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

AR Renal Tubular Defect Reabsorptive defect in thick ascending loop b/c mut NKCC S/S: - hypokalemia - hypercalciuria - metabolic acidosis

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)

- Endomyocardial fibrosis - Prominent eosinophilic infiltrate A Cause of infiltrative/restrictive CM

Syndromes I Never Remember Flashcards by andre son

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

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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

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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

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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

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Bartter Syndrome

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

S/S:

hypokalemia
hypercalciuria
metabolic acidosis

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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

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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)

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Romano-Ward Syndrome

AD congenital long QT syndrome

Differentiated from Jervell and Lange-Nielsen Syndrome

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Jervell and Lange-Neilsen Syndrome

AR congenital long QT syndrome

also has associated sensorineural deafness

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Dressler Syndrome

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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Loffler Syndrome

Endomyocardial fibrosis
Prominent eosinophilic infiltrate

A Cause of infiltrative/restrictive CM

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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

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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

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Henoch Schonlein Purpura

Small vessel vasculitis with IgA deposition
often following URI

skin (palpable purpura)
joints (arthralgias0
GI (abd pain, melena)
IgA nephropathy

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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

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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

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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

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Buerger disease (Thromboangiitis obliterans)

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

claudication and gangrene
autoamputation of digits

Tx: smoking cessation

Polyarteritis Nodosa

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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

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large-vessel vasculitis affecting temporal artery branches

a/w polymyalgia rheumatica

can see focal granulomatous inflammation

Takayasu arteritis

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

Tx: CSs

Caplan Syndrome

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RA
Pneumoconioses
Intrapulmonary nodules

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

SVC Syndrome

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

Carcinoid syndrome

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Flushing
Diarrhea
Wheezing
HF
Bronchoconstriction

2/2 endogenous secretion of 5-HT and kallikrein

Dx: 24hr urine 5-HIAA levels

TX: octreotide

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

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

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)

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 1. inheritance 2. presentation

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

NF-1 1. inheritance 2. presentation

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

VHL 1. inheritance 2. presentation

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

Ataxia telengiectasia 1. inheritance 2. 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

1. 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

Syndromes I Never Remember Flashcards

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