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41 Cards in this Set
- Front
- Back
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McArdle
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glycogen storage disease
muscle |
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von Gierke
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glycogen storage disease
liver and kidneys |
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Wilson
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Copper metabolism #
liver and brain |
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Galactosemia
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galactose metabolism #
liver, lens, brain |
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Turcot
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CNS: gliomas
GI tract: adenomas |
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Caroli
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congenital malformation bile ducts
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May-White
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familial progressive myoclonus epilepsy with lipomas, deafness, ataxia
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Crigler-Najjar
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Unconjugated bili- severe
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Gilbert
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Unconjugated bili- mild
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Dubin-Johnson
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conjugated bili- mild
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Rotor
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conjugated bili- mild
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Sturge-weber
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leptomeningial angiomatosis, port-wine stain, mental retardation, seizures, hemiplegia
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Von hippel lindau
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capillary hemangioblastoma
retinal angiomas renal ca cysts or ang# any organ |
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Gardner
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fam. colon ca, and osteomas, epidermal cysts, fibromatosis, abnormal teeth, thyroid ca, duodenal ca, pigmented ocular fundus, desmoid tumors
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Menkes
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copper deficiency -> #collagen crosslinking -> depigmented lusterless hair, facial/ocular/vascular/cerebral #
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Milroy
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congenital lymphatic malformation / lymphedema
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Wermer
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MEN 1
parathyroid (hypercalcemia, kidney stones) pituitary pancreas (ulcers) |
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Sipple
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MEN 2a
pheochromo parathyroid thyroid |
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shy-drager
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ANS failure -> orthostatic hypotension and parkinsonism
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Budd-Chiari
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IVC or hepatic vein occlusion (caused by malignancy or congenital IVC webs)
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Bloom's
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auto rec = small body size, immunodeficiency, light-sensitive facial erythema, predisp cancer
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Rett
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only females, severe impairment, characteristic hand wringing movements
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Churg-Strauss
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allergic granulomatosis and angiitis -> asthma and eosinophilia and vasculitis
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Reye
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postviral/aspirin -> enlarged distorted mitochrondria -> esp. liver (disruption biochemical pathways -> microvesicular steatosis), brain (edema). 75% mild, 25% coma, liver failure or cns#, incr ammonia
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Wiskott-Aldrich
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thrombocytopenia, eczema, recurrent sinopulmonary infections
low IgM, high IgE, IgG, IgA, defective response to polysaccharide antigens (defect T cells prevents binding to B cells) 12% chance of non-hodgkin lymphoma! |
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Chediak-Higashi
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no lysosomal enzymes in phagosomes -> giant inclusions -> infections (neutropenia), albinism, nerve deficits, bleeding diathesis
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Tuberous sclerosis
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MR, seizures, hypopigment (!!), angiofibromata (adenoma sebaceum), large cortical hamartomas, renal angiomyolipomas, cardial rhabdomyomas
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de Quervain
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postviral destruction thyroid causing hyper than hypo
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Nelson
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extreme hyperpigmentation after adrenalectomy
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Eisenmenger
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shift from L-R shunt to R-L dus to pulm HT
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Dressler's
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complication MI -> autoimmune fibrinous pericarditis with fever and peripleural chest pain (several weeks after MI)
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Peutz-jeghers
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polyps (complex branching pattern, benign), melanin spots and incr risk breast/pancreas/overy/uterus/lung ca
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Potter
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bilateral renal agenesis -> oligohydramnios
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Lesch-Nyhan
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purine metabolism# (no HGPRT)
aggressive, self-mutilation, gout, gouty nephropathy, yellow-orange crystals of uric acid in diaper |
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maple syrup disease
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branched chain amino acid #
motor abnormalities and seizures |
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phenylketonuria
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aromatic amino acid metabolism #
mental retardation |
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orotic aciduria
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pyrimidine metabolism #
retarder growtha nd development and megaloblastic anemia |
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homocystinuria
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sulfur containing amino acid #
mental retardation, dislocation of lenses, osteoporosis, thrombosis |
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Binswanger
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subcortical leukencephalopathy
Diffuse loss of deep white matter - ass hypertension |
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Albinism
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copper-dependent tyrosinase deficiency -> block production melanin from aromatic amino acid tyrosine
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Pickwickian syndrome
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= obesity hypoventilation syndrome
obesity and sleep apnea |
