Difficult DISEASES Flashcards
You don't usually remember
Liddle disease
gain of function mutation in Enac; defective Nedd 4 protein that degrades the channel; excess acrivation of Enac & Na absorption; hypokalemia & hypertension
Von Hippel Lindau
Pheochromocytoma; CNS hemangioblastoma; Renal Cell Ca
osteogenesis imperfecta
type 1 collagen, blue scerae, multiple fx, deafness
Hereditary hemorrhagic Telengiactasia
spontaneous recurrent epistaxis, mucocutaneous telenguectasia, internal visceral AVMs, 1st degree relatives diagnosed with HHT
Wiskott- aldrich
Thrombocytopenia, defect in cellular and humoral immunity, eczema of the skin; X- linked recessive
Neurofibromatosis
autosomal dominant; bilateral acoustic neuromas- tinnitus, hearing loss, bilateral ear pain
Plummer Vinson syndrome
iron deficiency anemia, esophageal web, swollen and beefy tongue
Paget Disease
uncontrolled bone resorption; weak bone with cement line; elevated urinary hydroxyproline and TRAP (inc. osteoclastic activity); inc. osteoblast after osteoclast exhaustion; bowing of the leg & radiolucency of bone, enlargement of the skull, dec. hearing acuity
Pseudotumor Cerebri
idiopathic benign intracranial hypertension.
Hyper IgE syndrome
Cold abscess, recurrent infection, course facial features, peculiar set of teeth, STAT 3
Granulomatosis with polyangiitis
c- ANCA nasopharyngeal involvement (epistaxis and nasal crusting), necrotizing vasculitis, necrotizing granulomas in the lungs, necrotizing glomerulonephritis
HLA DR3
Hyperthyroidism
anti Jo - 1
Polymyositis; dermamyositis
hereditary angioedema
depressed levels of C4 in the blood; no response to epinephrine and antihistamines; swelling of the mucosal surfaces (lips & tongue) and vomiting; auttosomal dominant
dihydrorhodamine 123 assay
Chronic granulomatous disease, catalase (+) (listeria, e. coli, staph aureus)
