Path Week 5: Autosomal Recessive And Aging

Front 1

What are some classical clinical presentations of a lysosomal storage disease

Back 1

Hepatosplenomegaly
CNS disfunction
Bone Dysplasia
Death in childhood

Front 2

Mucopolysaccharidosis (cause, symptoms)

Back 2

Lysosomal storage disease caused by deficiency in enzyme which breaks down glycosaminoglycans (GAGs) of ECM.
Clinical Presentation: Progressive, coarse facial features, clouding of cornea, bone and joint probs known as dysostosis multiplex, hepatosplenomegaly, short stature, cardiac valve sclerosis, and mental retardation.
Hurler and Hunter most common types. All AR except type 2 = Hunter syndrome is X linked.

Front 3

Glycogenosis type 2 (cause, symptoms)

Back 3

(Pompe disease) Lysosomal storage disease caused by deficiency in glucosidase, leads to accumulation of glycogen. Get buildup in skel and cardiac muscle and liver.
Clinical pres: Cardiomegaly, hypotonia, hepatomegaly.

Front 4

Gaucher Disease (cause, symptoms)

Back 4

Lysosomal storage disease caused by glucocerebrosidase deficiency causing accumulation of glucocerebroside in Macs called Gaucher cells.
Clin Pres: Hepatosplenomegaly, pancytopenia due to hypersplenism and replacement of BM with gaucher cells. Problem caused by both accumulation and mac activation.

Front 5

GM1 Gangliosidosis (cause, symptoms)

Back 5

Lysosomal storage disease caused by ganglioside B galactosidase deficiency causing accumulation of galactose containing oligosaccharides.

Front 6

GM2 Gangliosidosis (cause, symptoms)

Back 6

(Tay sachs disease) Lysosomal storage disease due to hexosaminidase deficiency causing ganglioside accumulation (glucocerebroside and sphingomyelin). Common in A jews.
Clin pres: Cherry red spot on retina, severe progressive CNS probs, blindness, dementia, death by age 3.

Front 7

Niemann-pick disease (cause, symptoms)

Back 7

Lysosomal storage disease caused by sphingomyelinase deficiency leading to accumulation of sphingomyelin "zebra bodies" in macs and neurons. Common in A jews.
Clin pres: Effects brain, spleen liver, BM, nodes, lungs, and can have cherry red spot on retina. Can be fatal in infancy.

Front 8

Cystic fibrosis cause

Back 8

AR found in whites, most common lethal white disease. Caused by mutation on gene 7q (CFTR gene) encoding for part of chloride channels. Make epithelial impermiable to Cl ions.

Front 9

Cystic fibrosis pathology

Back 9

Lung - Infections (staph, pseudomonas, influenza, burkholderia cepacia), bronchitis, bronchiectasis, mucus plugs.
Pancreas - Pancreatic insufficiency, dilation of ducts, atrophy of exocrine glands.
GI - Malabsorbtion/nutrition, foul smelling stools, meconium ileus in infants due to impacted viscid mucin.
Liver - hepatic cirrhosis, billiary cirrhosis.
Genitals - can lead to male infertility.

Front 10

4 common examples of mulifactorial (polygenic) disorders

Back 10

Cleft lip/palate
Congenital heart disease
Pyloric stenosis
Neural Tube defects

Front 11

Pyloric stenosis

Back 11

Polygenic disease common in whites, found in first born boy who presents with projectile vomiting. Due to hypertrophy of pyloric muscles.

Front 12

Definition of symmetric SGA and examples

Back 12

SGA where head and abdomen are proportional.
Utero/placental:
-Umbilical placental insufficiency
-Placental previa
-Placental abruption
-Multiple gestation
Fetal Causes:
-Genetic abnormalities (trisomy, triploidy)
-Congenital infections
-Congenital malformations

Front 13

Definition of asymmetric SGA and examples

Back 13

SGA where head is normal but abdomen is small.
Maternal causes:
-Maternal vascular disease (hypertension, Toxemia)
-Maternal drug use

Front 14

LGA causes

Back 14

1) Maternal Obesity
2) Infant of diabetic mother

Front 15

Effect of diabetes on fetus

Back 15

Become LGA, get hyperinsulemia, macrosomia, organomegaly and increased body fat.
Also have increased hyaline membrane disease, hypertrophy and hyperplasia of Islets, and hypoglycemia after birth.
Can also have malformations like caudal regression sequence.

Front 16

When is a baby a preMe

Back 16

<37 weeks gestation

Front 17

Causes of PreMes

Back 17

-Chorioamniotesis
-Prematture rupture of membranes
-Uterine abnormalities
-Multiple gestation
-Fetal infection

Front 18

3 organs most effected by PreMe

Back 18

Lungs, Brain, Intestine

Front 19

Senescence

Back 19

Progressive decline in form and function that accompanies aging.

Front 20

Progeroid syndromes

Back 20

Syndromes where people age too fast.

Front 21

Werner syndrome

Back 21

Adult onset progeria. Peeps in 20s look like in 60s. Due to mutation of gene encoding for protein which repairs DNA damage.

Front 22

Hutchinson-Gilford Syndrome

Back 22

Early onset progeria. CNS is spared. Die before 20 with atherosclerosis. Caused by nenovo point mutation on chromosome 1 encoding for lamin A, a protein which gives structural support to the nucleus.

Front 23

What causes replicatvie senescence

Back 23

When the telomeres of chromosomes reach a certain length.

Front 24

Telomerase

Back 24

RNA protein responsible for de novo telomere production. Present in germ cells, GI mucosa, activated T cells, malignant tumors, and stem cells in a lesser degree.