DIT ReproGenetic disorders

Question 1

Autosomal dominant kidney disease involves what organs and is what chromosome?

Answer 1

AD 16 letters in polycystic kidney.

Kidneys, liver, pancreas, brain, attires involved

Always bilateral
Dx: HTN, flank pain, hematuria and CT/US for Dx

APKD1 on chromosome 16.

Question 2

Achondroplasia has what defect?

Answer 2

AD FGF receptor 3 so bones won’t grow

Advanced paternal age. Autosomal dominant occurring sporadically.

Question 3

FAP is on what chromosome?

Answer 3

AD Polyp is 5 letters

APC gene
Need cholectomy.

Question 4

What is gardner syndrome?

Answer 4

AD APC mutation causes polyps in colon and tumors outside colon:

Osteomas, lipomas, sebaceous cysts, colon polyps, colonc ancer

Question 5

Familail hypercholesterolemia is a problem with what? What is causing the problem?

Answer 5

AD LDL receptor issue.

Have tendon xanthomas

Will have an MI

Question 6

What is hereditary hemorrhagic telangiectasia?

Answer 6

AD Osler Weber Rendu
Abnormal blodo vessel formation

AVMs causing bleeding all over and telangectiasia

Question 7

Hereditary spherocytosis? Tx?

Answer 7

AD Autosomal dominant

Ankyrin or spectrin issue
Hemolytic anemia risk
Worsens with viral infections
MCHC: mean cell hemoglobin concentration: This is elevated, meaning red cell dehydration and membrane loss

Abnormal osomotic fragility test, spherocytes, hemolytic anemia

Splenectomy

Question 8

Huntington is?

Answer 8

AD depression, chloroform issues, low GABA and ACh in brain

C’s of huntington

Cognitive decline
Caudate atrophy
Chorea
CAG repeat (polyQ)
Chromosome Cuatro (Hunting 4 food)
Cuarenta (age 40 presentation)
Low aCetylCholine

Question 9

Marfans issue?

Answer 9

AD fibrillin issue

All sorts of shit you know and CYSTIC medial necrosis of aorta: regurge, aneurysm, dissection
Floppy mitral valve
Sublex upward and temporalky

Question 10

MEN1 and MEN2?

Answer 10

AD

MEN1 is Menin gene
MEN2a and b is ret gene (turn on)

MEN1 3 p’s: pituitary adenoma, parathyroid, pancreatic (diamond)

MEN2a: MPP Medulalry thyroid, parathyroid, pheochromocytoma (square)

MEN2B is MMP: medullary thyroid, mucosal tumors, pheochromocytoma (triangle)

Question 11

Neurofibromatosis Type 1?

Answer 11

AD

Mutation on chromosome 17 (17 letters in von recklinghausen)

NF1 gene: cell division control, if not good, ou get tumors of immune system and neural tumors and CAFE AU LAIT, scoliosis is possible

Question 12

Neurofibromatosis type 2?

Answer 12

AD
hearing loss, bilateral tinnitus, bilateral cataracts, cerebellar testing issues, hyperpigentd skin lesions

Neurofibromatosis type 2 (bilateral schwannomas in nerve 8)

Mutation chromosome 22: 2’s

Question 13

Tuberous sclerosis?

Answer 13

AD
NEurocutaneous disorder with angiomas and hamartomas. Incomplete penetrance and variable expression (seizure lecture), ash leaf spots

rhabdomyomas and astrocytomas

Question 14

Von hippel lindau disease?

Answer 14

AD chromosome 3 (three words) tumor suppressor VHL deleted and antigrowth facts are activated and so you get hemangioblastomas.

Hemangioblastomas (retina, cerebellum, medulla)
Renal cell carcinomas
Pheochromocytomas)

Question 15

What are the tinucleotide repeat diseases?

Answer 15

X-Girlfriend First Aid Helped Ace My Test

fragile X is cGg
Friedrich ataxia gAa
Huntington cAg
Myotonic dystrophy cTg

Question 16

Cystic fibrosis? What type of gate is it.

Answer 16

Autosomal recessive
CFTR in chromosome 7

puts chloride into ducts and lumen so sodium won’t go out to balance charge, then water leave

CFTR actively secretes it! (or reabsorbs chloride from sweat)

Recurrent pulm ifeciton (pseudomonas)
Pancreatic insufficiency
Bronchiectasis
MECONIUM ILEUS IN newborns (not passing first stool)

Question 17

Cystic fibrosis tx?

Answer 17

AR

active transporter of CFTR on chromosome 7 is out

N-acetylcysteane is used for breaking up mucus
Antibiotics for antibiotics (FLUOROQUINOLONES OK b/c pseudomonas is bad!)

Pancreatic enzymes important

ADEK replacement

Question 18

Fabry genetics and enzyme?

Answer 18

X linked
alpha galactosidase
accumulation of ceramide trihexosidase

pain, neuropathy, CV/renal disease, HTN (renal failure), angiokeratomas in buttocks/groin

Question 19

Goucher disease?

Answer 19

AR

Most common
Glucocerbrosidase deficiency: glucocerebroside

Hepatosplenomegaly, thrombocytoplenia

Gacuher cells: lipid laden macrophage looking like tissue paper.

TX: recomb glucocerebrosidase

Question 20

Nieman Pick?

Answer 20

Autosome recessive

Sphingomyelinase (NoMan picks his nose with his springier)

Hepatosplenamegaly
Cherry red spot, foam cells (fatty shingomyelin)
CHERRY RED spot but hepatosplenomegaly!!! (different than tay sachs)

Question 21

Tay sachs?

Answer 21

AR

Hexosamindase A GM2 ganglioside

Worsening mental and physical abilities early in life dead by 4

CHERRY RED spot BUT NO hepatosplenomegaly

Question 22

How do you tell taysachs vs nieman picks?

Answer 22

both have cherry red spot and neurodegeneration

BUT nieman pick has hepatosplenomegaly and foam cells, taysachs doesnt

Question 23

Krabbe disease?

Answer 23

AR
Hurts myelin sheath so periferal neuropathy, sizure, weakness, devo delay. Death before 2,

Optic atroph

Zoidberg from futurama was a Krabbe and it is galactic:
Galactcerebrosidase

Question 24

Metachromatic leukodystrophy?

Answer 24

Central and peripheral demyelination with ataxia, dementia, vision loss

Similar to Krabbe b/c demylination

Arylsulfatase A and cerbroside sulfate build up

Question 25

Hurler syndrome:

Answer 25

Autosomal recessive

developmental delay, gargoylism (course facial features), airway issue, corneal clouding (BIG DEAL) and hepastoplenomegaly

Alpha L iduronidase: haparan and dermatan sulfate

Question 26

Hunter syndrome?

Answer 26

X linked! (X marks the spot!)

Like hurler syndrome Iduronate Sulfatse causes heparin and dermatan sulfate build up

Just like hurdler except AGGRESSIVE behavior (they are hunters) and No corneal clouding (hunters need to see the X)

Question 27

X linked mnemonic?

Answer 27

Oblivious Female Will Give Her Boys Her x-Linked Disorders

Ocular albinism
Fabry
Wiskott aldrich
G6 PD
Hunter
Bruton agammaglobinemia
Hemophila A/B
Lesch Nyhan
Duchenne