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Y2 Endocrine > Genetic Diseases > Flashcards

Genetic Diseases Flashcards

1
Q

what are the two types of multiple endocrine neoplasia?

A

MEN1

MEN2

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2
Q

what three things are the most common features of MEN 1?

A

primary hyperparathyroidism
pancreatic neuroendocrine tumours
pituitary adenomas

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3
Q

how is MEN 1 inherited?

A

autosomal dominant

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4
Q

what gene is affected in MEN 1?

A

MEN1 gene on chromosome 11q13

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5
Q

what type of gene is MEN1?

A

tumour suppressor

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6
Q

how is MEN 1 managed?

A

regular screening and evaluation

treat tumours as they arise

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7
Q

when is MEN 1 screened for?

A

first degree relative with a known mutation

meeting clinical criteria

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8
Q

what is the clinical criteria for MEN 1?

A

two or more associated tumours

familial diagnosis

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9
Q

how is MEN2 inherited?

A

autosomal dominant

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10
Q

what gene is mutated in MEN2?

A

RET gene on 10q

a proto-oncogene

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11
Q

what are the two types of MEN2?

A

MEN2a

MEN2b

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12
Q

which type of MEN2 is more common?

A

MEN2a

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13
Q

what clinical picture is seen in MEN2a?

A

medullary thyroid cancer
pheochromocytoma
parathyroid tumours

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14
Q

what is the usual first manifestation of MEN2?

A

medullary thyroid cancer

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15
Q

what causes von hipple lindau?

A

mutation in the VHL gene

autosomal dominant inheritance

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16
Q

what does VHL mutation cause?

A

accumulation of HIF proteins and stimulation of cellular proliferation = vascular tumours

17
Q

what type of tumours are seen in VHL?

A

vascular

18
Q

what are the clinical features of carney complex?

A

PPNAD
acromegaly
thyroid carcinoma

19
Q

what is PPNAD?

A

primary pigmented nodular adrenocortical disease

20
Q

what does PPNAD cause?

A

adrenals produce excess cortisol = Cushing’s

21
Q

what causes carney complex?

A

mutation in PRKAR1A

22
Q

what causes McCune-Albright syndrome?

A

mutation in GNAS

Y2 Endocrine (33 decks)

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