mhewett's version from 2016-05-09 22:33

3-7 3a3 Autosomal Dominant Diseases

Question Answer
What is phacomatoses?neurocutaneous syndromes
How many types of phacomatoses are there?(aka neurocutaneous syndromes)
1) NF1 2) NF2 3)Tuberous sclerosis 4) von-Hippel Lindau
What is von Recklinghausen Disease?NF1; neurofibromas, optic nerve gliomas, pigmented nodules in iris (Lisch nodules), cafe au lait spots (>6), axillary freckling*** (earliest manifestion and not found anywhere else)
What causes von Recklinghausen Disease?loss of NF1 gene on chromosome 17
What is acoustic neurofibromatosis?NF2; bilateral schwannomas, multiple meningiomas, hearing deficits
What causes acoustic neurofibromatosis?d/t loss of NF2 genes
What is tuberous sclerosis?hamartomas and benign tumors of brain (rare disorder)--> brain's surface looks like a potato with eyes
How else does tuberous sclerosis present?cysts of liver, kidney, pancreas; intellectual disability; facial angiofibromas, cutaneous lesions: Shagreens patch (yellowish patch over presacral region) and Ash leaf patches (hypopigmented areas on skin in leaf shape)
Von Hippel Lindau has high risk of?renal cell carcinoma
What is Von Hippel Lindau?capillary hemangiomas in cerebellum and retina + cysts of liver, kidney, pancreas
What kidney disorder causes high alkaline phosphatase?renal cell carcinoma
When does Huntington's disease become symptomatic?30-40 yo
Huntington's involves degeneration of?caudate nucleus, putamen, frontal cortex
How do Huntington's patients present?marked by chorea, psychiatric disturbance, cognitive decline
What causes Huntington's?d/t trinucleotide repeat of CAG on chromosome 4 - the more repeats someone has, the earlier the disease with show symptoms
What is PKD adult type?renal cysts develop in early adulthood
What is a patient with PKD adult type at risk of?high risk of berry aneurysms
What is the most common aneurysm?berry aneurysms generally on circle of willis
What happens if berry aneurysm ruptures?subarrachnoid hemmorhage (worst headache of my life!)

3-7 3b X-Linked Recessive Diseases, Deletions, HLA

Question Answer
What causes hemophilia A?lack of factor VIII
What causes hemophilia B?lack of factor IX
What do radical oxygen species do?causes hemolysis and tissue damage
What enzyme is responsible for radical removal from RBCs?glucose 6 phosphate dehydrogenase
What drugs do you need to avoid with G6PD deficiency and why?sulfas bc they bring about more radicals
What causes fragile X syndrome?triple repeat disorder of CGG that demonstrates anticipation; results in structural defects in chromosome X
What are clinical findings of fragile X syndrome?intellectual disability, large ears and jaw, in males-bilat macroorchidism,
What is Fabry disease?a type of sphingolipidosis (when you can't break down lipids)
What differentiates Fabry from other types of sphingolipidosis?it does not cause serious CNS disorders, x linked recessive (instead of autosomal recessive)
What causes Fabry disease?decreased alpha-galactosidase A
How do patients with Fabry's present?angiokeratomas (wart-like growths with telangiectasias) and renal failure
What causes Lesch-Nyhan syndrome?deficiency in hypoxanthine-guanine phosphoribosyltransferase (HGPRT), resulting in excessive production of uric acid
How do Lesch-Nyhan syndrome patients present?self mutilation
What causes Duchenne muscular dystrophy?lack of dystrophin, a protein necessary for normal muscle tone and function
How will a patient with Duchenne's present?high CK, proximal muscle weakness, eventual muscle atrophy
What causes Becker muscular dystrophy?decreased dystrophin
How does Becker's present?like Duchenne, but less severe
What causes Bruton's agammaglobulinemia?low or absent MATURE B cells
How do patients with Bruton's aggamaglobulinemia present?recurrent bacterial infections
What is the classic triad of Wiskott-Aldrich syndrome?otitis media, eczema, thrombocytopenia
What causes Wiskott-Aldrich syndrome?IgM dysfunction
What is chronic granulomatous disease?granulomas form bc neutrophils and macrophages are unable to eradicate the foreign substance
What is Hunter's disease?only mucopolysaccharidosis that is X-linked recessive
How does Hunter's present?marked by intellectual disability and normal corneas
How do you determine platelet size on a lab test?MPV (mean platelet volume)
MPV is lower than normal in what syndrome?Wiskott-Aldrich
What disease results from 5p deletion?cri du chat - high pitched cat like cry, microcephaly, intellectual disability
What disease results from 13q deletion?retinoblastoma - malignant retinal tumor of childhood
What disease is associated with A3?hemochromatosis
What diseases are associated with B27?ankylosing sondylitis, reactive arthritis (Reiter's syndrome)
What diseases are associated with DR2?narcolepsy, multiple sclerosis, T1D
What diseases are associated with DR3?SLE, T1D, celiac disease
What diseases are associated with DR4, Dw4, Dw14?RA, juvenile RA, T1D

3-7 3b Most Common Causes

Question Answer
Pancreatitisalcohol abuse
AnemiaIron deficiency
Nephrotic syndrome - childrenminimal change disease
Nephrotic syndrome - adultsmembranous glomerulonephritis
Osteomyelitis - overallStaphylococcus aureus
Osteomyelitis- diabetics and sickle cell disease patientsSalmonella spp
Osteomyelitis - IV drug usersSerratia and Pseudomonas aeruginosa
Kidney stonesdehydration
PneumoniaStreptococcus pneumoniae
Ascitiesalcoholic cirrhosis
Death in USheart disease
Male pseudohermaphroditismtesticular feminization
Female pseudohermaphroditismandrenogenital syndrome (congenital adrenal hyperplasia)
Calf claudicationperipheral vascular disease (PVD)
Left-sided heart failurecoronary artery disease (CAD)
Atherosclerosiselevated LDL-cholesterol
DVTblood statuses (especially in late pregnancy, and after Sx or prolonged immobility)
A cold in fall/winterrhinovirus
A cold in spring/falladenovirus
BronchiectasisCystic fibrosis
Pleural effusionCHF
Pulmonary edemaCHF
Septic shockGram-negative bacteria
Poisoning in USCarbon monoxide
Iron deficiency at >50 years of ageColon cancer
Vomitingviral infection
Hematemesisduodenal ulcer
Melenaduodenal ulcer
Acute RLQ painappendicitis
Acute infectious diarrheanorovirus
Small bowel obstructionadhesions
Erectile dysfunctiondiabetes
HyperthyroidismGraves disease
HypothyroidismHashimoto's disease
Yellow CSF ("xanthochromia")Bleed in CNS
Acute onset comaPoisoning or Drug OD
Blindness in the elderlyMacular degeneration
TremorEssential tremor
DementiaAlzheimer's disease
HeadacheTension headache

3-7 e SLE

Question Answer
What is the SLE triad?malar rash, lupus nephropathy, arthritis
What type of hypersensitivity is SLE?types II, III
What are the autoantibodies associated with SLE?ANA (sensitive test), anti-ds DNA (most specific), anti-Smith (specific)
What are sensitive tests used for?screening
What are specific tests used for?confirmation of diagnosis
In SLE, what characteristic body regions are affected most?skin (photosensitivity), CNS (seizures or brief psychotic episodes), kidneys, joints
What ethnicity does SLE affect most?AA; and more severe with them
What phospholipid does SLE have antibodies for?cardiolipin
Why does VDRL test positive in both SLE and syphilis pts?cardiolipin present
What is the DOC for someone with very mild SLE and why?aspirin bc it is an anti inflammatory and also a platelet aggregation inhibitor; it just isn't as strong as what they will eventually need (steroids)
What is Hughes syndrome?antiphospholipid antibody syndrome; these pts are hypercoagulable so they get clots, DVTs, recurrent spontaneous abortion (form clots in vessels of placenta)
What are the 4 types of nephropathy?mesangial disease, focal proliferative nephritis, diffuse proliferative nephritis, membranous glomerulonephropathy
What is mesangial disease in SLE?most common and mildest and belongs to class II lupus nephropathy
What is focal proliferative nephritis in SLE?class III lupus nephropathy
What is diffuse proliferative nephritis in SLE?class IV lupus nephropathy, most severe
What is membranous glomerulonephropathy in SLE?class V lupus nephropathy

3-7 e 4.2, 4.3

Question Answer
What is CREST?it is a focal sclerosis (calcinosis, raynaud's, esophageal dysmotility, sclerodactyly, telangiectasia)
What is progressive systemic sclerosis?visceral organ fibrosis, facial tightening, sclerodactyly; anti-scl-70 ab
What is Sjogren's syndrome?autoimmune destruction of lacrimal and salivary glands; anti-Ro, anti-La ab; xerostomia, keratoconjuctivitis sicca, arthritis +/- bilat parotid gland enlargement
What are the 4 major classifications of immunodeficiency?phagocyte disorders, humoral immunity disorders, cell-mediated disorders, combined b-cell and t-cell disorders
What causes chronic granulomatous disease?deficient NADPH oxidase, causing impaired respiratory burst
What causes Job's syndrome?deficient gamma-interferon
What causes Chediak-Higashi syndrome?impaired microtubules, limiting WBC movement and use of granules
What causes Bruton's agammaglobulinemia?no mature B cells
What causes IgA deficiency?IgA-producing plasma cells fail to develop
What causes DiGeorge Syndrome?defect in 3rd and 4th pharyngeal pouches results in developmental failure of thymus and parathyroids
What is Chvostek's test?tapping over facial n of hypocalcemic pt results in facial spasm
What causes SCID?1) IL-2 receptor defect on CD4, CD8 cells OR 2) T cell secondary messenger system defect OR 3) Defect in t cell ability to interact with APCs OR 4) absence of adenosine deaminase (ADA), resulting in increased dATP and ultimately decreased DNA production; T and B cell production severely decreased OR 5) defective class I &/or II MHC
What causes Wiskott-Aldrich syndrome?B cells not stimulated to produce IgM