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12 Cards in this Set
- Front
- Back
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Autosomal Recessive Diseases
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metabolic diseases
parents usually normal affected individual can be of eitehr sex consanguity increases prevalence when condition is rare unusual to find other affected individuals in preceding or succeeding generations most mutated alleles lead to a complete or parital loss of function |
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Cystic Fibrosis
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Most common lethal AR disorder in caucasians
caused by defected chloride channel leading to thick mucus and inspissated secretions Clogged lungs, reproductive tract, sinuses, sweat glands, pancreas, liver |
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Cystic Fibrosis symptoms
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Purulent cough
hemoptysis recurrent sinusitis diarrhea steatorrhea malabsorption |
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Cystic Fibrosis signs
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clubbing
low weight gain nasal polyps failure to thrive- fall off growth chart |
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Cystic Fibrosis susceptibility
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Respiratory problems: pulmonary disease, chronic bronchitis, bronchiectasis, pseudomonas infections
Pancreatic problems: pancreatitis Liver Problems: secondary biliary cirrhosis GI tract problems: bowel obstruction Infertility |
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What is the gold standard for Cystic fibrosis diagnosis?
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Sweat chloride test- increased salt in sweat
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Cystic Fibrosis Treatment
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enzyme replacement
Chest physical therapy (percussion and drainage) Aerobic exercise Antibiotic treatment Double lung or heart transplant |
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Lysosomal Storage Disease
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Result from mutations in genes that encode lysosomal hydrolases and result in abnormal accumulation of products- becomes engorged and interferes w/ normal functioning
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Gaucher Disease
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Lysosomal Storage Disease
Accumulation of glucosylceramide in macrophages Leukocyte membrane metabolism leads to normally cerebrosides from cell membrane are metabolized by enzyme glucocerebrosidease Lipid Laden macrophages found in spleen liver, bone marrow, lymph nodes Hallmark of disorder are the presence of Gaucher cells, which have displaced nuclei 3 types: +/- neurological detoriation; different age of onset; different prognosis; different rarity |
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Tay-Sachs Disease
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Lysosomal Storage Disease
Metabolic disorder found in Ashkenazi Jews Mutation in HEXA gene, which codes for Beta-hexosaminidase A, which helps to degrade GM2 ganglioside Deficiency of lysosome leads to accumulation of GM2, which causes neural cell destruction in brain Lose motor skills Progressive weakness, hypotonia, decreased attentiveness Seizures, blindness, total incapacitation, death Cherry red spots in the macula of the eye |
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Phenylketonuria (PKU)
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Progressive mental deterioration in 1st few years of life (white/asian pop.)
Inherited error of metabolism caused by phenylalanin hydroxylase deficiency phenylalanine can't be converted to tyrosine leading to hyperphenylalaninemia and phenylketones Neurotoxicity loss of enzyme results in vomiting, irritability, rash, odor, mental retardation, organ damage, unusual posture Can be treated w/ diet by limiting phenylalanine intake |
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Albinism
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defect in melanin synthesis has been show to result in absence of activity of enzyme tyrosinase
**eye change is key to syndrome (nystamgus, iris tranlucency, reduction of visual acuity, decreased retinal pigment, foveal, hypoplasia, strabismus) Significant decrease in epidermal melanin, increases risk of developing UV induced malignancies (basal cell carcinonma, squamous cell carcinoma) |
