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Exam 2 ( WD & Hemophilia) Flashcards

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
liver steatosis may complicate patients with what metabolic disorders?
type 2 diabetes, obesity anf dyslipemia and especially alcoholics
26
NASH
non-alcoholic steatohepatitis
27
what are Kayser-Fleischer rings and what percentage for patients with hepatic disease show these?
Brownish-yellow ring visible around the corner-scleral junction (limbus) and 50%
28
Some symptoms of WD include:
abdominal pain, jaundice, hepatomegaly, splenomegaly, ascites, GI bleeds, mental status changes (hepatic encephalopathy)
29
what three categories do patients with neurologic WD fall into?
1. dysarthric (speech) 2. dystonic 3. tremulous
30
In patient with WD, will they have high or low levels of serum ceruloplasmin
LOW
31
In patient with WD, will they have high or low levels of aminotransferase (ALT)?
HIGH
32
The laboratory test for WD thrombocytopenia will show what?
low platelets ( cirrhosis with splenomegaly)
33
MRI of a patient with with WD will reveal structural abnormalities in the _______ and _________.
liver, brian (basal ganglia)
34
Lumbar puncture of spine will show that CSF in patents with WD will have elevated 3 to 4 fold concentrations of
copper
35
what 3 drugs are approved for chelation therapy in patients with WD?
1. penicillamine 2. cuprimine 3. depen These drugs act by chelation or binding of copper, causing its increase urinary excretion
36
A primary drug that is a mettalothione induce dog that acts by blocking the absorption of copper in the intestinal tract is .....
Galzin
37
TIPS
transjugular intrahepatic shunting
38
TIPS is used for treatment of what?
portal hypertension
39
People with WD should avoid eating foods high in copper content such as?
liver, chocolate, nuts, mushrooms, legumes, and shellfish (lobster) and they should also avoid from drinking water fro atypical sources ( well water)
40
excessive intrauterine copper concentrations may be responsible for the high rate of _______________.
spontaneous abortions
41
what pattern of inheritance does hemophilia A & B follow?
X-linked recessive ( present in male children of female carriers)
42
a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males
X-linked recessive
43
bleeding disorder caused by deficiency of coagulation factor VIII?
hemophilia A
44
bleeding disorder caused by deficiency of coagulation factor IX?
hemophilia B
45
bleeding disorder caused by deficiency of coagulation factor XI?
hemophilia C
46
hemophilia A & B are transmitted in what pattern?
X linked recessive
47
approximately how many male children will be affected by a female carries?
1/2
48
Father to son transmission can occur in some case? true false
false
49
which hemophilia disorder is aka christmas disease?
hemophilia B
50
which hemophilia disorder is aka rosenthal disease and is transmitted in an autosomal recessive manner?
hemophilia C
51
acquired coagulation factor deficiencies caused by an autoantibody are sometimes referred to as.....
acquired hemophilia (ofter factor VIII)
52
hemophilia is characterized as mild moderate or severe based on the residual baseline factor called
"factor level"
53
what percentage of factor activity is defined as severe hemophilia ?
54
what percentage of factor activity is defined as moderate hemophilia ?
1-5% of normal
55
what percentage of factor activity is defined as mild hemophilia ?
5-40% of normal
56
which is more common hemophilia A or hemophilia B?
A is hemophilia A is more likely to be severe
57
Severe hemophilia is almost exclusively a disease of males. True False
True
58
Where does 43 % of the hemophilia population live?
India, Bangladesh, Indonesia and China ( but hemophilia occurs in all ethnic groups around the world)
59
extreme degrees of X chromosome inactivation aka
lyonization ( causes of lower than expected factor activity)
60
age of diagnosis of severe, moderate and mild hemophilia are....
1 month, 8 months, and 36 months respectively
61
mild hemophilia may go undetected. T or F
True
62
Common site of bleeding in infants with hemophilia include:
CNS, cephalohematoma (extracranial), circumcision, heel sticks and venipunctures
63
children with hemophilia experience bruising and join bleeds more common once they begin walking. true or false
True
64
Frenulum and oral injuries are also common sites for bleeding in.....
toddlers
65
__________ are relatively rare compared to other sites of bleeding in patients with hemophilia but is the most dangerous
intracranial bleeding
66
what is the most common site for bleeding in ambulatory patients
hemarthrosis (hemorrhage into a joint)
67
in children with hemophilia, what joint is mostly affected
ankles
68
in adolescents and adults with hemophilia, what joints are affected the most...
knees, elbow and ankles
69
bleeding in sites such as the nose, oral mucosa and gingiva (oropharyngeal sites) occurs mostly afters what type of procedure?
dental
70
what are some things that can makes a hemophilia patient present with hematemesis (vomiting of blood)
lesions in GI tract such as esophagitis, gastritis, polyps, diverticulitis, and swallowed blood from EPISTAXIS.
71
Hematuria is a frequent manifestation of severe hemophilia. T or F
True
72
What is a type of Obstructive Uropathy that can occur when clots form...
Ureteral obstruction
73
hemophilia is characterized as a _________ activated partial thromboplastin time (aPTT)
prolonged
74
a aPTT may be ________ in individuals with milder factor deficiencies.
normal
75
the platelet count and prothrombin time (PT) are ________ in hemophilia
normal
76
measurement of the factor activity level shows _______ levels compared with normal controls
reduced
77
the plasma von Willebrand factor antigen (Ag) is ________ in hemophilia
normal
78
what has led to a generation of products that have an extremely low risk of viral transmission in hemophilia patients?
recombinant factor proteins
79
No documentation of HIV transmission from factor concentrates have been reported since the implementation of improved viral inactivation procedures for plasma. T or F
True
80
Conditions that can cause interference with factor activity testing include:
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
the optimal method for infant delivery (vaginal or cesarean) remains a subject of debate, T or F
True
82
what is the most common hereditary coagulation abnormality described in humans, although it can also be acquired as a result of other medical conditions
von Willebrand disease
83
inheritance pattern for VWD types 1 and type 2
autosomal dominant
84
inheritance pattern for VWD type 3
autosomal recessive
85
is VWD more common in males or females?
equal
86
what syndrome is due to an acquired autoantibody that prolongs aPTT?
Antiphospholipid antibody syndrome (APS)
87
ask Nick about acquired factor inhibitors.... are they the same as gene modifiers??
autoantibodies that can interfere with normal activity of coagulation factors

Clinical Genetics (4 decks)

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