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| 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 |
