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Flashcards in Disease and Genetics Deck (34)
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Your attending tells you to prescirbe N-acetlysteine to the young man on the in-patient floor who has pneumonia. Why would he do that? What is the disease and the genetics in this?

pt has Cystic fibrosis: NAT is given to loose mucous plugs by cleaving S-S bonds (also give dornase alfa)

CFTR gene mutation on chromosome 7 and is Autosomal Recessive


Gene defect in the disease with polyps all over the colon

Familial Adenomatous polyposis, Auto Dominant, muation on chrom 5 APC gene

"5 letters in 'polyp'"


Baby with gap btwn 1 and 2 toes, duodenal atresia, Hirpshrung and endocardial cushion defect. See Brushfield spots in eyes and notice prominent epicanthal folds



How can we screen for this?

Trisomy 21; Downs

95% from meitotic nondsjnx, 4% from Roberstnian translocation and 1% mosaicism

See Low serum PAPP-A and elevated B-hCG in 1st trimester

Low alpha fetaprotein, high B-hCG, low estriol, increase inhibin A in 2nd trimester


What is the defect seen in Hereditary spherocytosis, how do we tx it?

Auto Dom spectrin or ankyrin defect leading to spheroid eythrocytes and hemolytic anemia--> increase in MCHC and tx with splenectomy


Neurocutaenous disorder with lots of different organs involved, see LOTS of hamartomas and ash leaf spots: key findings are angiofibromas, cardiac rhabdomyomas and seizures

Disease and inheritance

Tuberous sclerosis

AutoDominant with incomplete penetrance and variable expression which is why people present differently 


Neurocutaneous disorder: see cafe-au-lait spots, cutaneous neurofibromas.

What is this, what's the inheritance, what's the gene defect?

Neurofibromatosis type I or Von Recklinhausen

mutation is on NF1 gene on Chomosome 17; AutoDominant 

(Von Recklinhausen and Neurofibromatosis type I both ahve 17 letters)


Baby comes in, smells like old socks and missing all development milestones. Dx and inheritance

Phenlyketouria: Auto Recessive

low phenylalanine hydroxylase or low Tetrahydrobiopterin cofactor

tx with low phenylalaine in diet and increase tyrosine in diet as it becomes essential


Inheritance pattern and signs of Huntingtons

Auto Dom with anticipation; CAG repeat on chrom 4

see depression, dementia, choreiform mvmt, caudata atrophy and low levels of GABA and ACh in brain


Inheritance, signs and symptos of Marfans syndrome

Marfans = AutoDomiant; fibrillin-1 mutation thus CT disorder of skeleton, heart, eyes

(floppy mitral vavle and sublux of lens upward)


BAby with severe ID, rocker bottom feet and microphthalmia, microcephaly, with celf lip/palate and polydactyly


Patua: trisomy 13  from meitotic nondisjunx

see low B-hCG, low PAPP-A adn increased nuchal translucency


Alway bilateral, massive enlargement of kidneys d/t mutlpe cyts. What is the mutation?

Auto Domin PKD: mutation in PKD1 on chrom 16 or PKD2 on Chrom 4



You are rotating through peds and you are performing a check up. you didn't have time to look through the pts file and are looking at the baby. It looks like image below, but you keep your cool and do the exam. You note corneal clouding and hepatosplenomegaly

Dx, genetics and inheritance

Hurler syndrome; mucopolysaccharidoses

Autosomal Recessive

Deficient in Alhpa-L-Iduronidase leading to build up of Heparan sulfate and dermatan sulfate


Disease the presents with familial tumors of endocrine clangs; pancreas, parathyroid, pituitary, thryoid, adrenal medulla

What is the inheritance pattern and mutated gene?


both are Auto.Dominant and are d/t ret gene mutation


What disease have trinucleotide repeats?

Huntingtons: CAG

Fragile X: CGC

Friedrich ataxia: GAA

Myotonic Dystrophy: CTG


Common to see cavernous hemangiomas in the skin, mucosa and organs all over. Common to have bilaeral RCC and hemagioblastomas = very vascular tumors with hyperchormatic nuclei; in the retina, brain stem, cerebellum and pheochormocytomas. 

What is this

What is inheritance

What is the gene mutation

Von Hippel Lindau diseae

Autosomal Dominant

mutated VHL tumor suppresor gene on chrom 3 = HIF gene is always on and activating angiogenic GFs


Pt comes in with giant nuts, he's a bit slow and has a big jaw and big ol' ears. 

What is the DX? genetics? associated heart findings?

Fragile X syndrome, X-linked defect on FMR1 gene affecting mehtylation

 see CGG repeats and mitrl valve prolapse


25 yo AA comes to the clinic with severe pain in her left hip when she is sitting or lying down. You notice a necrosis in the femoral head and a crew cut apprearance of the skull (you decide she needed a full body Xray bc you're stupid) She is on hydroxyurea. What is the pts disease, inheritance and defect

Sickel Cell : put these guys on hyroxyurea to increase HbF

Has autosomal Recessive disease; point mutaiton on HbS of the B chain (glu--> val) on position 6



Lady comes in and has severe cramping in her lower left abdomen. You are running tests and notice her BhCG levels are high. You are doing your physical and are listening for heart sounds but there is NOTHING going on onthe left side. Dx? Genetics?

Bitch has Kartageners: in women see ectopic preggers and still situs inversus

this is dyenin arm defect

Autosomal Recessive


Pt has issues hearing from both ears and had cataracts as a child. What do you expect to see in the brain?

What is the disease?

What's the mode of inheritance and genetics involved?


Pt has Neurofibromatosis type 2: see juvinile cataracts and bilateral acoustic schwannomas: see meningima and epnedymoma associated

this is on Chrom 22 

(disease of 2s; 2 ears, 2 eyes, 2 brain tumors, chrom 22 and NF2)


Inheritance pattern of all the sphingolipidosis except Fabry disease



Pt comes in that is severely jaundiced and confused. They are having issues talking and swallowing and signs of basal ganglia degeneration. Labs show hemolytic anemia. What is wrong with this pt? Genetics? What are really common symptoms of this disease?


Cu accumulation in liver: cirrhosis and basal ganglia degernation as well as deposits in other spots in brain; low Ceroloplasmin and low hepatic Cu excreation

Bzzz: Kayser Fleischer ring, Asterixis

Autosomal recessive disease; ATP7B gene on chrom 13


Pt comes in to his primary care doc and you are rotating through during your 3rd year. The doc orders labs to check pts blood as he has Cirrhosis and Diabete Mellitus. He's fit and doesn't drink or have hisotry of Hep C. You notice the pt is very tan and it's the middle of winter, you inquire about his recent travels. He replies he's been in fucking wisconsin all winter. 

Dx, inheritance and tx?

Hemochromatosis: deposition of iron see: cirrhosis, DM, bronxzed skin. 

Can be Autosomal recessive or d/t transfusions

Genetics: H63D on the HFE gene; associated with HLA-A3


Auto Dom disease presents with telangiectasia, recurrent nose bleeds, skin discolorations, AV malformations, GI bleeds and Hematuria. 

Hereditary Hemorrhagic telangiectasia also known as Osler-Weber-Rendu formaiton


Pneumonic for X linked recessive disorders

Oblivious Females Will Give Her Boys X-Linked Disorders

Ocularalbinism, Fabry, Wiskott Aldrich, G6PD deficiency, Hemophelia, Brutons, Lesch Nyan, Duchenne


Child comes in with mom and he is playing on the floor. As he stands up, he uses his hands to push up along his legs. His cute little calf muscles looks like he runs all the time. What is dx? genetics? common cause of death?

Duchennes musclar dystrophy: X-linked frameshift: deleted dystrophin from gene DMD

no dystrophin cant anchor muscle fiberts in skeletal and heart muscle

See increase CPK and aldolase but dx with Western Blot and msl biopsy

often die from dialated cardiomyopathy


Less severe form of Duchennes seen in adolescence or late adult hood

Dx, Genetics

Becker; see X-linked Point mutaiton


Rockerbottom feet, ID, MIcrognathia, low set ears, clenched hands and prominent occiput

Dx, genetics and how can we screen for this

Edwards or Trisomy 18

see LOW PAPP-A and LOW B-hCG 1st

Low alpha-fetoprotein, Low B-hCG, low estriol and low or normal inhibin A in 2nd


Elfin facies, ID, hyperCalcemia, with well devo verbal skills and friendliness but lots of anxiety and CV problems


microdeletion of long arm of chrom 7


A child with CF comes to clinic weak and confused after playing soccer and then suddenly collapsing. PE is significant for Hypotension: 60/30 and HR is 130 bpm. Oral mucosa is dry. What caused his excess Na loss with sweating?

mutated CFTR channel: regulates Cl-, Na+ adn water across airways, biliary tree, inetstines, vas defererns, sweat ducts and pancreatic ducts. 

When sweat is made in eccrine glands = isotonic then as it goes through eccrine glands; Cl is resorbed via CFTR and Na+ follows. 

No CFTR = high Na, high Cl sweat--> hypovolemia and excessive Na loss