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STEP1 > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

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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
Congenitalerythropoeitie porphyria
Anemia andphotosensitiveskin Uroporphyrinoger 3 synthase
26
Erythroporiticprotoporphyria
Childhood Painful non-blisteri Ng photosensitivity Anemia Gallstones
27
Acute intermittent porphyria
Ab pain Tachycardia Peripheral and motor neuron s x - pain, numbness, tingling weaknessprogressive upper to lower Depression Port wine urine Exacerbated by p450 induces
28
PorphyriaCutaneatarda
Chronic blistering Elevated hepatictransaminases Often dt spontaneousnon-hereditarymutations
29
Acute intermittent porphyria enzyme
Porphobilinogen deaminase
30
Quad screendown's
Msafp and estriol low B-hcg and inhibin A high
31
Quad screenedward's
All low
32
Edward's syx
Trisomy 18 Severe intellectual disability Micrognathia Overlapping fingers Low ears Congenital heart defects Renal defects 1 year mortality
33
Pata u syx
Trisomy 13 Severe intellectualdisabiity Cutis aplasia Microcephaly Cleft palate Polydactyl Umbilical hernia Congenital heart defects Renal defects 1 year mortality
34
Heart defects Turner's
Bicuspid aortic value Aortic coarctation
35
Cause trinucleotide repeat expansion
DNA polymerase slippage Tendency to detach from template when encounteringexcess repeats
36
Huntington'sgenetics
CAG repeat >40 Disease possible>35 repeats Protein polyglutami nation
37
Myotonic dystrophy type I genetics
CTG >50 DMPK 3' UT R Toxic RNA accumulation
38
Friedrich ataxiagenetics
GAA >100 chromosome 9 frataxin intron Decreased gene expression Autosomal recessive
39
Fragile x genetics
CGG >200 FMR1 5' UTR x chromosome Promotor methylation and silencing X dominant
40
Friedrich ataxiadlinical
Muscle weakness Loss vibratory sense Diabetes Hypertrophic cardiomyopathy Kyphoscoliosis
41
Fragile x denial
Intellectual disability Autism Macro-orchidism
42
Prader will i syx
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
Angelmansyx
Moderate intellectual disability Seizures Minimal speech Ataxia I appropriate laugher
44
Prader will i genetics
Paternal microdeletion 15q11-q13 Or maternal uniparental disomy
45
Angelman genetics
Maternal microdelation 15q11-q13 Or paternal uniparentedisomny
46
Ivacaftor
Cftr agonist Cf t x
47
Lumacaftor
Improves conformational stability of f508 mutation and this trafficking of mature CF TR proteinto cellsurface Used in combotherapy with ivacaftor for Cf
48
Most common Cf mutation
Delta- f508
49
Diagnostic test Cf
Qpit = sweat test
50
Screening test Cf
IRT
51
cleft lip/palate risks
spontaneous - most FHx DiGeorge - 22q11.2 Patau - tri13 Edwards - tri18
52
Pierre Robin sequence
congenital micrognathia glossoptosis - posterior displacement or retraction cleft palate can obstruct airway, difficulty swallowing/suckling mostly SOX9 mutations
53
choanal atresia
failed dev of choana in nasal sinuses difficulty breathing through nose in infants (obligate nose breathers), cyanosis feeding, improves crying (mouth breathing)
54
Tet spell
tetralogy of fallot cyanosis when crying/agitated improves with squatting
55
TEF
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
secondary causes pulmonary hypoplasia
oligohydraminos - IUGR - Potter sequence - renal malformation SOL - diaphragmatic hernia - enlarged heart abnormal diaphragmatic activity "practice breathing" - CNS - NMJ
57
CDH
congenital diaphragmatic hernia diaphragm hole --> bowels in chest, usually left side often --> pulmonary hypoplasia "can't miss" respiratory distress at birth
58
bochdalek hernia
CDH Back Left
59
morgagni hernia
CDH anterior Right
60
signs severe CDH
- cyanosis - respiratory failure - scaphoid abdomen (sunken) - barrel chest - bowel sounds in chest - pulmonary hypertension
61
later complications CDH
infants/later childhood: - lung infection - obstructive lung disease - GERD - recurrent hernia
62
21-hydroxylase deficiency
congenital adrenal hyperplasia low mineralocorticoids low glucocorticoids high androgens in girls: virilization, ambiguous genitals salt wasting
63
11ß-hydroxylase deficiency
low glucocorticoids high mineralocorticoids high androgens hypertension hypo-K girls: virlization, ambiguous genitalia
64
17a-hydroxylase deficiency
low androgens high mineralocorticoids high glucocorticoids hypertension low K boys: lack of virilization, ambiguous genetalia; severe: phenotypically female
65
Marfan's
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
EDS
group of disorders collagen formation/structuring skin and joint hypermobility cause of death: aortic rupture, etc.
67
homocystinuria
cysathionine synthase deficiency high circulating homocysteine marfanoid habitus risk of premature atherosclerotic CV disease
68
osteogenesis imperfecta
type I collagen (bones) low bone mass fragility fractures blue sclera dental anomolies hearing loss
69
causes of 46XY--> F phenotype
most common: androgen insensitivity syx (androgen R mutation) 17-a-hydroxylase deficiency (also causes hypertension and hypo-K)

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