Syndromes I Never Remember Flashcards
Alport Syndrome
Dominant X-linked Hereditary syndrome affecting:
- Kidneys (GN and ESRD), 2. Ears (sensorineural deafness)
- 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
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
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
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
Bartter Syndrome
AR Renal Tubular Defect
Reabsorptive defect in thick ascending loop b/c mut NKCC
S/S:
- hypokalemia
- hypercalciuria
- metabolic acidosis
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
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)
Romano-Ward Syndrome
AD congenital long QT syndrome
Differentiated from Jervell and Lange-Nielsen Syndrome
Jervell and Lange-Neilsen Syndrome
AR congenital long QT syndrome
also has associated sensorineural deafness
Dressler Syndrome
Autoimmune manifestation that leads to fibrinous pericarditis
It is a complication of MI seen 2 weeks to several months after MI
Loffler Syndrome
- Endomyocardial fibrosis
- Prominent eosinophilic infiltrate
A Cause of infiltrative/restrictive CM
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
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
Henoch Schonlein Purpura
Small vessel vasculitis with IgA deposition
often following URI
- skin (palpable purpura)
- joints (arthralgias0
- GI (abd pain, melena)
- IgA nephropathy
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
Granulomatosis w/polyangiitis
aka Wegener Granulomatosis
small and medium vessel vasculitis
- Upper respiratory + Lower Respiratory + Renal
- focal necrotizing vasculitis
- necrotizing granuloma in lung and upper airway
- necrotizing glomerulonephritis
Labs: c-ANCA/PR3-ANCA (antiproteinase 3)
Tx: cyclophosphamide and CS’s
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
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
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
Temporal (giant cell) arteritis
large-vessel vasculitis affecting temporal artery branches
a/w polymyalgia rheumatica
can see focal granulomatous inflammation
Takayasu arteritis
large vessel vasculitis causing granulomatous thickening and narrowing of aorta and proximal great vessels
Tx: CSs
Caplan Syndrome
- RA
- Pneumoconioses
- Intrapulmonary nodules
A risk of pnuemoconioses (coal workers, silicosis, asbestosis)
SVC Syndrome
- edema of face and arms
- swollen collateral veins of chest
- SOB and cough
- dysphagia
- stridor
- h/a
Carcinoid syndrome
- Flushing
- Diarrhea
- Wheezing
- HF
- Bronchoconstriction
2/2 endogenous secretion of 5-HT and kallikrein
Dx: 24hr urine 5-HIAA levels
TX: octreotide
Serotonin Syndrome
- Cognitive
- h/a, agitation, hypomania, confusion, hallcuinations, coma - Autonomic
- shivering, sweating, hyperthermia, vasoconstriction, tachycardia, nausea, diarrhea - Somatic
- myoclonus, hyperreflexia, tremor
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:
- bradykinesia
- muscle rigidity
- leukopenia
Common drug interactions for Serotonin Sydrome
- antidepressants (SSRI, SNRI, MAOI, TCA)
- tramadol (analgesic)
- 5-HT3 R antagonist ondansetron (anti-emetic)
- linezolid (abx)
- triptan (neuropsych)
Ortner syndrome
MVS –> LA dilatation –> left recurrent laryngeal impingement –> hoarseness
approved carrier proteins for vaccinations (3)
1) diphtheria toxin
2) neisseria meningitidis outer MB protein complex
3) tetanus toxoid
McCune Albright Syndrome
Mosaicism
- unilateral cafe au lait spots
- d/o of bone
- skin pigmentation
- hormonal problems
- premature puberty
Mitochondrial encephalomyopathy
Inheritance and s/s’s
Heteroplasmy
- neuromuscular lesions
- ragged red skeletal muscle fibers
- lactic acidosis
Hemolytic uremic syndrome
1) triad
2) a/w what organism
triad
1) microangiopathic hemolytic anemia
2) acute renal failure
3) thrombocytopenia
shiga-toxin producing ones: EHEC, Shigella
Tuberous Sclerosis
- inheritance
- presentation
- AD
- angiomyolipomas (bilateral renal) + coritcal tubers + subependymal hamartomas + sz/mr + cardiac rhabdomyomas + facial angiofibromas + ash-leaf patches
NF-1
- inheritance
- presentation
- AD
2. optic gliomas, Lisch nodules (pigmented nodules of iris) + neurfibromas (plexiform and solitary)
VHL
- inheritance
- presentation
- AD
2. cerebellar hemangioblastomas, retinal hemangiomas, liver cysts, b/l RCC
Ataxia telengiectasia
- inheritance
- presentation
AR
Cerebellar atrophy
Severe immunodef –> repeated sinopulmonary inf’s
Increased risk of cancer 2/2 DNA repair def.
DNA hypersensitivity to ionizing radiation
Fanconi anemia
1. mutation in
- DNA sensitivity to cross-linking agents
WDHA syndrome
- caused by?
- sxs
- VIPoma -> excess loss of water, Na, K in stool
- Watery Diarrhea, Hypokalemia, Achlorhydria
Ankylosing spondylitis
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
Grave’s Disease
- mechanism
- presentation (4 things that are only in Graves)
- Anti-TSH-receptor
- exophthalmos, periorbital edema, eye-movement limitations, pretibial myxedema
Friedrich Ataxia
- inheritance
- what’s wrong
- sxs
- 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
Reye Syndrome
- presentation
- a/w what
- what age group at risk
- hepatic dysfunction + encephalopathy
- aspirin (salicylic acid)
- 5-14yo
Malignant hyperthermia
- occurs after what
- mechanism
- inheritance of susceptbility
- lab findings
- tx
- 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
