Pathology Topic 5 Second Set Of Diseases

Front 1

what are the lysosomal storage diseases

Back 1

•Glycogenosis –Type II, Pompe Disease
•Tay Sachs Disease
•Gaucher Disease
•Neimann Pick Disease
•Mucopolysaccharidosis
–MPS I -Hurler Syndrome

Front 2

what is the mucopolysaccharidoses that we need to know

Back 2

•Mucopolysaccharidosis
–MPS I -Hurler Syndrome
types I, II, III, IV, VI, VII

Front 3

what goes wrong in mucopolysaccharidoses

Back 3

Deficient enzyme needed for degradation of glycosaminoglycans (dermatan sulfate, heparan sulfate, keratan sulfate, chondroitin sulfate)

Front 4

what is the time course of the mucopolysaccharidoses symptoms

Back 4

clinically progressive MR and dysostosis multiplex (skeletal and joint dysplasia)

Front 5

what are the clinical features of mucopolysaccharidosis

Back 5

•Coarse facial features
•Clouded cornea
•Skeletal and joint dysplasia (dysostosis multiplex)
•Hepatosplenomegaly
•Cardiac valve sclerosis and subendothelial coronary artery deposits
•Mental retardation

Front 6

what are the features of Pompe Disease, aka.

Back 6

glycogenosis Type II, Pompe disease.
Glucosidase deficiency
•Lysosomes store glycogen
•Cardiomegaly
•Hepatomegaly
•Death in infancy or childhood

Front 7

features of Gaucher Disease - enzyme wise

Back 7

MOST Common LSD
•Glucocerebrosidase deficiency
•Glucocerebrosidase cleaves glucose residue from ceramide
•Accumulate glucocerebrosidein fixed tissue macrophage system
•Distended cells called Gaucher Cells

Front 8

clinical features of Gaucher Disease

Back 8

•Hepatosplenomegaly, pancytopenia due to hypersplenism
•Gaucher cells in spleen, liver, marrow, nodes, lungs
–Large cells with WRINKLED TISSUE PAPER CYTOPLASM
•Enzyme replacement treats

Front 9

what is another name for Tay-Sachs Disease

Back 9

Gm2 Gangliosidosis

Front 10

what is enzyme deficiency in Tay-Sachs

Back 10

•Deficiency of hexosaminidase A
•Accumulation of GM2 Gangliosides (Glucocerebroside and sphingomyelin)

Front 11

clinical picture of Tay-Sachs

Back 11

•Severe brain involvement
–Progressive mental, motor deterioration, ataxia, blindness, dementia, death by 3 yo
•Cherry-red spot

Front 12

what is the enzyme deficiency in Niemann-Pick Disease

Back 12

Sphingomyelinase deficiency

Front 13

what is the clinical picture of Niemann-Pick Disease

Back 13

•Accumulation of sphingomyelin “zebra bodies” in fixed tissue macrophages, neurons
•Organs most affected: brain, spleen, liver, bone marrow, lymph nodes,lungs
•Cherry red spot in 1/3
•Severe infantile form
–Massive HSM, failure to thrive, psychomotor deterioration
•Whorled and zebra body storage in brain, spleen, liver, nodes, marrow and lungs

Front 14

what are the two lysosomal storage diseases common in Ashkenazi Jews

Back 14

Tay-Sachs disease and Niemann-Pick Disease

Front 15

what is wrong in cystic fibrosis

Back 15

wide-spread defect in secretion in exocrine glands, epithelium of respiratory, GI, reproductive tracts

Front 16

what is the gene deficiency in Cystic Fibrosis

Back 16

CFTR gene mutation (on Chr 7q) make epithelial membranes relatively impermeable to Cl-ions,
–cAMP-dependent Cl-channels (encoded by CF transmembrane regulator (CFTR) gene) defective

Front 17

what is wrong in the lungs of kids with cystic fibrosis

Back 17

abnormal viscidity of airway secretions = airway obstruction = chronic bacterial infection = bronchiectasis, chronic bronchitis, abscess, pneumonia and respiratory failure (death is usually thru pulmonary disease)

Front 18

other than the lungs what else is wrong with cystic fibrosis patients

Back 18

•Chronic pancreatis (Pancreatic insufficiency, dilated ducts, exocrine atrophy, malabsorption, malnutrition)
–Abdominal distention
–Malnutrition: Poor weight gain
•Malnutrition: Biliary cirrhosis –bile inspissation
•Mucorium ileus: Intestinal obstruction
•Infertility: Absent vas, block epididymis, vas, azoospermia

Front 19

what are some multifactorial disorders and what is the inheritance pattern

Back 19

CL/CP, congenital heart malformation, pyloric stenosis, neural tube defect. one child = slightly higher risk of another child with it. two children = even higher risk.

Front 20

what are some clinical features of pyloric stenosis

Back 20

first-born boy with projectile vomiting. palpable olive. treat with pyloromyotomy

Front 21

small for gestational age aka

Back 21

fetal growth restriction

Front 22

what are some causes of small for gestational age

Back 22

•Fetal diseases
–Genetic abnormalities
–Congenital infection
–Congential malformation
•Utero-Placental insufficiency
–Previa
–Abruption
–Maternal illness

Front 23

what are some causes of symmetric growth restriction

Back 23

•Affects all organ systems equally
•Fetal causes (trisomy, infections, malformations)

Front 24

what are some causes of assymmetric growth retardation

Back 24

Maternal or placental causes

Front 25

what does it mean to assymmetric growth retardation

Back 25

brain spared relative to viscera

Front 26

what are some causes of LGA

Back 26

obese mother, diabetic mother

Front 27

what are some clinical features of LGA

Back 27

•Hypertrophy, hyperplasia of pancreatic islets, overgrowth of fetal adipose tissue, hypoglycemia
•Malformations (3x increased risk), fetal demise
•Increased risk of RDS (hyaline membrane disease), birth trauma

Front 28

what are some causes of prematurity

Back 28

•Chorioamnionitis
•Premature rupture of membranes
•Abruption
•Uterine abnormalities
•Multiple gestation
•Fetal infection

Front 29

what are some complications of prematurity

Back 29

•Immature Lungs –Hyaline Membrane Disease
•Immature Brain –Germinal matrix, intraventricular hemorrhage
•Immature Gut –Necrotizing Enterocolitis

Front 30

what are some features of hyaline membrane disease

Back 30

•Clinical: Premature, respiratory distress, retraction, cyanosis, ground glass chest x-ray
•Incidence inversely proportional to gestational age
–60% of <28 wk gestation, 5% of >37wk gestation

Front 31

what are hyaline membranes formed from

Back 31

fibrin, cell debris

Front 32

what are some things that decrease surfactant

Back 32

prematurity, insulin

Front 33

what are some things that increase surfactant

Back 33

steroids, thyroxine, labor, fetal stress

Front 34

what is intraventricular hemorrhage caused by

Back 34

happens less than 30 weeks of gestation. Due to high germinal matrix blood flow, high metabolic activity, fragile vessels, poor cerebral blood vessel autoregulation, hypoxia, endothelial damage, increased venous pressure

Front 35

necrotizing enterocolitis

Back 35

•Distal small bowel and colon
–Terminal ileum, cecum and right colon
•Distended bowel
•Mucosal or full thickness ischemic necrosis
•Pneumatosis intestinalis (Xray sign: The literal meaning is gas in the bowel wall, as opposed to in the lumen which is normal.)