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Flashcards in Syndromes I Never Remember Deck (43)
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1

Alport Syndrome

Dominant X-linked Hereditary syndrome affecting:
1. Kidneys (GN and ESRD), 2. Ears (sensorineural deafness)
3. 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

2

POTTER Syndrome

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

3

Fanconi Syndrome

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

4

Hartnup Disease

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

5

Bartter Syndrome

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

S/S:
- hypokalemia
- hypercalciuria
- metabolic acidosis

6

Gitelman Syndrome

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

S/S:
- Hypokalemia
- Metabolic acidosis
- NO hypercalciuria

7

Liddle Syndrome

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)

8

Romano-Ward Syndrome

AD congenital long QT syndrome

Differentiated from Jervell and Lange-Nielsen Syndrome

9

Jervell and Lange-Neilsen Syndrome

AR congenital long QT syndrome

also has associated sensorineural deafness

10

Dressler Syndrome

Autoimmune manifestation that leads to fibrinous pericarditis

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

11

Loffler Syndrome

- Endomyocardial fibrosis
- Prominent eosinophilic infiltrate

A Cause of infiltrative/restrictive CM

12

CREST syndrome

Connective tissue d/o that usu spares kidneys

Calcinosis
Raynaud's
Esophageal dysmotility
Sclerodactyly
Telangiectasia

Anti-centromere

a/w 10% primary biliary cirrhosis

13

Churg Strauss Syndrome

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

14

Henoch Schonlein Purpura

Small vessel vasculitis with IgA deposition
often following URI

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

15

Langerhans cell histiocytosis

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

16

Granulomatosis w/polyangiitis

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

17

Microscopic Polyangiitis

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

18

Buerger disease (Thromboangiitis obliterans)

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

- claudication and gangrene
- autoamputation of digits

Tx: smoking cessation

19

Polyarteritis Nodosa

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

Temporal (giant cell) arteritis

large-vessel vasculitis affecting temporal artery branches

a/w polymyalgia rheumatica

can see focal granulomatous inflammation

21

Takayasu arteritis

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

Tx: CSs

22

Caplan Syndrome

1. RA
2. Pneumoconioses
3. Intrapulmonary nodules

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

23

SVC Syndrome

- edema of face and arms
- swollen collateral veins of chest
- SOB and cough
- dysphagia
- stridor
- h/a

24

Carcinoid syndrome

-Flushing
- Diarrhea
- Wheezing
- HF
- Bronchoconstriction

2/2 endogenous secretion of 5-HT and kallikrein

Dx: 24hr urine 5-HIAA levels

TX: octreotide

25

Serotonin Syndrome

1. Cognitive
- h/a, agitation, hypomania, confusion, hallcuinations, coma

2. Autonomic
- shivering, sweating, hyperthermia, vasoconstriction, tachycardia, nausea, diarrhea

3. Somatic
- myoclonus, hyperreflexia, tremor

26

Neuroleptic malignant syndrome

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

Common drug interactions for Serotonin Sydrome

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

28

Ortner syndrome

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

29

approved carrier proteins for vaccinations (3)

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

30

McCune Albright Syndrome

Mosaicism

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