathing”
- CNS
- NMJ

57
Q

CDH

A

congenital diaphragmatic hernia
diaphragm hole –> bowels in chest, usually left side
often –> pulmonary hypoplasia
“can’t miss”
respiratory distress at birth

58
Q

bochdalek hernia

A

CDH Back Left

59
Q

morgagni hernia

A

CDH anterior Right

60
Q

signs severe CDH

A
  • cyanosis
  • respiratory failure
  • scaphoid abdomen (sunken)
  • barrel chest
  • bowel sounds in chest
  • pulmonary hypertension
61
Q

later complications CDH

A

infants/later childhood:
- lung infection
- obstructive lung disease
- GERD
- recurrent hernia

62
Q

21-hydroxylase deficiency

A

congenital adrenal hyperplasia
low mineralocorticoids
low glucocorticoids
high androgens
in girls: virilization, ambiguous genitals
salt wasting

63
Q

11ß-hydroxylase deficiency

A

low glucocorticoids
high mineralocorticoids
high androgens
hypertension
hypo-K
girls: virlization, ambiguous genitalia

64
Q

17a-hydroxylase deficiency

A

low androgens
high mineralocorticoids
high glucocorticoids
hypertension
low K
boys: lack of virilization, ambiguous genetalia; severe: phenotypically female

65
Q

Marfan’s

A

fibrillin-1 defect - component of microfibrils that surround elastin fibers

long thin extremities, lose joints, long fingers
cause of death:
- aortic root dilation/dissection/rupture
- spontaneous pneumothorax
- other cardiovascular complications

66
Q

EDS

A

group of disorders
collagen formation/structuring
skin and joint hypermobility
cause of death: aortic rupture, etc.

67
Q

homocystinuria

A

cysathionine synthase deficiency
high circulating homocysteine
marfanoid habitus
risk of premature atherosclerotic CV disease

68
Q

osteogenesis imperfecta

A

type I collagen (bones)
low bone mass
fragility fractures
blue sclera
dental anomolies
hearing loss

69
Q

causes of 46XY–> F phenotype

A

most common: androgen insensitivity syx (androgen R mutation)
17-a-hydroxylase deficiency (also causes hypertension and hypo-K)

STEP1 (15 decks)

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