Usmle - Disorders

Front 1

Orotic Acid in urine with hyperammonemia?

Would megaloblastic anemia be present?

Back 1

Ornithine transcarbamoylase def. (urea cycle)

Leads to a build up of orotic acid due to an accumulation of carbamoyl phosphate

Nope - pyramidine synthesis is intact, no shortage of CMP/UMP/TMP

Front 2

Orotic acid in urine, megaloblastic anemia that does not correct with B12/Folate.

Is there hyperamonemia?

Back 2

Orotic Aciduria (AR)

Cant convert orotic acid to UMP (pyramidine synthesis pathway)

Carbomyl Phasphate --> Orotic Acid --> UMP --> UDP

No - Urea cycle is fine

Front 3

Leads to excess dATP and ATP which inhibits the production of dCTP/dATP/dGMP via inhibition of Ribonucleotide reductase

What is the result?

What drug has the same effect?

Back 3

ADA (bubble boy)

Major cause of SCID, unable to produce lymphocytes

Hydroxyurea - inhibits RR

Front 4

Defect in HGPRT in purine salvage pathway

What does it cause?

Back 4

Lesch-Nyhan syndrome (XR)

No way to salvage Guanosine or Inosine/Hypoxanthine --> Xanthine buildup -> gout

Mental retardation, self-mutalation,

Front 5

Mutation in nucleotide excision repair causes?

Back 5

Xeroderma pigmentosum

Endonuclease removes nucleotide. Repair of thymidine dimers.

Front 6

Mutation in mismatch repair causes?

Back 6

HNPCC

Front 7

Failure of addition of manose-6 phosphate to proteins. What is it and where does failure occur?

Characteristics?

Back 7

I - Cell disease. Problem in Golgi.

Failure of lysosome proteins to be targeted to the lysosome. Clouded corneas, coarse facial features, restricted joint movement

High plasma levels of lysosomal enzymes

Front 8

Immotile cilia syndrome

Why?
What is the result?
Associated with?

Back 8

Kartageners Syndrome

dynein arm defect

Male/Female infertility, bronchiectasis, recurrent sinusitis

Situs inversus

Front 9

Vit C deficiency (Scurvy)

What does it affect?
Where does it occur?

Back 9

Hydroxylation of proline and lysine (Type I collagen)

In the ER at the pre-procologen stage

Front 10

Glycosolation of collagen forms procollagen (tripple helix). Disease that disrupts the proper triple helix formation?

Which Collagens?

Back 10

Osteogenesis Imperfecta (AD)

Type I collagen - multiple fractures with minimal trauma, Blue sclera, hearing loss, dental imperfections

Front 11

Defect of collagen synthesis that occurs outside the fibroblast, due to def in propeptidase cleavage of the N/C terminus?

Which collagens?

Back 11

Ehlers- Danlos (AD or AR)

Type III - hyper-extensible, berry aneurysms, organ rupture

Front 12

Disorder associated with type IV collagen.

Where is type IV collagen found?

Back 12

Alports Syndrome (XR) - hereditary nephritis and deafness, ocular disturbance

Basement membrane (especially the kidney)

Front 13

Connect Marfans and Emphysema, both involve what?

Back 13

Elastin

Fibrillin - Marfans syndrome (AD) (cystic medial necrosis or aorta, floppy mitral valve, subluxation of lens)

Emphysema - alpha 1 antitrypsin def (results in excess elastase activity)

Front 14

Deletion of genes on the paternal chromosome 15?

Back 14

Prader willi Syndrome

Mental retardation, hyperphagia, obesity, hypogonadism, hypotonia

Front 15

Deletion of genes on the maternal chrom 15?

Back 15

Angelman Syndrome

Mental retardation, seizures, ataxia, inappropriate laughter, happy puppet,

Front 16

Disorder that results in phosphate wasting at proximal tubule?

Back 16

Hypophosphatemic Rickets (AR)

Vit. D resistant rickets

Front 17

Mitochondrial inheritance disorders, 2 common ones

Back 17

Myopathies, Lebers hereditary optic neuropathy

Front 18

Dwarfism and short limbs, with enlarged head and trunk?

What is its unique risk factor?
What does the defect due?

Back 18

Achodroplasia (AD)

Cell signaling defect of fibroblast growth factor receptor 3 -

Inhibits chondrocyte proliferation and thus endochondral ossification. Axial bone growth (intramembranous ossification is usually normal)

Advanced paternal age

Front 19

Associated with polycystic liver disease, berry aneurysm, mitral valve prolapse

Back 19

Polycystic Kidney Disease (AD) - APKD1 (16)

Bilateral, HTN, flank pain, hematuria, renal failure

Front 20

Deleted on chrom 5

Back 20

APC gene (AD) - Polyposis colon cancer

Front 21

Absent LDL receptor resulting in increased LDL cholesterol levels

Back 21

Familial Hypercholesterolemia (AD)

Tendon Xanthomas (achilles), corneal arcus.
MI may develop before 20

Front 22

Mucosal telangiectasias and recurrent epistaxis, skin discoloration, and GI bleeds.

Back 22

Hereditary hemorrhagic telangiectasia (AD)

(Osler weber Rendu syndrome)

Telangiectasias are AVM's, can also have GI telangiectasias

Front 23

Defect in Spectrin or ankyrin

Cure?

Back 23

Hereditary spherocytosis (AD)

Cure with splenectomy

Front 24

Caudate atrophy, progressive dementia, choreiform movements

What neurotransmitters are decreased?

Back 24

Huntingtons (AD), (4 - CAG)

Decreased GABA and ACh --> proposed treatments have involved glutaminergic inhibition

Front 25

Associated with ret gene?

Back 25

MEN 2A / 2B (AD)

MEN 1 = Pituitary, Pancreatic, Parathryoid
MEN 2A = Pheo, Parathyroid, Medullary (C cells)
MEN 2B = Medullary, Marfinoid (mucosal neuromas), Pheo

Front 26

Findings are: Cafe-au-lait, neural tumors, pigmented iris hamartomas (Lisch nodule)

What is it associated with?

Back 26

NF1 (AD) (17) - von recklinghausens disease

Skeletal abnormalities (scoliosis), optic pathway gliomas, pheo, increased tumor susceptibility,

PHEOCHROMOCYTOMA

Front 27

Acoustic neuroma and juvenile cataracts?

Back 27

NF2 (AD) (22)

Front 28

Patient has bilateral renal angiomyolipoas and ash-leaf skin patches?

What else are they likely to have?

Back 28

Tuberous Sclerosis (AD)

Also commonly have harmartomas in brain leading to seizures, facial lesions, ash-leaf spots = hypopigemented spots on skin, seizures, mental retardation,

Cardiac rhabdomyoma

Front 29

Hemangioblastoma (rentina/cerebellum/medulla)

50% will develop renal cell carcinoma (bilateral)

What does the mutation cause?

Back 29

VHL (AD) (3)

VHL is tumor supressor, result is constitutive expression of HIF and activation of angiogenic growth factors

Front 30

Infantile form associated with polycystic kidneys

Back 30

ARPKD (AR) - APKD2 I think

Front 31

Meconium Illeus, resp infections with pseudamonus, absence of the Vas deferans, Pancreatic insufficiency

Back 31

CF (AR) (7) - secretes CL in lungs, absorbs it on the skin from sweat

Most common lethal genetic disease of caucasians. ATP-gated transmembrane receptor. Cant get to surface??

Front 32

Bronze diabetes, Liver failure

Back 32

Hematochromatosis (AR)

Front 33

Unable to produce tyrosine?

Back 33

PKU (AR)

Phenylalanine Hydroxylase

Front 34

X Linked - name them

Back 34

Be Wise Fools GOLD Heeds Silly Hope

Bruntons agammaglobulinemia, Wiskott-Aldrich, Fabrys disease, G6PD, Ocular Albinism, Lesch - Nyhan, Duchenne (becker) muscular dystrophy, Hunters Syndrome, Hemophilia A/B

Front 35

Weakness that begins in Pelvic Girdle progresses superiorly (gowers maneuver). Calf pseudohypertrophy, cardiac myopathy

Difference between the 2 kinds

Back 35

Muscular Dystrophy (XR) - Dystrophin

Duschennes - Deleted (frame shift) Onset before age 5
Beckers - Mutated (less severe, adult or early adolescence)

Front 36

2nd most common cause of genetic mental retardation.

Macro-orchidism, long face and jaw, everted ears, autism, prolapse mitral valve

Back 36

Fragile X Syndrome - FMR1 (CGG)

>200 = disease, <200 = pre-mutation carrier, results in hypermethlyation of gene.

Front 37

Repeat Expansion Diseases, name em

Back 37

HD, Myotonic Dystrophy, Friedreichs ataxia, Fragile X syndrome

germline expansion in females

EXCEPT HD -- EXPANSION IN MALES

Front 38

Fragile X ataxia syndrome

Back 38

Men > women, affect FMR1 gene

Front 39

Most common cause of congenital mental retardation. Flat facie, epicathial folds, simian crease, duodenal atresia, VSD

What are they at increased risk for later in life?

Back 39

Down Syndrome (Trisomy 21),

APP = increased risk of Alzheimer's disease
Increased risk for Multiple myeloma, ALL

95% from maternal non-disjunction (meiosis I, advanced maternal age)

Front 40

Mental retardation, rocker bottom feet, micognathia (small jaw), low ears, clenched hands, congenital heart disease. Death within 1 year

Back 40

Edward (Trisomy 18)

Most common trisomy after downs.

Front 41

Mental retardation, rocker bottom feet, cleft lip, holoprosencephaly, polydactyly, congenital heart disease. Death within 1 year

Back 41

Patau Syndrome (Trisomy 13)

Front 42

Microcephaly, moderate mental retardation, epicanthial folds, cardiac abnormalities, distinct sound - Chrom 5

Back 42

Cri - du - chat syndrome

Microdeletion of the short arm of chrom 5
(Also have a high pitched crying/mewing noise)

Front 43

Elfin faces, mental retardation, hypercalcemia, extreme friendliness with strangers, Cardio problems

What structural gene is included in the deletion?

Back 43

Williams Syndrome

Microdeletion of chrom 7 (includes elastin gene)

Front 44

T Cell deficiency, Cardiac defects, hypocalcemia

What is the embryology of it?

Back 44

22q11 deletion syndrome - DiGeorge -

Thymic aplasia, parathyroid aplasia, and cardiac defects

Vental 3rd brachial pouch --> Thymus
Dorsal 3rd --> Inferior PTH gland
Dorsal 4th --> Superior PTH gland

Front 45

Cleft Palate, , Abnormal facies, Cardiac problems

Back 45

22q11 deletion syndrome - Velocardiofacial syndrome

Palate, facial, and cardiac defects (Truncus arteriosus, tetrology of fallot)

Front 46

Confusion, ophthalmoplegia, ataxia, memory loss, confabulation, personality changes?

What does ophthalmoplegia mean?

Back 46

Thiamine (B1) def. Wernicke-Korsakoff

Can occur secondary to EtOH malnutrition (Dont give glucose in someone with suspected B1 def because it increases the need for B1 in the TCA and will precipitate WK syndrome.

Paralysis of one or more extraoccular muscle

Front 47

Polyneuritis and symmetrical muscle wasting?

What is the mechanism and cofactor?

Back 47

Dry beriberi

B1 (thiamine) TTP

Results in decrease in ATP. Highly aerobic tissues damaged first (brain/heart)

Front 48

High output cardiac failure and edema (dilated cardiomyopathy)

Cofactor?

Back 48

Wet Beriberi

Thiamine pyrophosphate (TPP) - B1 - Thiamine

Front 49

Inflammation of lips, scaling fissures at the corners of the mouth and Corneal vascularizatoin

Cofactor?

Back 49

B2 (Riboflavin)

Cheilosis is the fissuring thing

Front 50

Someone who lives only on corn and has Diarrhea, Dementia, Dermatitis, Death

Cofactor involved and the co-factor required for its production?

Back 50

Pellagra

B3 (Niacin), Derived from Tryptophan and needs B6 (Pyridoxine)

Front 51

Glossitis that can lead to Pellagra. Vitamin? What are 3 causes that relate to impaired production of it?

Back 51

B3 (Niacin)

1) Hartnup disease (AR), impaired tryptophan absorption from gut and proximal tubule of kidney
2) Carcinoid syndrome (increased Tyrptophan metabolism)
3) INH therapy (decreases B6)

Front 52

Women of child bearing age with TB and new onset sideroblastic anemia, convulsions, hyperiritabilty, and peripheral neuropathy?

Back 52

Induced def. of B6 (pyridoxine) due to INH therapy for TB + Oral contraceptives

Front 53

Def. Results in hypersegmented PMN's, megaloblastic anemia, and CNS dysfunction involving the posterior columns.

What is a parasite that can cause this?

Back 53

B12 def. Can be caused by malabsorption in the distal ileum or lack of IF (pernicious anemia)

Diphyllobothrium latum

Front 54

Macrocytic megaloblastic anemia without CNS sx. and quick onset

Name 3 drugs that can cause it?

Back 54

Folate def.

1) Phenytoin
2) Sulfonamides (trimethoprin)
3) Methotrexate

Front 55

Crazy person that is eating a ton of raw egg whites because they want to be like Rocky might have a deficiency of this? Which would cause a problem with this (3)?

Back 55

Biotin - 1 carbon additions

1) Pyruvate Carboxylase, Pyruvate --> oxaloacetate (4C)
2) Acetyl-coA carboxylase, AcetylCoA --> MalonylCoA (3C)
3) PropionylCoA Carboxylase, PropionylCoA --> methylmalonylCoA (4C)

Front 56

Swollen gums, anemia, bruising, and poor would healing

Back 56

Scurvy (Vit. C)

Front 57

Neonatal hemorrhage with increase in PT / PTT with normal bleeding time

Back 57

Vitamin K def (II, VII, IX, X),

need bacteria to synthesize it. Broad spectrum AB could also cause this

Front 58

Hartnup disease

Which vitamin can be def?

Back 58

Impaired absorption of tryptophan in the GI and impaired reabsorption in the renal tubule.

Can result in B3 (Niacin) def due to impaired production. Also requires B6.

Front 59

Someone with vomiting, garlic breath, and rice water stools.

What is the Co-factor that is inhibited and in what step of metabolism?

What else can cause a deficiency in the same place and lead to WK and BB

Back 59

Arsenic Poisoning

Lipoic acid in the pyruvate dehydrogenase complex (Pyruvate --> Acetyl-CoA)

B1 - Thiamine Def - EtOH ingestion

Front 60

4 fates of Pyruvate?

Back 60

1) Lactate via LDH
2) Acetyl-CoA via Pyruvate dehydrogenase complex
3) Alanine via ALT
4) Oxaloacetate via pyruvate carboxylase

Front 61

Hypoglycemia with jaundice cirrhosis and vomiting. Maybe with an onset after starting fruit juice.

What is def?

Back 61

Fructose intolerance (AR) - Aldose B def.

F-1-P accumulates reducing available Phosphate for glycogenolysis and gluconeogenesis

Front 62

Fructose appears in Urine.

Fructose intolerance or essential fructosuria?

Which Enzyme is involved?

Back 62

Essential Fructosuria (AR) - Fructokinase def.

Fructose never gets phosphorylated (doesn't enter cell) so its not as big a problem as fructose intolerance.

Front 63

Infant who develops jaundice, hepatomegaly, failure to thrive, mental retardation, and infantile cataracts?

What is doing the damage?

Back 63

Classic Galactosemia (AR) - Galactose-1-phosphate uridyltransferase

Damage is the result of toxic intermediate production (galacticol --> eye damage)

Galactose --> Galactose-1-P --> Glucose-1-P

Front 64

Galactose in blood and urine. Infantile cataracts and a problem with developing a social smile.

Is galacticol present?

Back 64

Galactokinase def. (AR) - less severe because Galactose doesn't get trapped in cells because it never gets phosphorylated

Yes, aldose reductase converts galactose to galacticol.

Front 65

Dark connective tissue, pigmented sclera, urine turns black on standing?

What is the defect?

Back 65

Alkaptonuria (AR)

Defect in Homogentisic Acid Oxidase,

which is in the tyrosine --> Fumarate pathway (Tyrosine breakdown)

It is Homogentisic Acid that accumulates in the urine and tissues

Front 66

Can result from a lack of migration of neural crest cells. With an increased risk of skin cancer due to the inability to make melanin?

Where is the defect?

Back 66

Albinism (variable).

Either Tyrosinase def. or Defective tyrosine transporter.

Phenylalanine --> Tyrosine --> Dopa --> Melanin

(Not a defect in tyrosine hydroxylase, that would block dopamine and everything after it)

Front 67

Can cause athersclerosis, lens subluxation, mental retardation, and osteoporosis. 3 Causes.

What AA becomes essential?

Back 67

Homocystinuria (AR)

1) Cystathionine def.
2) Decreased affinity of cystathione synthase for B6
3) Homocysteine methyltransferase def (B12).

Cysteine becomes essential.

Front 68

Can lead to the production of staghorn calculi (cystine stones)

Mechanism?

Back 68

Cystinuria (AR).

Defective in AA transporter in proximal tubule for COLA (cysteine, ornithine, lysine, arginine)

Note: Cystine is 2 cysteines with a disulfide bond

Front 69

Increase in alpha-keto acids in blood especially leu (Branched chain AA)

CNS defects, mental retardation, and death

Back 69

Maple syrup urine disease

Problem with degradation of branched chain AA degradation (Ile, Leu, Val)

Front 70

Severe fasting hypoglycemia, increased glycogen in the liver, and increased lactate in blood. What enzyme?

Back 70

Glucose 6 phosphatase. (Von Gierkes)

Glucose cant exit liver, glycogen builds up in liver.

Front 71

Cardiomegaly and systemic findings leading to early death. Buildup of glycogen in lysosomes. Enzyme?

Back 71

Pompes

Lyososomal alpha 1, 4 - glucosidase

Front 72

Problem with breaking down branched chain glycogen (alpha 1, 6 bonds). Enzyme?

Back 72

Alpha 1, 6 debranching enzyme. (Coris disease)

Some fasting hypoglycemia and glycogen buildup in the liver

Front 73

Buildup of glycogen in muscle. Leads to painful muscle cramps, myoglobinuria with strenuous exercise. Enzyme?

Back 73

Muscle glycogen phosphorylase (McArdles disease).

Breaks alpha 1, 4 bonds in muscle.

Front 74

Peripheral neurophathy of hands and feet, angiokeratomas (red/blue skin marks), CV/Renal disease?

Only XR Spingolipidoses - Ceramide trihexoside accumulates

Back 74

Fabrys disease (XR)

alpha - galactosidase A

Front 75

Hepatosplenomegaly, aseptic necrosis of the femoral head, bone crisis?

Most common Spingolipidoses - Glucocerebrosidase

Back 75

Gauchers disease (AR). Most common

B-glucoocerebrosidase

Front 76

Progressive neurodegeneration, cherry red spot on macula, foam cells, hepatosplenomegaly?

What is the defect?

Back 76

Nieman - Pick (AR)

Sphingomyelinase

Front 77

Progressive neurodegeneration, cherry red spot on macula, lysosomes with onion skinning?

No hepatosplenomegaly

Back 77

Tay-Sachs (AR)

Hexosaminidase

(Nieman-Pick has hepatospleno)

Front 78

Peripheral neuropathy, developmental delay, optic atrophy, globoid cells?

Galactocerebroside accumulates

Back 78

Krabbe's Disease (AR)

Galactocerebrosidase

Front 79

Central and peripheral demyelination with ataxia, dementia?

Cerebrosidase sulfate accumulates

Back 79

Metachromatic Leukodystrophy (AR)

Arylsulfatase A

Front 80

Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly?

Back 80

Hurlers syndrome (AR)

A-L-iduronidase

Hunters syndrome is similar in presentation, but less severe, except for the aggressive behavior part, maybe thats why its called hunters syndrome

Front 81

Mild Hurlers syndrome (Developmental delay, gargolyism, airway obstruction) and aggressive behavior without corneal clouding?

Back 81

Hunters syndrome (XR)

Iduronate sulfatase - Heparan sulfate and durmatan sulfate accumulates.

Front 82

Weakness, hypotonia, with Hypoketotic Hypoglycemia?

Back 82

Carnitine deficiency.

(Inability to transport LCFA from cytoplasm to mitochondria)

If you can't B-oxidize FA in the mito then you can't make ketone bodies.

Front 83

Symptoms apear in the first few months of life. Intestinal biopsy shows accumulation within enterocytes due to an inability to export chylomicrons?

Which Apo proteins are involved?

Back 83

Abeta-lipoproteinemia (AR)

Inability to synthesize liproproteins. Def. in B-100 and B-48

B-100 -> LDL receptor
B-48 -> Mediates chylomicron secretion

Front 84

15 year old with progressive ataxia, gait instability. Kyphoscoliosis and pes cavus is present. Hypertrophic cardiomyopathy is also noted?

Back 84

Friedreich Ataxia (AR)

Degeneration of the posterior columns and spinocerebellar tracts. Loss of neurons in the dorsal root ganglion. 50% have hypertrophic cardiomyopathy.

Front 85

Normal 4 year old girl who presents with developmental regression, new onset mental retardation, loss of verbal abilities, ataxia, and stereo-typed hand wringing?

Back 85

Retts Disorder (XR)

Only girls, males die in utero

Front 86

You find an infant with a puffy face, pot belly, protruding umbilicus, and protuberant tongue.

Dx? And most likely cause?

Back 86

Cretinism - maternal hypothyroidism

Most often occurs in areas where endemic goiter is prevalent, iodine def diet
(Like China)

Front 87

Patient presents with a triad of glossitis, esophageal webs, and iron def. anemia?

Back 87

Plummer-Vinson syndrome

Front 88

Manifest as iron laden RBC and can be inherited or inducible?

Treatment? Where is the defect?

Back 88

Sideroblastic anemia (microcytic)

Increase B6 for XR version,

Eliminate meds, EtOH, or lead, isonazid

ALA synthase

Front 89

Cystic spaces lined with osteoclasts, fibrous stroma, and sometimes blood. ALP level is elevated, and serum phosphorus is low?

Back 89

Oseitis fibrosa.

Caused by hyper- PTH

Serum Ca is high, ALP is high, Serum phosphorus is low

Front 90

Disease associated with abnormal bone architecture with an increase in both osteoblastic and osteoclastic activity?

Which cranial nerve might be affected?

Back 90

Pagets disease of bone

Serum Ca, phosphorus, and PTH are normal. ALP is increased.

Osteoclast causes the initial lesion. CN VIII is often affected (auditory)

Front 91

Failure of normal bone resorption. Leads to pancytopenia and sometime compression of CN VII

What is the defect?

Back 91

Osteopetrosis -

Decreased marrow space causes pancytopenia

Def. of Carbonic anhydrase II

XRAY - Erlenmyer flask bones

Front 92

Defective mineralization/calcification of osteoid?

Back 92

Osteomalacia in Adults and Rickets in kids.

Vit. D or phosphorus def.

Front 93

6 year old girl presents with significant breast development. She has a hx of multiple unilateral bone lesions with irregular bony trabechule and cafe-au-lait spots are noted?

Back 93

McCune-Albright Syndrome

1) Unilateral bone lesions (Polyostotic fibrous dysplasia)
2) Cafe-au-lait spots
3) Endocrine abnormalities (precocious puberty)

Front 94

Patient with stiff joints that involve the DIP? If it didn't what might it be?

Back 94

Probably osteoarthritis - Heberdens nodes (DIP) and Bouchard nodes (PIP)

Rheumatoid arthritis does NOT affect the DIP. (Type III hypersensitivity)

Front 95

Anti-IgG Ab and anti-CCP Ab. Disease is associated with HLA-DR4?

Back 95

Rheumatoid arthritis, morning stiffness that gets better with use.

Front 96

Patient comes in complaining of Xerophthalmia, xerostomia, and arthritis?

What do these words mean?

Back 96

Sjogrens syndrome

Class triad
1) Xerophthalmia - dry eye/conjuctavitis
2) Xerostomia (dry mouth, dyphagia)
3) Arthritis

W/out arthritis + resp dryness = Sicca Syndrome

Front 97

Autoimmune disorder where Ab attack the lacrimal glands and parotid glands?

What are the Ab's and what are they directed against?

Back 97

Sjogrens Syndrome

SS-A (Ro0, SS-B (La)

Directed against ribonucleoprotein antigens

Front 98

Associated with anti-Scl-70 antibody?

What is this an AB against?

Back 98

Diffuse scleroderma

Anti-DNA Topoisomerase I antibody

Front 99

Disease associated with anti-centromere ab?

What are the 5 components?

Back 99

CREST Syndrome (cutaneous benign form of scleroderma)

Calcinosis
Raynauds
Esophageal dysmotility
Sclerodactyly
Telangiectasias

Front 100

Patient with short stature where the axial and appendicualr skeletons are proportional to each other?

Back 100

GH def / IGF-1 def

Front 101

Patient presents with anti-dsDNA AB and ant-smith AB. With new onset of Mitral regurgitation. Cause?

Back 101

Libman-Sacks endocarditis

Verrucous (wart like) sterile vegitations on both sides of the valve.

Strong association with SLE

Front 102

Patient presents with hematuria, with red cell casts and large nodular density on chest Xray. On biopsy it is a necrotizing granuloma.

Back 102

Wegeners Granulomatosis (c-ANCA)

Triad of
1) Necrotizing vasculitis
2) Necrotizing granulomas in airways
3) Necrotizing glomerulonephritis

Front 103

Granulomatous vasculitis with eosinophilia.

Patient has peripheral neuropathy (foot drop), asthma, sinusitis.

Back 103

Churg-Strauss Syndrome

Can also involve GI, kidney, and heart

Front 104

Congenital disorder with port wine stain on face, ipsilateral leptomeningial angiomatosis (AVM), seizures, and early onset glaucoma

Back 104

Sturge-Weber disease

Front 105

Child presents with palpable purpura on legs, arthralgias, and abdominal pain with melena following a URI?

What is it associated with in the kidney?

Back 105

Henoch-Schonlein Purpura

IgA nephropathy

Front 106

Immune complex mediated transmural vasculitis with fibrinoid necrosis. What virus is it associated with?

Back 106

Polyarteritis nodosa - p-ANCA

Hep B in 30% of cases. Involves renal and visceral vessels most frequently

NO Resp involvement

Front 107

Granulomatous thickening of arch and proximal great vessels affecting asian females <40

Back 107

Takayasus arteritis - "Pulseless disease"

Fever, arthritis, night sweats, myalgias, skin nodules, weak pulses in upper and lower extremities

Elevated ESR

Front 108

Patient with unilateral HA, jaw claudication, and new onset of impaired vision?

Back 108

Temporal arteritis (giant cell)

Most common vasculitis affecting medium and large arteries, usually branches of the carotid. Can lead to blindness.

Giant cells are present on biopsy, ESR is elevated

Front 109

Patient complains of a painful finger. You notice a red-blue mark under the nail?

Back 109

Glomus tumor -

Benign tumor that arrises from smooth muscle cells of the glomus body

Front 110

Defect in collecting tubules ability to excrete H+?

Associated with?

Back 110

Type I RTA

Hypokalemia and Ca kidney stones

Front 111

Defect in proximal tubules ability to reabsorb HCO3?

Associated with?

Back 111

Type II RTA

Hypokalemia and Hypophosphatemic Rickets

Front 112

Defect in collecting tubules response to aldosterone or lack of aldosterone?

Associated with?

Back 112

Type III RTA

Hyperkalemia and inhibition of ammonia excretion in proximal tubule - acidic urine

Front 113

Defect in DNA repair leading to aplastic anemia and an increased risk of cancer?

Patient are often born without thumbs

Back 113

Fanconi Anemia (AR)

Defect in DNA repair --> aplastic anemia

Front 114

Problem with reabsorbing uric acid, HCO3, AA, Phosphate, glucose, protein, and electrolytes in the PCT?

What are some causes of the acquired kind?

Back 114

Fanconi Syndrome

1) Wilsons disease
2) Glycogen storage diseases
3) Cisplantin/Expired tetracycline

Can lead to Rickets, Type II RTA, Hypokalemia