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ABIM - Diseases

Diseases 01

QuestionAnswer
Patient with swelling of face and oropharynx, familial in autosomal dominant inheritance pattern hereditary angioedema. Deficiency of C1 esterase inhibitor (complement deficiency) --> overactive complement classical pathway (nothing to break down C1 and inhibit the pathway) --> uses up C4 and C2 --> increased C3 breakdown --> increased anaphylatoxic
C6-C9 complement deficiency (MAC deficiency) increased susceptibility to Neisseria infections
C2 complement deficiency associated with septicemia (Strep pneumo), SLE-like syndrome in children
Defect in molecule anchoring decay accelerating factor (DAF) in complement system DAF normally degrades C3 and C5 convertase on hematopoietic cell membrances. No DAF --> overactive complement system (alternative and classical pathways) --> complement-mediated lysis of RBC's, platelets, and neutrophils --> paraoxysmal nocturnal hemoglo
If you have a decrease in C4 or C2 in your serum, what pathway have you activated? Classical is active
If you have a decrease in factor B in your serum, what pathway have you activated? Alternative is active
If you have a decrease in C3 in your serum, what pathway have you activated? EITHER classical or alternative is active
liver transplant patient with jaundice, bloody diarrhea and dermatitis graft v host reaction (donor T cells recognize host tissue as foreign and activate host CD4 and CD8 T cells and kills host tissue)
scars and 3rd degree burns associated with what disease? squamous cell carcinoma (inc cell division)
neurons in layers 3,5,6 destroyed in cerebral cortex Alzheimers
What kind of mutation in sickle cell disease? missense mutation -- adenine replaces thymidine --> valine replaces glutamic acid in B-globin chain
What kind of mutation in B-thalassemia major? nonsense mutation --> stop codon --> termination of B-globin chain --> decrease in synthesis of Hb A --> microcytic anemia
Inheritance pattern of thalassemia? autosomal recessive
What kind of mutation in Tay-Sachs? frameshift --> synthesis of a defective lysosomal enzyme (hexosaminidase)
What kind of mutation in fragile X syndrome? trinucleotide repeats. Causes MR (50% of female carriers develop MR, 100% of males get MR because only 1 X chromosome)
What kind of mutation in Huntington's disease? trinucleotide repeats
What kind of mutation in diseases associated with anticipation? Anticipation = increasing severity of clinical disease with each successive generation. Trinucleotide repeats.
What is the interitance pattern of CF? autosomal recessive
PKU deficiency of phenylalanine hydroxylase; unused phenyalanine --> phenylketones and acids --> neurotoxic --> mental retardation
Which compounds will you see increased and decreased in PKU? increased phenylalanine (substrate that isn't broken down), decreased tyrosine (product of the blocked reaction)
What should you avoid in the diet of someone with PKU? Foods containing phenylalanine and artificial sweeteners that contain phenylalanine.
What disease has urine with a musty odor? PKU
What disease has black urine and cartilage? Alkaptonuria (homogentisate oxidase deficiency) --> build up of homogentisate --> deposits in intervertebral discs --> osteoarthritis. El Captain (who is a homo) says, "aye, matey - I've got black urine and black knees (cartilage). What of it??"
What disease has sweet-smelling urine? Maple syrup urine disease. Deficiency of branched-chain ketoacid dehydrogenase. Can't break down leucine, valine, and isoleucine --> ketoacids of these aa's build up --> MR, seizures, feeding problems
What is the disease that has port-wine color urine? Acute Intermittent Porphyria: autosomal dominant, deficiency of uroporphyrinogen-1 synthase --> can't make heme. Abdominal pain, neuropathy, anxiety/paranoia/depression. Color of urine due to excretion of δ-aminolevulinic and porphobilinogen, which buil
Von Gierke's disease glucose-6-Pase deficiency --> can't break down G-6-P --> can't break down glycogen into glucose
McArdle's disease McArdle's disease (deficient in muscle phosphorylase --> muscle can't turn glycogen into glucose --> glycogen buildup). During exercise, no glucose for anaerobic glycolysis --> no lactic acid buildup. Constant muscle fatigue. Autosomal recessive.
Pompe's Deficiency of a lysosomal enzyme that breaks down glycogen (lysosomal α 1,4 glucosidase) --> build up of glycogen --> cardiomegaly with early death
debranching enzyme deficiency Deficiency in α 1,6 glucosidase. Inhibition of glycogenolysis (breaking down glycogen) --> abnormally high levels of normal glycogen
what is the most common autosomal recessive disorder? Hemochromatosis
What is the most common autosomal dominant disorder? von Willebrand disease - defect in platelet adhesion and coagulation factors --> increase in PTT (nl PT) --> easier bleeding in these people
Inheritance pattern of a1-antitrypsin deficiency autosomal recessive
Inheritance pattern of Huntington's disease? autosomal dominant, trinucleotide repeats, loss of striatal neurons, atrophy of caudate nucleus --> chorea, muscle rigidity, dementia
Inheritance pattern of 21-hydroxylase deficiency autosomal recessive - decreased cortisol and aldosterone (mineralocorticoids)
Inheritance pattern of osteogenesis imperfecta autosomal dominant - "brittle bone" disease. Defective synthesis of type 1 collagen --> pathologic fractures at birth, blue sclera, deafness.
Inheritance pattern of achondroplasia autosomal dominant - impaired proliferation of cartilage at growth plate --> nl head and vertebral column, shortened arms and legs (nl growth hormone and insulin growth factor 1)
Inheritance pattern of chronic granulomatous disease X-linked recessive
Inheritance pattern of Bruton's agammaglobulinemia? X-linked recessive. Bruton's agammaglobulinemia, mutation in Btk gene, failure of pre-B cells to become mature B cells (B-cell maturation stops after the rearrangement of heavy chain genes) --> B cell levels in bloodstream and lymphoid organs are decreas
Inheritance pattern of Alport's syndrome? X-linked dominant. Glomerulonephritis (defect of type IV collagen in the GBM) with nerve deafness.
In what disease should you avoid dairy products? Galactosemia (deficiency in GALT, which breaks down galactose-1-P)
In what disease should you avoid honey? Hereditary fructose intolerance. Should avoid fructose and sucrose as well. Deficiency in aldolase B, which breaks down fructose-1-P
In what disease do you have no increase in lactic acid with exercise? McArdle's disease (deficient in muscle phosphorylase --> muscle can't turn glycogen into glucose --> glycogen buildup). During exercise, no glucose for anaerobic glycolysis --> no lactic acid buildup. Constant muscle fatigue. Autosomal recessive.
In what disease do you have no increase in glucose with a glucagon challenge? Von Gierke's -- can't break down glycogen because have G-6-Pase deficiency (buildup of G-6-P)
In what disease do you see a long face, large mandible, and everted ears? Fragile X. X-linked recessive.
In what disease do you see enlarged testes at puberty? Fragile X. X-linked recessive.
In what disease do you have MR and a cat-like cry? Cri du chat -- loss of short arm of chromosome 5 (deletion). Have ventricular septal defect as well.
In what disease do you have MR, short stature, obesity, hypotonia, and hypogonadism? Prader Willi (nonimprinted gene on chromosome 15 from father gets knocked out)
In what disease do you have MR, wide-based gait (looks like a puppet walking), and inappropriate laughter? Angelman ("happy puppet" syndrome) -- nonimprinted gene on chromosome 15 from mother gets knocked out
In what disease do you see self-mutilation? Lesch-Nyhan syndrome: deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) --> MR and hyperurecemia. X-linked recessive.
In what disease do you see night blindness? Vit A deficiency (need vit A for the production of rhodopsin)
In what disease do you see neonate with clenched hands, overlapping fingers and a VSD? Edwards' (trisomy 18). Major causes of death include apnea and heart abnormalities.
In what disease do you see cleft lip/palate and polydactyly? Patau's (trisomy 13)
In what disease do you see short stature and webbed neck? Turner's. Lymphedema of hands and feet (defective lymphatics), webbed neck also due to lymphadenopathy
In what disease do you see a horseshoe kidney and hypothyroidism? Turner's
In what disease do you see very long legs in person with female secondary sex characteristics? Klinefelter's Syndrome. XXY.
In what disease do you see flat facial features, underdevelopment of chest wall, and clubfeet? Oligohydramios. Decreased production of fetal urine --> restriction of fetal movement.
In what disease do you see seal-like limbs? Malformations due to maternal intake of thalidomide.
In what disease do you see dactylitis (sausage fingers) in children 6 to 9 months old? Sickle cell anemia
In what disease do you see dactylitis (sausage fingers) in adults? 1. TB, 2. Leprosy, 3. psoriatic arthritis and 4. ankylosing spondylitis
In what disease do you see cherry red macula? Tay Sachs Disease (GM2 gangliosides)
In what disease do you see eroded teeth enamel? Bulemia nervosa
In what disease do you see white spots on eye? Vitamin A deficiency --> white spots on eye
Created by: christinapham