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Clinical Genetics > Exam 2 ( WD & Hemophilia) > Flashcards

Exam 2 ( WD & Hemophilia) Flashcards

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1
Q

I what type of inheritance pattern does Wilson disease follow

A

Autosomal recessive disorder

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2
Q

A mutation on what Gene results and Wilson’s disease

A

ATP7B

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3
Q

What does the ATP7B Gene code for

A

Hepatic copper transport protein

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4
Q

What chromosome number is the ATP 7B Gene located on

A

13

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5
Q

most ATP7B protein is located

A

in the trans-golgi network of hepatocytes

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6
Q

small amount of ATP7B protein is located where?

A

in the brain (“thats why we see some neurological symptoms associated with these deposits”)

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7
Q

one major function of ATP7B protein is to deliver copper to copper dependent enzymes which are bound by ______ located in the ________.

A

Ceruloplasm (CPN), golgi apparatus

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8
Q

what is the major copper carrying protein in the blood?

A

Ceruloplasm (also plates role in Fe metabolism)

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9
Q

what percentage of copper does ceruloplasm carry in health human plasma?

A

95%

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10
Q

does wilson disease affect men and women differently?

A

no equally because it is autosomal recessive.

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11
Q

Wilson occurs in how many live births?

A

1 in 30,000

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12
Q

what clinical manifestations predominate in wilsons disease?

A

hepatic, neurological, and psychiatric disorders( man patients have a combination

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13
Q

majority of patients with wilsons are diagnosed between what ages?

A

5 and 35 (mean age of 12-23) can be diagnosed younger or as late as 70

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14
Q

what average age do children usually present with liver disease if they have WD?

A

9-13 years old (accounting for 8-10% of chronic active hepatitis is children

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15
Q

Older patients (mid teens and older) are more likely to present with neurologic manifestations with a mean age between

A

15-21 years old

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16
Q

in patients with WD, live disease shows in _______ percent of patients

A

18-84

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17
Q

in patients with WD, neurologic symptoms show in _______ percent of patients

A

18-73

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18
Q

In patients with WD, psychiatric symptoms show in _______ percent of patients

A

10-100

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19
Q

Hepatic disease is aka ________ and why?

A

hepatolinticular , linticular meaning lens of the eye ( copper deposits in the eye?)

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20
Q

in children or young adults that have wilsons disease, __________ is indistinguishable from ____________.

A

acute hepatitis, acute viral hepatitis (with elevated aminotransferase (ALT)

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21
Q

disorganized fibrotic architecture of the liver both anatomically and functionally…

A

Fibrosis (is reversible is disease it treated)

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22
Q

Fibrosis constitutes an important prognosis parameter…why?

A

because it is reversible if the cause of the disease is treated and the lesions are not too severe

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23
Q

accumulation of fat in the liver, making a “fatty liver”

A

Liver Steatosis

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24
Q

what fatty molecule accumulates inside hepatocytes to cause liver steatosis

A

triglycerides

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25
Q

liver steatosis may complicate patients with what metabolic disorders?

A

type 2 diabetes, obesity anf dyslipemia and especially alcoholics

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26
Q

NASH

A

non-alcoholic steatohepatitis

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27
Q

what are Kayser-Fleischer rings and what percentage for patients with hepatic disease show these?

A

Brownish-yellow ring visible around the corner-scleral junction (limbus) and 50%

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28
Q

Some symptoms of WD include:

A

abdominal pain, jaundice, hepatomegaly, splenomegaly, ascites, GI bleeds, mental status changes (hepatic encephalopathy)

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29
Q

what three categories do patients with neurologic WD fall into?

A
  1. dysarthric (speech)
  2. dystonic
  3. tremulous
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30
Q

In patient with WD, will they have high or low levels of serum ceruloplasmin

A

LOW

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31
Q

In patient with WD, will they have high or low levels of aminotransferase (ALT)?

A

HIGH

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32
Q

The laboratory test for WD thrombocytopenia will show what?

A

low platelets ( cirrhosis with splenomegaly)

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33
Q

MRI of a patient with with WD will reveal structural abnormalities in the _______ and _________.

A

liver, brian (basal ganglia)

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34
Q

Lumbar puncture of spine will show that CSF in patents with WD will have elevated 3 to 4 fold concentrations of

A

copper

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35
Q

what 3 drugs are approved for chelation therapy in patients with WD?

A
  1. penicillamine
  2. cuprimine
  3. depen

These drugs act by chelation or binding of copper, causing its increase urinary excretion

36
Q

A primary drug that is a mettalothione induce dog that acts by blocking the absorption of copper in the intestinal tract is …..

A

Galzin

37
Q

TIPS

A

transjugular intrahepatic shunting

38
Q

TIPS is used for treatment of what?

A

portal hypertension

39
Q

People with WD should avoid eating foods high in copper content such as?

A

liver, chocolate, nuts, mushrooms, legumes, and shellfish (lobster) and they should also avoid from drinking water fro atypical sources ( well water)

40
Q

excessive intrauterine copper concentrations may be responsible for the high rate of _______________.

A

spontaneous abortions

41
Q

what pattern of inheritance does hemophilia A & B follow?

A

X-linked recessive ( present in male children of female carriers)

42
Q

a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males

A

X-linked recessive

43
Q

bleeding disorder caused by deficiency of coagulation factor VIII?

A

hemophilia A

44
Q

bleeding disorder caused by deficiency of coagulation factor IX?

A

hemophilia B

45
Q

bleeding disorder caused by deficiency of coagulation factor XI?

A

hemophilia C

46
Q

hemophilia A & B are transmitted in what pattern?

A

X linked recessive

47
Q

approximately how many male children will be affected by a female carries?

A

1/2

48
Q

Father to son transmission can occur in some case? true false

A

false

49
Q

which hemophilia disorder is aka christmas disease?

A

hemophilia B

50
Q

which hemophilia disorder is aka rosenthal disease and is transmitted in an autosomal recessive manner?

A

hemophilia C

51
Q

acquired coagulation factor deficiencies caused by an autoantibody are sometimes referred to as…..

A

acquired hemophilia (ofter factor VIII)

52
Q

hemophilia is characterized as mild moderate or severe based on the residual baseline factor called

A

“factor level”

53
Q

what percentage of factor activity is defined as severe hemophilia ?

A
54
Q

what percentage of factor activity is defined as moderate hemophilia ?

A

1-5% of normal

55
Q

what percentage of factor activity is defined as mild hemophilia ?

A

5-40% of normal

56
Q

which is more common hemophilia A or hemophilia B?

A

A is hemophilia A is more likely to be severe

57
Q

Severe hemophilia is almost exclusively a disease of males. True False

A

True

58
Q

Where does 43 % of the hemophilia population live?

A

India, Bangladesh, Indonesia and China ( but hemophilia occurs in all ethnic groups around the world)

59
Q

extreme degrees of X chromosome inactivation aka

A

lyonization ( causes of lower than expected factor activity)

60
Q

age of diagnosis of severe, moderate and mild hemophilia are….

A

1 month, 8 months, and 36 months respectively

61
Q

mild hemophilia may go undetected. T or F

A

True

62
Q

Common site of bleeding in infants with hemophilia include:

A

CNS, cephalohematoma (extracranial), circumcision, heel sticks and venipunctures

63
Q

children with hemophilia experience bruising and join bleeds more common once they begin walking. true or false

A

True

64
Q

Frenulum and oral injuries are also common sites for bleeding in…..

A

toddlers

65
Q

__________ are relatively rare compared to other sites of bleeding in patients with hemophilia but is the most dangerous

A

intracranial bleeding

66
Q

what is the most common site for bleeding in ambulatory patients

A

hemarthrosis (hemorrhage into a joint)

67
Q

in children with hemophilia, what joint is mostly affected

A

ankles

68
Q

in adolescents and adults with hemophilia, what joints are affected the most…

A

knees, elbow and ankles

69
Q

bleeding in sites such as the nose, oral mucosa and gingiva (oropharyngeal sites) occurs mostly afters what type of procedure?

A

dental

70
Q

what are some things that can makes a hemophilia patient present with hematemesis (vomiting of blood)

A

lesions in GI tract such as esophagitis, gastritis, polyps, diverticulitis, and swallowed blood from EPISTAXIS.

71
Q

Hematuria is a frequent manifestation of severe hemophilia. T or F

A

True

72
Q

What is a type of Obstructive Uropathy that can occur when clots form…

A

Ureteral obstruction

73
Q

hemophilia is characterized as a _________ activated partial thromboplastin time (aPTT)

A

prolonged

74
Q

a aPTT may be ________ in individuals with milder factor deficiencies.

A

normal

75
Q

the platelet count and prothrombin time (PT) are ________ in hemophilia

A

normal

76
Q

measurement of the factor activity level shows _______ levels compared with normal controls

A

reduced

77
Q

the plasma von Willebrand factor antigen (Ag) is ________ in hemophilia

A

normal

78
Q

what has led to a generation of products that have an extremely low risk of viral transmission in hemophilia patients?

A

recombinant factor proteins

79
Q

No documentation of HIV transmission from factor concentrates have been reported since the implementation of improved viral inactivation procedures for plasma. T or F

A

True

80
Q

Conditions that can cause interference with factor activity testing include:

A
  1. Factor VIII is an acute phase reactant
  2. A patient with mild hemophilia and a current illness may present transient levels of factor VIII
  3. Heathy infants have lower levels of factor IX because of synthesis of vitamin K-dependent factors
  4. Vit K dépendant factors II, VII, IX, X
81
Q

the optimal method for infant delivery (vaginal or cesarean) remains a subject of debate, T or F

A

True

82
Q

what is the most common hereditary coagulation abnormality described in humans, although it can also be acquired as a result of other medical conditions

A

von Willebrand disease

83
Q

inheritance pattern for VWD types 1 and type 2

A

autosomal dominant

84
Q

inheritance pattern for VWD type 3

A

autosomal recessive

85
Q

is VWD more common in males or females?

A

equal

86
Q

what syndrome is due to an acquired autoantibody that prolongs aPTT?

A

Antiphospholipid antibody syndrome (APS)

87
Q

ask Nick about acquired factor inhibitors…. are they the same as gene modifiers??

A

autoantibodies that can interfere with normal activity of coagulation factors

Clinical Genetics (4 decks)

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