DIT ReproGenetic disorders Flashcards
Autosomal dominant kidney disease involves what organs and is what chromosome?
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.
Achondroplasia has what defect?
AD FGF receptor 3 so bones won’t grow
Advanced paternal age. Autosomal dominant occurring sporadically.
FAP is on what chromosome?
AD Polyp is 5 letters
APC gene
Need cholectomy.
What is gardner syndrome?
AD APC mutation causes polyps in colon and tumors outside colon:
Osteomas, lipomas, sebaceous cysts, colon polyps, colonc ancer
Familail hypercholesterolemia is a problem with what? What is causing the problem?
AD LDL receptor issue.
Have tendon xanthomas
Will have an MI
What is hereditary hemorrhagic telangiectasia?
AD Osler Weber Rendu
Abnormal blodo vessel formation
AVMs causing bleeding all over and telangectiasia
Hereditary spherocytosis? Tx?
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
Huntington is?
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
Marfans issue?
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
MEN1 and MEN2?
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)
Neurofibromatosis Type 1?
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
Neurofibromatosis type 2?
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
Tuberous sclerosis?
AD
NEurocutaneous disorder with angiomas and hamartomas. Incomplete penetrance and variable expression (seizure lecture), ash leaf spots
rhabdomyomas and astrocytomas
Von hippel lindau disease?
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)
What are the tinucleotide repeat diseases?
X-Girlfriend First Aid Helped Ace My Test
fragile X is cGg
Friedrich ataxia gAa
Huntington cAg
Myotonic dystrophy cTg
Cystic fibrosis? What type of gate is it.
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)
Cystic fibrosis tx?
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
Fabry genetics and enzyme?
X linked
alpha galactosidase
accumulation of ceramide trihexosidase
pain, neuropathy, CV/renal disease, HTN (renal failure), angiokeratomas in buttocks/groin
Goucher disease?
AR
Most common
Glucocerbrosidase deficiency: glucocerebroside
Hepatosplenomegaly, thrombocytoplenia
Gacuher cells: lipid laden macrophage looking like tissue paper.
TX: recomb glucocerebrosidase
Nieman Pick?
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)
Tay sachs?
AR
Hexosamindase A GM2 ganglioside
Worsening mental and physical abilities early in life dead by 4
CHERRY RED spot BUT NO hepatosplenomegaly
How do you tell taysachs vs nieman picks?
both have cherry red spot and neurodegeneration
BUT nieman pick has hepatosplenomegaly and foam cells, taysachs doesnt
Krabbe disease?
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
Metachromatic leukodystrophy?
Central and peripheral demyelination with ataxia, dementia, vision loss
Similar to Krabbe b/c demylination
Arylsulfatase A and cerbroside sulfate build up
Hurler syndrome:
Autosomal recessive
developmental delay, gargoylism (course facial features), airway issue, corneal clouding (BIG DEAL) and hepastoplenomegaly
Alpha L iduronidase: haparan and dermatan sulfate
Hunter syndrome?
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)
X linked mnemonic?
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
