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Random Triads and Stuff > Syndromes I Never Remember > Flashcards

Syndromes I Never Remember Flashcards

1
Q

Alport Syndrome

A

Dominant X-linked Hereditary syndrome affecting:

  1. Kidneys (GN and ESRD), 2. Ears (sensorineural deafness)
  2. Eyes (cataracts, lenticonus keratoconus, retinal flecks in macula)

2/2 collagen IV biosynthesis mutations

S/S: basket-weave GBM due to splitting of lamina densa layer

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2
Q

POTTER Syndrome

A

Think oligohydramnios
2/2 ARPKD, posterior urethral valves, b/l renal agenesis

S/S:
Pulmonary hypoplasia
Oligo (trigger)
Twisted face
Twisted skin
Extremity defects
Renal failure
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3
Q

Fanconi Syndrome

A

Reabsorptive defect at proximal tubule cells 2/2 damage

2/2: Hereditary (Wilson), ischemia, nephrotoxins, Cystinosis in peds(lyosomal storage disease)

S/S: Increased excretion of:
- AA
- glu
- HCO3 --> RTA
- PO4 --> Rickets / growth failure 
Also:
- hypokalemia
- hyperchloremia 
- polyuria, polydipsia, dehydration
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4
Q

Hartnup Disease

A

AR (chr5) metabolic d/o affecting absorption of nonpolar AA (esp tryptophan that’s needed for 5-HT, melatonin, and niacin)

S/S:

  • FTT
  • photosensitivity
  • Intermittent ataxia
  • Nystagmus
  • tremor
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5
Q

Bartter Syndrome

A

AR Renal Tubular Defect
Reabsorptive defect in thick ascending loop b/c mut NKCC

S/S:

  • hypokalemia
  • hypercalciuria
  • metabolic acidosis
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6
Q

Gitelman Syndrome

A

AR Rental Tubular Defect
Reabsorptive defect of NaCl in distal collecting duct
(less severe than Bartter)

S/S:

  • Hypokalemia
  • Metabolic acidosis
  • NO hypercalciuria
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7
Q

Liddle Syndrome

A

AD Renal Tubular Defect
Elevated reabsorption of Na in distal tubule and CD through ENaC

S/S:

  • HTN
  • Hypokalemia
  • Metabolic Acidosis
  • Decreased Aldosterone

Tx:
- Amiloride (K-sparing diuretic)

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8
Q

Romano-Ward Syndrome

A

AD congenital long QT syndrome

Differentiated from Jervell and Lange-Nielsen Syndrome

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9
Q

Jervell and Lange-Neilsen Syndrome

A

AR congenital long QT syndrome

also has associated sensorineural deafness

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10
Q

Dressler Syndrome

A

Autoimmune manifestation that leads to fibrinous pericarditis

It is a complication of MI seen 2 weeks to several months after MI

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11
Q

Loffler Syndrome

A
  • Endomyocardial fibrosis
  • Prominent eosinophilic infiltrate

A Cause of infiltrative/restrictive CM

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12
Q

CREST syndrome

A

Connective tissue d/o that usu spares kidneys

Calcinosis
Raynaud's
Esophageal dysmotility
Sclerodactyly
Telangiectasia

Anti-centromere

a/w 10% primary biliary cirrhosis

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13
Q

Churg Strauss Syndrome

A

Small Vessel Vasculitis with Eosinophils

  • asthma and sinusitis
  • palpable purpura
  • peripheral neuropathy (wrist and foot drop)
  • granulomatous (pauci-immune) involvement with heart, GI, kidneys
  • p-ANCA/MPO-ANCA
  • elevated IgE
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14
Q

Henoch Schonlein Purpura

A

Small vessel vasculitis with IgA deposition
often following URI

  1. skin (palpable purpura)
  2. joints (arthralgias0
  3. GI (abd pain, melena)
  4. IgA nephropathy
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15
Q

Langerhans cell histiocytosis

A

Langerhans are cells from BM that can migrate from skin to LN’s

histiocytes are activated dendritic cells and macrophages

can be bone lesions or multisystem disease

Granulomas w/eosinophils, dendritic cells, lymphocytes anywhere

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16
Q

Granulomatosis w/polyangiitis

A

aka Wegener Granulomatosis

small and medium vessel vasculitis

  • Upper respiratory + Lower Respiratory + Renal
  1. focal necrotizing vasculitis
  2. necrotizing granuloma in lung and upper airway
  3. necrotizing glomerulonephritis

Labs: c-ANCA/PR3-ANCA (antiproteinase 3)

Tx: cyclophosphamide and CS’s

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17
Q

Microscopic Polyangiitis

A

small vessel necrotizing vasculitis affecting lungs, kidneys, skin

similar to Wegener except without nasopharyngeal involvement and no granulomas

  • kidneys: pauci-immune GN
  • skin: palpable purpura

Labs: p-ANCA(MPO-ANCA)

Tx: cyclophosphamide and CS

Diff from Churg Strauss:

  • no eosinophils
  • no elevated IgE
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18
Q

Buerger disease (Thromboangiitis obliterans)

A

Medium vessel segmental thrombosing vasculitis in heavily smoking men with severe thrombosis
sxs

  • claudication and gangrene
  • autoamputation of digits

Tx: smoking cessation

19
Q

Polyarteritis Nodosa

A

Medium vessel vasculitis affecting renal and visceral arteries

IC-mediated transmural inflammation of arterial wall w/fibrinoid necrosis

Arteriogram shows lots of microaneurysms and spasms

may be seropositive for HBV

Tx: Cyclophosphamide and CSs

20
Q

Temporal (giant cell) arteritis

A

large-vessel vasculitis affecting temporal artery branches

a/w polymyalgia rheumatica

can see focal granulomatous inflammation

21
Q

Takayasu arteritis

A

large vessel vasculitis causing granulomatous thickening and narrowing of aorta and proximal great vessels

Tx: CSs

22
Q

Caplan Syndrome

A
  1. RA
  2. Pneumoconioses
  3. Intrapulmonary nodules

A risk of pnuemoconioses (coal workers, silicosis, asbestosis)

23
Q

SVC Syndrome

A
  • edema of face and arms
  • swollen collateral veins of chest
  • SOB and cough
  • dysphagia
  • stridor
  • h/a
24
Q

Carcinoid syndrome

A
  • Flushing
  • Diarrhea
  • Wheezing
  • HF
  • Bronchoconstriction

2/2 endogenous secretion of 5-HT and kallikrein

Dx: 24hr urine 5-HIAA levels

TX: octreotide

25
Q

Serotonin Syndrome

A
  1. Cognitive
    - h/a, agitation, hypomania, confusion, hallcuinations, coma
  2. Autonomic
    - shivering, sweating, hyperthermia, vasoconstriction, tachycardia, nausea, diarrhea
  3. Somatic
    - myoclonus, hyperreflexia, tremor
26
Q

Neuroleptic malignant syndrome

A

life-threatening neurological d/o 2/2 neuroleptic or antipsychotics

  • muscle rigidity
  • fever
  • autonomic instability
  • cognitive changes
  • elevated plasma CPK

Diff from Serotonin syndrome:

  1. bradykinesia
  2. muscle rigidity
  3. leukopenia
27
Q

Common drug interactions for Serotonin Sydrome

A
  1. antidepressants (SSRI, SNRI, MAOI, TCA)
  2. tramadol (analgesic)
  3. 5-HT3 R antagonist ondansetron (anti-emetic)
  4. linezolid (abx)
  5. triptan (neuropsych)
28
Q

Ortner syndrome

A

MVS –> LA dilatation –> left recurrent laryngeal impingement –> hoarseness

29
Q

approved carrier proteins for vaccinations (3)

A

1) diphtheria toxin
2) neisseria meningitidis outer MB protein complex
3) tetanus toxoid

30
Q

McCune Albright Syndrome

A

Mosaicism

  • unilateral cafe au lait spots
  • d/o of bone
  • skin pigmentation
  • hormonal problems
  • premature puberty
31
Q

Mitochondrial encephalomyopathy

Inheritance and s/s’s

A

Heteroplasmy

  • neuromuscular lesions
  • ragged red skeletal muscle fibers
  • lactic acidosis
32
Q

Hemolytic uremic syndrome

1) triad
2) a/w what organism

A

triad

1) microangiopathic hemolytic anemia
2) acute renal failure
3) thrombocytopenia

shiga-toxin producing ones: EHEC, Shigella

33
Q

Tuberous Sclerosis

  1. inheritance
  2. presentation
A
  1. AD
  2. angiomyolipomas (bilateral renal) + coritcal tubers + subependymal hamartomas + sz/mr + cardiac rhabdomyomas + facial angiofibromas + ash-leaf patches
34
Q

NF-1

  1. inheritance
  2. presentation
A
  1. AD

2. optic gliomas, Lisch nodules (pigmented nodules of iris) + neurfibromas (plexiform and solitary)

35
Q

VHL

  1. inheritance
  2. presentation
A
  1. AD

2. cerebellar hemangioblastomas, retinal hemangiomas, liver cysts, b/l RCC

36
Q

Ataxia telengiectasia

  1. inheritance
  2. presentation
A

AR
Cerebellar atrophy
Severe immunodef –> repeated sinopulmonary inf’s
Increased risk of cancer 2/2 DNA repair def.
DNA hypersensitivity to ionizing radiation

37
Q

Fanconi anemia

1. mutation in

A
  1. DNA sensitivity to cross-linking agents
38
Q

WDHA syndrome

  • caused by?
  • sxs
A
  • VIPoma -> excess loss of water, Na, K in stool

- Watery Diarrhea, Hypokalemia, Achlorhydria

39
Q

Ankylosing spondylitis

A

Seronegative inflammatory arthritis a/w HLA-B27 positivity

  • results in fusion of spine and sacroiliac joints
  • arthritis of hips, shoulders and costochondral joints
  • not a/w defect of connective tissue genes
40
Q

Grave’s Disease

  • mechanism
  • presentation (4 things that are only in Graves)
A
  • Anti-TSH-receptor

- exophthalmos, periorbital edema, eye-movement limitations, pretibial myxedema

41
Q

Friedrich Ataxia

  • inheritance
  • what’s wrong
  • sxs
A
  • AR trriplet repeat
  • abnormal mitochondria function
  • ascending and descending spinocerebellar tract degneration = gait ataxia
    degeneration of dorsal columns > position and vibration loss
    kyphoscoliosis and foot abnormalities (pes cavus)
    HCM and CHF
    DM
42
Q

Reye Syndrome

  • presentation
  • a/w what
  • what age group at risk
A
  • hepatic dysfunction + encephalopathy
  • aspirin (salicylic acid)
  • 5-14yo
43
Q

Malignant hyperthermia

  • occurs after what
  • mechanism
  • inheritance of susceptbility
  • lab findings
  • tx
A
  • inhaled anesthetics esp halothane and musce relaxant succinylcholine
  • abnormal excess release of Ca from SR via Ryanodine rec –> excess Ca –> excess ATP consumption to try to push it back into SR –> fever
  • AD
  • hyperK, myoglobin, CK 2/2 rhabdo
  • dantroline

Random Triads and Stuff (2 decks)

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