DMH 2

47 flashcards · Other · by Jared Blackwell

  1. Gaucher disease

    Most common lysosomal storage disease. Accumulation of glucocerebroside causing hepatosplenomegaly. Severe neurologic problems.

  2. Krabbe disease

    Accumulation of galactocerebroside can't make ceramide. Brain cell destruction. Irritability, limb stiffness, vomiting. Mental/motor deficits. Death before age 2. Loss of myelin affecting nerve signals.

  3. Krabbe disease Accumulation of galactocerebroside causing loss of myelin. Can't make ceramide.

  4. Metachromatic leukodystrophy

    Accumulation of galactocerebroside sulfate. Lack of myelin; Progressive destruction of white matter - leukodystrophy. Motor issues, Peripheral nephropathy, seizures, paralysis, blind, deaf, can't speak.

  5. Niemann-Pick A/B

    Accumulation of sphingomyelin causing no production of Ceramide (like Krabbe). Hepatosplenomegaly; jaundice and anemia. Cherry-red halo around macula. Ataxia, seizures, speech impediment, dysphagia. Foam cells seen histology. *Niemann Pick C is accumulation of cholesterol in endosome.

  6. Niemann-Pick A/B causes increased sphingomyelin causing ataxia, speech impediment, dysphagia. Red-Cherry halo around macula. Cloudy cornea. *Krabbe is increased galactocerebroside:sphingomyelin ratio.

  7. Farber disease

    Accumulation of ceramide. ceramide causes apoptosis of cells and inflammatory response. Decreased mental ability, dysphagia. Dermatitis, skeletal deformities, joint issues.

  8. Tach-sachs

    Defect in ALPHA subunit of hexoseaminidase A causing accumulation of ganglioside. Defect in the alpha subunit for Hex A; there is NO EFFECT ON GLOBOSIDE. "onion skin" lysosome on histology. Mutated ganglion cells. Cherry-red spot in macula and enlarged head.

  9. Sandhoff Disease

    Similar to Tay-Sachs but there is no alpha or beta hexoseaminidase. Accumulation of ganglioside AND globoside.

  10. What sphingolipid disease is X-linked?

    Fabry's Disease.

  11. Fabry's Disease

    X-linked, accumulation of glycosphingolipidid. Deficient alpha-galatcosidase. Burining skin, Angiokeramtoms. Hypohidrosis (decreased sweating). Hearing & Vision loss. Heart/kidney damage.

  12. Tangier Disease

    Defect in CERP and can't move cholesterol to LCAT for esterification and transport to liver. HDL extremly low or absent. Low apo A1. Orange tonsils, peripheral nephropathy, Hepatosplenomegaly.

  13. Carcinoid (neuroendocrine) tumor

    Intramural and submucosa masses. Often begin in small bowel, and metastasize to liver. Right-sided valvular heart lesions.

  14. What does congential extrahepatic biliary atresia cause?

    Increase in direct bilirubin.

  15. No chylomicrons with acanthocytes?

    Abetalipoproteininemia Defect in apoB48 and apoB100 or MTTP which transfers TGs into core of chylomicrons in VLDL. autosomal recessive.

  16. Symptoms of Biotin deficiency?

    Dermatitis, glossitis, nausea. No gluconeogensis High lactate and alanine Lactic acidosis. Avidin from eating too many egg whites.

  17. Hunter Syndrome

    X-linked recessive mucopolysaccharidoses. -Deficient iduronate sulfatase deficiency. -Accumulation of dermatan sulfate and heparin sulfate. NO corneal clouding. Aggressive, restlessness.

  18. Hurler Disease

    Autosomal recessive mucopolysaccharidoses. -Deficient in alpha iduronidase. -Increased dermatan sulfate and heparin sulfate. Hepatosplenomegaly. Children have developmental delay. Corneal Clouding. Airway obstruction.

  19. Azathioprin & 6-mercaptopurine

    Inhibits HGPRT; salvage pathway or purine. Degrades purines to uric acid.

  20. Overactive PRPP synthase defect?

    Gout severe defect in PRPP synthase results in Lesch-Nyhann syndrome. X-linked absence of HGPRT.

  21. IMP dehydrongenase inhibitors

    Mycophenolate & ribavirin (anti-viral). inihibit IMP to GMP. stops synthesis of purines.

  22. Orotic aciduria

    Autosomal recessive defect in UMP synthase. High levels of Orotic acid. megaloblastic anemia w/ NO response to vit.B12 or folate.

  23. Blocks dihydrofolate reductase

    Methotrexate interferes with Folate metabolism.

  24. Blocks thymidylate synthase

    5-Flurouracil

  25. Difference in vitamin b12 and folate deficiency?

    Only B12 deficient cause increase in MMA.

  26. What is rate-limiting enzyme for urea cycle?

    Carbamoyl Phosphate Synthetase I "go to CVS if having trouble peeing." CVS = CPS I

  27. Ornithidine Transcarboxylase Deficiency causes what?

    Increased Carbamoyl phosphate increased orotic acid increased ammonia Decreased citrulline Carbamoyl phosphate gets converted to orotic acid.

  28. How do you treat hyperammonemia?

    Lactulose which increases GI excretion via osmotic diarrhea. Rifaximin decreases colonic production by killing ammonia producing bacteria. Also may decrease dietary protein.

  29. Which enzymes need Thymine?

    Transketolase Pyruvate dehydrongenase a-KG dehydrongenase Branched-chain a-Ketoacid Dehydrongenase.

  30. What is Hartnup Disease?

    Autosomal recessive disease cannot resorb Tryptophan; can't make Niacin. Pellagra: Diarrhea, Dementia, Dermatitis. Ataxia. Treat with Nicotinic Acid; precursors to NAD+ & NADP+

  31. Is pancreatic adenocarcinoma of ductal or acinar lineage?

    Pancreatic adenocarcinoma is of ductal lineage.

  32. Iron Deficiency Anemia

    Low Ferritin High Transferrin MCH low Microcytic, Hypochromic. Associated with Plummer-Vinson Syndrome "When I Diarrhea, need Plummer" esophageal Webs Iron deficiency anemia Dysphagia.

  33. Hormones that recruit JAK-tyr kinase?

    GH, Prolactin, Leptin

  34. Hormones that decrease cAMP?

    alpha2-adrenergic, opioids, somatostatin.

  35. Hormones that use IP3/Ca2+ & DAG?

    Alpha1-adrenergic ADH, Angiotensin II CCK GnRH, oxytocin, TRH

  36. Hormones that use cGMP?

    Atrial natriuretic peptide (ANP). ANP goes to kidney & adrenal cortex to increase GFR and decrease aldosterone.

  37. What are the hormones release by anterior pituitary gland?

    GH LH FSH TSH ACTH Prolactin

  38. How do you treat Pheochromocytoma?

    First use alpha-1 antagonist (phenoxybenzamine) to dilate blood vessels and increase blood flow. Then use a B-blocker like propranolol to decrease HR. Secretes NE, EPI, DA. Increased urinary excretion of VMA and HVA from EPI/NE and Dopamine degradation respectively.

  39. Primary vs. secondary parathryoidism?

    Primary has high calcium & low phosphorus. Secondary caused by vitamin D deficiency or renal failure. Low calcium HIGH phosphorus. **hypocalcemia and hyperphosphatemia also seen in pseudohypoparathyroidism (no response to PTH).

  40. What stimulates or inhibits growth hormone?

    Stimuli: Sleep Exercise Stress Inhiibition: Hyperglycemia Elevated FFA

  41. Causes of hypercalemia?

    CHIMPS Cancer Hyperparathyroidsim Intoxication Vit. D. Milk-alkali Syndrome (antacids). Paget's Disease Sarcoidosis.

  42. Primary hyperparathyroidism loss of bone trabeculae. Osteitis fibrosa cystica = bone fibrosis, cysts; “brown tumors" are black spaces on x-ray. Bone resoprtion in subperiosteal. high calcium and low phosphate. "Stones, bones, groans, psychiatric overtones." Kidney stones. Bone pain. Groans= Constipation, recurrent peptic ulcers, nausea. Anxiety, altered mental status.

  43. How does calcium and magnesium affect EKGs?

    Low calcium/magnesium cause prolonged QT interval. Hypercalcemia causes short QT interval.

  44. What are PTH effects?

    PTH increases calcium absorption in DCT kidney. Decreases Phosphate absorption in PCT and increases vitamin D in PCT kidney. Increases calcium & phosphate resorption in bone.

  45. Symptoms of hypocalcemia?

    Nerve tingling of fingers, toes, around mouth. Intermittent muscle spasms (Tetany).

  46. Child with hypocalcemia, recurrent infections, congenital heart defects?

    DiGeorge Syndrome - failure of 3rd/4th pharygneal pouch to form. Deletion of 22q11.2

  47. MEN I syndrome

    Autosomal dominant mutation in 11q13 coding for menin. 3 P's Parathyroid adenoma Pituitary adenoma - prolactinoma, GH secreting tumor. Pancreatic tumors