Syndromes Flashcards

1
Q

What is Conn’s syndrome?

A

Excess production of aldosterone (primary hyperaldosteronism)

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2
Q

Conn’s syndrome is a potentially curable curable cause of secondary?

A

Hypertension

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3
Q

What is Cushing’s syndrome?

A

Collection of signs and symptoms due to prolonged exposure to cortisol

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4
Q

What are the features of cushing’s syndrome?

A
Hypertension
Abdominal obesity 
reddish stretch marks
Round red face
Fat lump between shoulders
Weak muscles
Weak bones
Acne
Fragile skin (heals poorly)
Women may have more hair and irregular menstruation
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5
Q

Cushing’s syndrome is caused by?

A

Tumour or steroid treatment

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6
Q

Cushing’s Disease is caused by?

A

Pituitary adenoma

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7
Q

What is Marfan’s Syndrome?

A

Genetic disorder of connective tissue

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8
Q

What are the features of Marfan’s syndrome?

A

Tend to be tall, thin, long arms, finger and toes
Flexible joints and scoliosis
(may indulge in marihuana - hint hint)

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9
Q

What is carcinoid heart disease?

A

Carcinoid tumours

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10
Q

Carcinoid tumours are neoplasia of?

A

Neuroendocrine cells (release hormones)

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11
Q

Carcinoid tumours are seen in _____ common GI tract and lungs

A

mucosa

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12
Q

What is carcinoid syndrome?

A
Mets to the liver
Release of THIAA, serotonin, histamine, bradykinin
Flushing of the skin
Nausea, vomiting, diarrhoea
Right-sided valve disease 
Tricuspid and pulmonary insufficiency
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13
Q

What is sinus sick syndrome?

A

Sinus node dysfunction causing bradycardia, sion-atrial block or SVT with alternating bradycardia/asystole

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14
Q

How do you treat sinus sick syndrome?

A

Pace if asymptomatic

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15
Q

What is amyloidosis?

A

Abnormal deposition of any protein

Tendency to form beta-pleated sheets?

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16
Q

Amyloidosis AA is related to chronic disease like?

A

Rheumatoid

17
Q

Amyloidosis AL form ___ chains causing?

A

light

abnormal immunoglobulin

18
Q

Haemodialysis associated Amyloidosis causes formation of?

A

Beta-1-microglobulin

19
Q

What are the different forms of Amyloidosis?

A
AA
AL 
Haemodialysis associated
Familial forms
Diabetes
Alzheimer's 
Senile cardiac amyloidosis
20
Q

Senile cardiac amyloidosis affects? which carries ?

A

Transthyretin

Thyroid hormone

21
Q

Waxy pink material, stains +ve for “congo red” showing apple green birefringence is a positive test for?

A

Senile cardiac amyloidosis

22
Q

What is Carney’s syndrome?

A

Multiple myxomas

23
Q

What are features of Carney’s syndrome?

A

Spotty skin pigmentation and lentigines mainly in the face
Neurofibromas, sertoli cell tumours of the testicle
Occasionally pancreatic and thyroid tumours

24
Q

Carney’s syndrome is an autosomal _____ condition caused by which gene?

A

dominant

PRKAR1A gene