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BCEM Flashcards

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1
Q

Orotic Aciduria

Inher, Mech, Pres (Epi + 4), Micro Finding, RX?

A

AR.

Defect in UMP Synthase ->
Inability to convert Orotic acid -> UMP
(De Novo Pyrimidine Syn pathway).

PRES: Children

  • Failure to thrive
  • Megaloblastic Anemia CAN’T be cured by Vit B9 or B12
  • Glossitis
  • Orotic acid in urine

FINDING:
- Hypersegmented Neutrophils

RX = UMP (allows bypassing of mutated enzyme)

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2
Q

a-amanitin Ingestion

(found in Amanita phalloides = “death cap” mushrooms)

Mech & Pres?

A

Inhibits RNA Polymerase II -> Severe hepatotoxicity

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3
Q

I-Cell (Inclusion Cell) Disease

Classification, Mech (3 steps), Pres (3), Labs?

A

Inherited. Lysosomal Storage Disorder.

MECH:
Defect in Phosphotransferase -> Failure of Golgi to phosphorylate MANNOSE residues on glycoproteins (ie↓mannose-6P) -> Proteins secreted extracellularly rather than delivered to lysosomes.
** Often fatal in childhood. **

PRES:

  • Coarse facial features
  • Clouded corneas
  • Restricted joint movement

LABS:
- High lysosomal enzymes

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4
Q

Chediak-Higashi Sx

Genetics, Mech (2), Pres (3)?

A

Mutation in LYST gene (lysosomal trafficking regulator).

  • ↓fusion of lysosomes & phagosomes
  • ↓microtubule sorting of endosomal proteins
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5
Q

Kartagener’s Sx (1ry ciliary dyskinesia)

Mech, Pres (4), Comp?

A

Immotile cilia due to defective dynein arm.

PRES:

  • Infertility (ie immotile sperm and dysfunctional fallopian tube cilia)
  • Situs Inversus
  • Bronchiectasis
  • Chronic Sinusitis (particles and bacteria not pushed out)

COMP:
-↑risk of ectopic pregnancy

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6
Q

Osteogenesis Imperfecta (“Brittle Bone Disease”)

Def’n, Inher, Mech, Pres (4)?

A

Congenital defect of bone RESORPTION -> structurally WEAK bone.

AD.

Deficiency (↓production) of Type 1 Collagen.
Inability to form Procollagen (defective glycosylation of
pro-a-chain hydroxylysine).

PRES:
- “Blue sclera” (thin collagen on sclera => can see underlying
choroidal veins = blue.
THINK: You can see veins under thin skin.)
- Multiple bone fractures with minimal trauma (may occur during birth)
- Hearing loss (fracturing of middle ear bones = ossicles)
- Dental imperfections (lack of dentin)

** May be confused with child abuse **

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7
Q

Ehlers-Danlos Sx

Def’n, Mech (2 steps), Inher, Classification (3 types),
Pres (3), Comp / Assoc (3)?

A

Deficiency of Type III Collagen (faulty synthesis).

Mutation in Type V Collagen ->
Defective Tropocollagen CROSS-LINKING.

Autosomal.

CLASSIFICATION:

    • Hypermobility type
  • Classical type (mutation in Type V Collagen -> joint + skin pres)
  • Vascular type (Type III Collagen def -> vascular + organ pres)

PRES:

  • Hypermobile joints
  • Elastic skin
  • Easy bruising / tendency to bleed

COMP / ASSOC:

  • Aortic + Berry Aneurysms
  • Organ rupture
  • Joint dislocation
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8
Q

Menkes Dz

Def’n, Mech (2 steps), Pres (3)?

A

Connective tis dz.

Impaired Cu abs + transport ->↓activity of Lysyl Oxidase.

PRES:

  • “Brittle + kinky hair”
  • Growth retardation
  • Hypotonia
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9
Q

Alport Sx

Mech (2), Inher, Pres (3)?

A
  • Defective Type IV Collagen due to mutation.
  • Thin + split GLOMERULAR BM -> defective ability to filter blood.

XR (MC)

PRES:

  • Deafness
  • Cataracts / ocular disturbances
  • Nephritic Sx
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10
Q

Marfan Sx

Mech, Pres (5), Comp (2)?

A

Fibrillin defect (Fibrillin-1 mutation).

PRES:

  • “Tall with long extremities” + Arachnodactyly (abnormally long + slender fingers and toes)
  • Hyperflexible / hypermobile joints
  • Lens dislocation + subluxation (usually upward + temporally)
  • Aortic incompetence (due to cystic medial necrosis of aorta)
  • Floppy Mitral valve

COMP:

  • Dissecting Aortic Aneurysm / Berry Aneurysm
  • Mitral
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11
Q

Familial Hypercholesterolemia

Mech (2 steps), Pres (2)?

A

Absent / defective LDL receptor ->↑LDL.

PRES:

  • Severe atherosclerosis early in life
  • Achilles tendon xanthoma
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12
Q

Mitochondrial Myopathies

List (3), Micro Finding?

A
  • Leber’s Hereditary Optic Neuropathy (acute loss of central vision)
  • Myoclonic Epilepsy
  • Mitochondrial Encephalopathy

FINDING:
- “Ragged red fibers”

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13
Q

Cystic Fibrosis
* MC lethal genetic dz in Caucasians*

Inher, Genetics, Mech (5 steps, 3 effects),
DX, Comp (8: 2 Resp, 4 GI, 1 Repro, 1 Vit), RX (2)?

A

AR.

Defect in CFTR, chr 7.

MECH:
Defective CFTR ->
Defective Cl channels in lungs, GI tract + sweat glands ->
↑intracel Cl ->
Compensatory↑Na + H20 reabs ->
ECF Na + H20 losses / RENAL K + H wasting.
(Analogous to taking Loop Diuretic)

  • THICK MUCUS secreted into lungs + GI tract
  • Hypokalemia
  • Contraction Alkalosis

DX:
-↑Cl (> 60) in sweat

COMP:

  • Recurrent pulm infections and chronic bronchitis / bronchiectasis
  • Nasal polyps
  • Meconium Ileus in newborns
  • Malabsorption / Steatorrhea
  • Cholesterol Stones
  • Pancreatic insuf
  • Infertility in Males (absent sperm)
  • Vit A, D, E, K deficiencies

RX:

  • N-acetylcysteine (to cleave disulfide bonds w/in mucus glycoproteins)
  • DNAse / Dornase Alfa (to clear leukocytic debris)
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14
Q

McCune-Albright Sx

Mech, Pres (4)?

A

Mosaic G-protein signaling mutation.

PRES:

  • Endocrine abnormalities
  • Precocious Puberty
  • Cafe-au-Lait spots
  • Polyostotic fibrous dysplasia
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15
Q

Muscular Dystrophies

3 Types, Inher, General Pres (2)?

A
  • Duchenne
  • Becker
  • Myotonic Type I

INHER: XR (Duchenne + Becker’s)

GENERAL PRES:

  • Muscle wasting
  • Myotonia
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16
Q

Duchenne Muscular Dystrophy

Genetics, Pres (Epi + 2), Lab Findings (2), DX (2), Comp?

A

FRAMESHIFT Deletion of Dystrophin gene.

PRES: Onset before 5 yrs

  • Weakness in pelvic girdle muscles that progresses superiorly
  • Pseudohypertrophy of calf muscles (due to fibrofatty replacement of muscle) -> Gower Maneuver

LABS:

  • ↑Aldolase
  • ↑CPK

DX:

  • Western Blot
  • Muscle biopsy

COMP:
- Dilated Cardiomyopathy

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17
Q

Becker Muscular Dystrophy

Genetics, Pres (Epi)?

A

POINT mutation in Dystrophin gene.

PRES: Onset in adolescence / early adulthood
* Less severe than Duchenne *

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18
Q

Myotonic Type I Dystrophy

Genetics, Pres (4)?

A

CTG trinucleotide repeat expansion in DMPK gene ->
Abnormal expression of Myotonin protein kinase.

PRES:

  • Frontal balding
  • Cataracts
  • Arrhythmia
  • Testicular atrophy
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19
Q

Fragile X Sx

Genetics, Pres (4)?

A

Trinucleotide repeat disorder (CGG) ->
Defect affecting expression and methylation of FMR1 gene.

PRES:

  • Long face with large jaw + large everted ears
  • Autism
  • Mitral Prolapse
  • Testes enlarged
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20
Q

Down Sx (Trisomy 21)

Genetics,
Pres (7: THINK: 4 above heart, heart, 2 below heart ),
1st Trimester U/S Findings (2), 2nd Trimester Quad Screen (4),
Comp (3)?

A
  • Meiotic ND (95%. Assoc w advanced maternal age)
  • Robertsonian Translocation (4%)
  • Mosaicism (1%)

PRES:

  • Intellectual disability
  • Flat facies and “single palmar crease”
  • “Gap between first two toes”
  • Brushfield Spots in eyes
  • Congenital HD (ASD or VSD)
  • Duodenal Atresia
  • Hirschsprung Dz

1st TRIMESTER U/S:

  • ↑nuchal translucency + hypoplastic nasal bone
  • PAPP-A↓

QUAD SCREEN:

  • a-fetoprotein↓
  • b-HCG↑
  • Estriol↓
  • Inhibin A ↑

COMP:

  • ASD (due to defects in ostium primum) + VSD
  • ALL + AML (AML usually before age 5)
  • Alzheimer’s
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21
Q

Edwards Sx (Trisomy 18)

Pres (Epi + 6: 3 above heart, heart, 2 re extremities),
1st Trimester U/S Finding, 2nd Trimester Quad Screen (4)?

A

PRES: Infant. Death usually within 1 yr of birth.

  • Microcephaly
  • Severe intellectual disability
  • Micrognathia (small jaw), low-set ears + prominent occiput
  • Congenital HD
  • Clenched hands
  • “Rocker-bottom” feet

1st TRIMESTER U/S:
- PAPP-A ↓

QUAD SCREEN: Everything ↓

  • a-fetoprotein↓
  • b-HCG↓
  • Estriol↓
  • Inhibin A↓or normal
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22
Q

Patau Sx (Trisomy 13)

Pres (Epi + 6: 3 above heart, heart, 2 re extremities),
1st Trimester U/S Findings (2)?

A

PRES: Infant. Death usually within 1 yr of birth.

  • Microcephaly / Holoprosencephaly
  • Severe intellectual disability
  • Microphthalmia + Cleft Lip / Palate
  • Congenital HD
  • Polydactyly
  • “Rocker-bottom” feet

1st TRIMESTER U/S:

  • ↑nuchal translucency
  • PAPP-A↓
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23
Q

Williams Sx

Genetics, Pres (2), Lab Findings, Comp?

Study These Flashcards
A

Congenital microdeletion of chr 7 long arm (incl Elastin gene).

PRES:

  • Intellectual disability, however good verbal skills and extreme friendliness with strangers
  • “Elfin” facies

LABS:
- Hypercalcemia (↑sensitivity to Vitamin D)

24
Q

Turner Sx (45 XO)

Pres (7)?

Study These Flashcards
A

PRES:

  • Cystic Hygroma (cystic lymphatic lesion) at birth
  • Congenital Heart Disease
  • Lymphedema
  • Short stature
  • “Webbed neck”
  • “Horseshoe kidney”
  • “Streak ovaries”
25
Angelman's Sx Mech, Genetics, Pres (4)?
Maternal allele should be active, however is not expressed. Paternal allele inactivated. Imprinting / Uniparental Disomy. PRES: "Happy puppet" - MR - Inappropriate laughter - Seizures - Ataxia
26
Prader-Willi Sx Mech, Genetics, Pres (5)?
Paternal should be active, however is not expressed. Maternal allele inactivated. Imprinting / Uniparental Disomy. PRES: - MR - Obesity - Hyperphagia - Hypotonia - Hypogonadism
27
Glycogen Storage Diseases 4 Subtypes, Etiology, Path, Inher?
- Von Gierke (Type I) - Pompe (Type II) - Cori (Type III) - McArdle (Type V) ET = Enzyme deficiencies PATH = Abnormal Glycogen METAB -> ACCUM of Glycogen in cells. AR.
28
Von Gierke Disease (Type I) Deficient Enz, Mech, Pres (2), Labs, RX?
Def Enz = Glucose-6-Phosphatase. MECH:↑Glycogen in Liver. PRES: - Severe fasting hypoglycemia - Hepatomegaly RX: Frequent oral glucose / cornstarch. *Avoidance of fructose + galactose*
29
Pompe Disease (Type II) Deficient Enz, Locations Affected (3), Pres (2), Prog?
Def Enz = Lysosomal a-1,4-glucosidase (acid maltase) def. - Muscle - Heart - Liver PRES: - Infantile Hypertrophic Cardiomyopathy - Exercise Intolerance PROG = early death.
30
Cori Disease (Type III) Deficient Enz, Def'n?
Def Enz = a-1,6-glucosidase (Debranching Enz). MILDER form of Type I / Von Gierke's. Gluconeogenesis intact. *** Normal Lactate levels ***
31
McArdle Disease (Type V) Def Enz, Mech, Pres (2), Urine?
Def Enz = Myophosphorylase (skeletal muscle glycogen phosphorylase). MECH:↑Glycogen in Muscle, however can't break it down. PRES: - Painful muscle cramps / fatigue / myalgias - Arrhythmias (due to electrolyte abnormalities) URINE: Myoglobinuria
32
Lysosomal Storage Diseases 2 Subtypes, Etiology, Path, Inher, Common Pres (4)?
- Sphingolipidoses - Mucopolysaccharidoses (Hurler + Hunter Sx) ET = Lysosomal enz def. PATH = Accum of abnormal substrates. AR EXCEPT Fabry + Hunter (XR). PRES: - Devel delay (T-S + Krabbe + Hurler/Hunter) - Progressive neurodegeneration (N-P + T-S) - Peripheral neuropathy (Fabry + Krabbe) - Hepatosplenomegaly (Gaucher + N-P + Hurler/Hunter)
33
Fabry Dz Def Enz / Substrate Accum, Pres (3)?
Def Enz = a-galactosidase A. Substrate = Ceramide trihexoside. PRES: *THINK: CARDIO* - CV / Renal dz - Angiokeratomas - Peripheral neuropathy
34
Gaucher Disease Def Enz / Substrate Accum, Locations (4), Pres (3), Micro Finding?
Def Enz = b-glucosidase / Glucocerebrosidase. Substrate = Glucocerebroside. - Brain - BM - Spleen - Liver PRES: - Pancytopenia - Hepatosplenomegaly - Bone crises (eg "aseptic necrosis of femur") FINDING: Gaucher cells
35
Niemann-Pick (N-P) Dz vs Tay-Sachs (T-S) Dz ``` Def Enz / Substrate Accum (N-P vs T-S), Common Pres (3), Distinguishing Pres (N-P), Micro Finding (N-P vs T-S)? ```
N-P: Sphingomyelinase / Sphingomyelin. T-S: Hexosaminidase A / GM2 Ganglioside. COMMON PRES: - Devel delay - Progressive neurodegeneration - "Cherry-red spot on macula" - Hepatosplenomegaly (N-P ONLY) FINDINGS: - N-P: Foam cells - T-S: Lysosomes with "onion skin"
36
Krabbe Dz Def Enz / Substrate Accum, Pres (3), Micro Finding?
Def Enz = Galactocerebrosidase. Substrate = Galactocerebroside psychosine. PRES: - Optic atrophy - Devel delay - Peripheral neuropathy FINDING: Globoid cells
37
Metachromatic Leukodystrophy Def Enz / Substrate Accum, Pres (3)?
Def Enz = Arylsulfatase A. Substrate = Cerebroside sulfate. PRES: *THINK: NEURO* - Demyelination - Dementia - Ataxia
38
Hurler vs Hunter Sx ``` Def Enz (vs) / Substrate Accum (2), Inher (vs), Common Pres (4), Distinguishing Pres (vs)? ```
Hurler: a-L-iduronidase Hunter: Iduronate sulfatase Substrates = Dermatan sulfate + Heparan sulfate. AR (Hurler) vs XR (Hunter). COMMON PRES: - Devel delay - "Gargoylism" - Hepatosplenomegaly - Airway obstruction - Corneal clouding (Hurler) - Aggression (Hunter)
39
Classic Galactosemia Def'n, Path, Pres (4), Comp (2), RX?
Absence of galactose-1-P uridyltransferase. PATH = Accum of toxic substances (ie galactitol). PRES: - Failure to thrive - Intellectual disability - Infantile Cataracts - Hepatomegaly + Jaundice COMP: - Phosphate depletion - E coli sepsis (Neonates) RX = Exclusion of galactose + lactose from diet
40
Urea Cycle Enzyme Deficiencies (2) Pres?
- N-acetylglutamate def / Carbamoyl P Synthetase I def * - Ornithine Transcarbamylase def PRES: - Hyperammonemia
41
Hyperammonemia Etiologies (2), Mech (3 steps), Pres (6), RX (3)?
ET: - Hereditary (eg Urea Cycle enzyme def) - Acquired (eg Liver dz) Excess NH4 -> Depletion of a-ketoglutarate -> Inhib of TCA Cycle. PRES: ('Ammonia Intoxication') - Cerebral Edema - Somnolence - Asterixis (tremor) - Blurred vision - Slurred speech - Vomiting RX: - Limit protein in diet - Benzoate / Phenylbutyrate (bind a.a -> excretion -> ↓NH4) - Lactulose (acidification of GI tract -> NH4 trapping -> excretion)
42
Ornithine Transcarbamylase Deficiency Inher, Mech, Pres (Onset + 1), Labs (2)?
XR (*unlike other 'urea cycle enz def' which are AR). EXCESS Carbamoyl P -> Orotic acid. PRES: First few days of life, however sometimes later. - Hyperammonemia LABS: - Orotic acid↑in bl / urine - BUN ↓
43
Phenylketonuria (PKU) Subtypes (2), Inher, Mech (3 steps), Pres (6), Urine, Screening / DX, RX (2 dietary)?
- Maternal (-> pres in infant) - Malignant (↓tetrahydrobiopterin cofactor, NOT ph hydroxylase) AR. ↓phenylalanine hydroxylase (= tyrosine becomes essential) -> ↑phenylalanine -> Excess phenylketones in urine. PRES: - Growth retardation - Intellectual disability - Seizures - "Musty body odor" (disorder of AROMATIC a.a metab) - Fair skin - Eczema URINE: Excess Phenylketones SCR = 2-3 days after birth RX: - ↑Tyrosine in diet (Tyrosine becomes essential) - ↓Phenylalanine in diet (eg aspartame)
44
Maternal PKU Etiology, Pres (in INFANT: 4)?
ET = Lack of proper dietary therapy during pregnancy. PRES (INFANT): - Growth retardation - Microcephaly - Intellectual disability - Congenital HD
45
Alkaptonuria / Ochronosis Def'n, Inher, Pres (4)?
Congenital def of Homogentisate Oxidase. (Enz in degradative pathway of tyrosine -> fumarate) AR. PRES: Benign. *THINK: DARK* - Dark connective tis - Brown sclerae - Urine turns black on exposure to air - Arthralgias (homogentisic acid toxic to cartilage)
46
Albinism Def'n, Etiology, Comp?
↓Tyrosine + Melanin. Congenital def of either: - Tyrosinase (no tyrosine -> melanin) - Tyrosine transporters ET (possible) = lack of migration of neural crest cells. COMP =↑risk of skin cancer.
47
Homocystinuria Subtypes (3), Inher, Path, Urine, Pres (7: 2 Neuro, 2 CV, 3 MSK)?
- Homocysteine Methyltransferase / Methionine Synthase def - Cystathionine Synthase def - ↓AFFINITY of Cystathionine Synthase for Pyridoxal P AR. PATH = Excess Homocysteine. URINE = Excess Homocysteine. PRES: - Intellectual disability - Lens subluxation - Atherosclerosis (-> MI, Stroke) - Thrombosis - Tall stature - Kyphosis - Osteoporosis
48
Cystinuria Path, Locations (2), Inher, Urine, DX, RX (3: 2 Meds)?
PATH = Defect of A.A transporters for "COLA": Cysteine, Ornithine, Lysine, Arginine. - Transporter in Renal PCT - Transporter in Intestine AR. *Common* URINE: Hexagonal Cystine stones (due to excess cystine in urine) DX: Urinary Cyanide-Nitroprusside test RX: - Urinary Alkalinization (Acetazolamide, Potassium Citrate) - Chelating agents (↑solubility of cystine stones) - Good hydration
49
Maple Syrup Urine Disease Etiology, Path (3 steps), Urine, Pres?
ET = Vit B1 / a-ketoacid dehydrogenase def PATH: ↓a-ketoacid dehydrogenase -> Blocked degradation of BRANCHED A.A (Isoleucine, Leucine, Valine) -> ↑a-ketoacids in bl (esp Leucine). URINE: "Smells like maple syrup / burnt sugar" PRES: Intellectual disability + severe CNS defects. Death.
50
Hyperchylomicronemia (Type I Familial Dyslipidemia) Mech (2), Inher, Pres (3), Labs (3)?
- Lipoprotein lipase def - Apolipoprotein C-II alteration AR (other familial dyslipidemias = AD). PRES: - Hepatosplenomegaly - Pancreatitis - Eruptive / pruritic xanthomas LABS: ↑in: - Chylomicrons - Cholesterol - Trigylcerides
51
Familial Hypercholesterolemia (Type IIA Familial Dyslipidemia) Mech, Genetics (Hetero vs Homo), Pres (3), Labs (2)?
Absent / defective LDL receptors. GEN: - Hetero: Chol ~ 300 mg/dL - Homo: Chol > 700 mg/dL (very rare) PRES: - Accelerated Atherosclerosis (eg "MI before age 20") - Corneal Arcus - Achilles xanthomas LABS: ↑in: - Cholesterol - LDL
52
Hypertriglyceridemia (Type IV Familial Dyslipidemia) Mech, Pres, Labs (2)?
HEPATIC overproduction of VLDL. PRES: - Pancreatitis LABS: ↑in: - VLDL - Triglycerides
53
Lesch-Nyhan Sx Mech, Pres (Epi + 3)?
HGPRT def. PRES: Boy - Gout - Intellectual disability - Self-mutilating behavior
54
Kwashiorkor (Malnutrition) Def'n, Pres (4)?
PROTEIN malnutrition. PRES: "Small child w swollen belly" - Liver malfunction (↓apolipoprotein syn -> fatty change) - Anemia - Edema - Skin lesions
55
Marasmus (Malnutrition) Def'n, Pres?
ENERGY malnutrition. | PRES: - Tis/muscle wasting + loss of subcutaneous fat - Variable edema

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