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U9 Path > Genetic and Developmental disorders > Flashcards

Genetic and Developmental disorders Flashcards

1
Q

Development of multiple neurofibromas and pigmented skin lesions

A

Neurofibromatosis type 1

–NF-1 tumor suppressor–autosomal dominant pattern of inheritance

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2
Q

Factor VIII deficiency with prolonged PTT

X-linked recessive condition

A

Hemophilia A

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3
Q

Defects in Fibrillin from missense mutations in the Fibrillin gene

  • -loss of vision/subluxation of lens
  • -systolic click
  • -mitral valve floppy
  • -dilated aortic arch
A

Marfan syndrome

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4
Q

Group of inherited disorders that mostly affect skin, joints, and blood vessels

decrease in tensile strength with a deficiency of enzyme lysyl hydroxylase–defect in type 1 and 3 collagen

A

Ehlers-Danlos

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5
Q

Ion channel mutation

A

Cystic fibrosis–mutations in CFTR gene encoding Cl- ion channels

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6
Q

Receptor mutations

A

Familial hypercholesterolemia–abnormal LDL receptor

Autosomal dominant

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7
Q

Cherry red spot in the retina–mutations in the gene that encodes for hexosaminidase A

Motor incoordination
severe MR
death

A

Tay-Sachs Dz

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8
Q

Neuro involvement–motor and mental impairment
Hepatosplenomegaly
accumulation of FOAMY macrophages

sphingomyelinase deficiency

A

Niemann-Pick dz

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9
Q

Hepatomegaly
Renomegaly
impaired gluconeogen–hypoglycemia and hyperlipidemia

G6Pase deficiency

A

Von Gierke Dz

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10
Q

bruising, fatigue, anemia, low blood platelets, and enlargement of the liver and spleen

deficiency of glucocerebrosidase

A

Gaucher Dz type 1 doesn’t involve CNS

Type 2 & 3 involve CNS

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11
Q

Mucopolysaccharidose (MPS) seen in urine and macrophages(balloon cells)
Deficiency of a-1-iduronidase

Coarse facial features
Corneal clouding
Joint Stiffness
Hepatosplenomegaly
MI--subendothelial coronary arterial deposits
A

Hunter syndrome—X-linked recessive or Hurler syndrome

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12
Q

Glucosidase deficiency–a-1,4-glucosidase

Cardiomegaly/heart failure in infancy—glycogen stored in myocardium

A

Pompe Dz

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13
Q

Glycogen storage Dz
Deficiency of muscle phosphorylase–muscle cramping

Brown urine seen in 50% of cases

A

McArdle Dz

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14
Q

Mutation to RBC membrane cytoskeletal protein

A

Abnormal spectrin– Hereditary spherocytosis

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15
Q

Alkaptonuria with deposition of a blue-black pigment in joints –ochronosis

A

Homogentisic acid oxidase deficiency

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16
Q

250-4000 tandem repeats of the trinucleotide sequence CGG- subsequent male offspring have more severe dz compared to earlier generations

A

Fragile X syndrome

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17
Q

Males and females affected from dz–BUT males cannot transmit the dz to offspring

CNS and muscle involvement–cells dependent on ox/phos

A

Mitochondrial mutation

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18
Q

Deformation that results from destruction of irreplaceable normal fetal tissue–rupture of the amnion with formation of fibrous bands that encircles parts of the fetus

A

Amniotic bands–early amnion disruption

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19
Q

problems occurring from 9th week-term

A

Deformations

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20
Q

Problems occurring from 3-9wks

A

Malformations

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21
Q

Caused from renal a genesis/cystic Dz of the kidneys

Flat facial features (potter facies)
compression of skull vault
Dysplastic/displaced ears
Underdeveloped chest wall
club feet (talipes equinovarus)
A

Oligohydramnios

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22
Q

Cardiac/neural/craniofacial defects

Down regulation of TGF-B signaling pathway and affect the expression of HOX genes (important for patterning of limbs/vetebrae/craniofacial structures

A

Retinoic acid embryopathy

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23
Q

Fetal growth restriction–sparring of fetal brain

decrease size of placenta with oligo

A

Uteroplacental insufficiency

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24
Q

Spirochetes crossing placenta during the 3rd trimester

A

Congenital syphilis

25
Q 
Occurs during first trimester-can lead to abnormalities:
cardiac--defects
ocular
skin
cns
hepatic
A

Congenital Rubella infection

26
Q

Hyperplasia of the fetal islets–after birth islets over function and cause hypoglycemia

A

Maternal DM

27
Q

common cause of congenital infection a term/peripartum

A

Group B streptococcus

28
Q

Preterm premature rupture of membranes due to infection

infection in genital tract–causing release of collagenases and elastases–promoting rupture of membranes and release of prostaglandins that induce smooth muscle contraction and labor

A

Chorioamnionitis and funisitis–necrosis of the umbilical cord

29
Q

Most likely to produce severe CNS damage

A

Cytomegalovirus and toxoplasmosis

30
Q

Acquired via passage through birth canal

A

Herpetic congenital infections

31
Q

May cause a severe fetal anemia

A

Parvo virus

32
Q

Severe anemia and myocardial injury cause hydrops

  • brain often involved– enlarged ventricles/encephalitis/necrosis
  • renal tubular epithelium can be infected
  • acquired–transplacentally/@birth/breast milk
A

Cytomegalovirus

33
Q

CNS findings–microcephaly/periventricular leukomalacia/calcifications
Blind/deaf
Through injection of poorly cooked contaminated food or changing cat litter

A

Toxoplasmosis

34
Q

IUGR with asymmetric growth–head normal later in gestation

A

Pregnancy induced HTN

35
Q

Infant small for gestational age
usually no other problems noted
increased risk for preterm premature rupture of membranes

A

Cigarette smoking during pregnancy

36
Q

Sustained, high does O2 therapy delivered with + pressure ventilation–to new born

A

Bronchopulmonary dysplasia

37
Q

Lack of sufficient surfactant to enable adequate ventilation after birth

A

Hyaline membrane dz

38
Q

complication of prematurity related to many factors:

  • intestinal ischemia
  • enterocyte apoptosis
  • bacterial overgrowth
  • formula feeding
A

Necrotizing enterocolitis

39
Q

Congenital condition resulting from an a ganglionic segment of distal colon—obstruction with distention
—NO bloody diarrhea

A

Hirschsprung Dz

40
Q

Typically incidental finding later in life associated with GI bleeding and ectopic gastric mucosa

A

Meckel Diverticulum

41
Q

Seen in setting of cystic fibrosis–can lead to obstruction in GI

A

Meconium ileus

42
Q

Maternal antibody coats fetal RBCs causing hemolysis

  • -+ coombs test
  • -fetal anemia–CHF and hydrops
  • -increased bilirubin level
A

Erythroblastosis fetalis

43
Q

Result of vascular anastomosis btwn halves of a monochorionic placenta

  • -Donor twin–smaller/decreased organ function/oligo
  • -recipient twin– plethoric/hydrops/poly
A

Twin-Twin transfusion syndrome

44
Q

ABO incompatibility–IgG isohemaglutienus cross the placenta and bind to fetal cells

  • -mother blood type O
  • -Baby blood type A
  • -+ Coombs test
A

Immune Hydrops Fetalis

45
Q

Large, pink, intranuclear inclusions in bone marrow biopsy

Can lead to in fetus:

  • profound fetal anemia
  • cardiac failure
  • hydrops fetalis
A

Paravovirus infection

46
Q

Caused by absence of functional phenylalanine hydroxyls genes

Gives rise to hyperphenylalaninemia–impairs brain development and can lead to seizures

  • decreased pigmentation of skin and hair
  • “mousy” odor urine—phenylacetic acid
A

Phenylketonuria (PKU)

47
Q

Caused by Galactose-1-phosphate uridyltransferase deficiency–in born error of metabolism–autosomal pattern of inheritance

severe liver Dz and cataracts

A

Galactosemia

48
Q

Lysosomal acid maltase deficiency–cardiomegaly and heart failure

A

Pompe Dz

49
Q
  • Steatorrhea
  • autosomal recessive
  • 3-base pair deletion
  • respiratory infections–pseudomodas aeruginosa/burkholderia cepacia
  • formation of respiratory epithelial biofilms
  • sweat chloride
  • polymorphisms of MBL2 and TGFB1 genes
A

Cystic fibrosis

50
Q

No significant gross/microscopic autopsy findings

Abnormalities of serotonergic neural pathways in the medulla and respiratory tract stressor (sleeping prone)

A

Sudden infant death syndrome (SIDS)

51
Q

A birthmark often appearing as a rubbery, bright red nodule of extra blood vessels
Most common tumor of infancy

A

Hemangioma

52
Q

Likely congenital/early childhood neoplasm

A

Tumor with the suffix blastoma

53
Q

Benign neoplasms composed of tissues derived from embryonic germ layers–midline location

A

Teratomas

54
Q

Loss of tumor suppression and development of Retinoblastoma–germline mutation

A

Inherited abnormal RB1 gene

55
Q

Occurs in 25% of neuroblastomas

Greater the # of copes–worse the prognosis

A

MYCN oncogene amplification

56
Q

Increased risk of development of Wilms tumor–childhood neoplasm arising in the kidney–deletion of the short arm of chromosome 11

A

WAGR syndrome

57
Q

GU defects a the first hit

A

WT1 loss

58
Q

Aniridia and CNS maldevelopment with MR

A

PAX6 loss

59
Q

can be found in the renal parenchyma adjacent to a wilma tumor and is precursor

A

Nephrogenic rests

U9 Path (6 decks)

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