Path Genetic Diseases

Front 1

What is the genetic defect in cystic fibrosis?

Back 1

Autosomal-recessive defect in CFTR gene on chromosome 7

Front 2

What is the molecular defect in CF?

Back 2

Defective Cl- channel

Front 3

What are the consequences of the defect in CF?

Back 3

The defective chloride channel causes secretion of abnormally thick mucus that plugs lungs, pancreas and liver, which leads to recurrent pulmonary infections (pseudomonas species and S. aureus), chronic bronchitis, bronchiectasis, pancreatic insufficiency (malabsorption and steatorrhea), meconium ileus in newborns.

Front 4

Name a diagnostic test for CF.

Back 4

Increased concentration of Cl- ions in sweat test.

Front 5

Why does CF cause infertility in males?

Back 5

Absent vas deferens.

Front 6

What vitamins are often deficient in CF?

Back 6

Fat-soluble - A,D,E,K

Front 7

Name an epidemiologic characteristic of CF.

Back 7

Most common lethal genetic disease of Caucasians.

Front 8

What is the treatment for CF?

Back 8

N-acetylcysteine to loosen mucous plugs.

Front 9

A patient presents with flank pain, hematuria, hypertension, progressive renal failure and has a mutation in one of his copies of APKD1 (chromosome 16); what is the diagnosis?

Back 9

Adult polycystic kidney disease. N.B. the juvenile form is recessive.

Front 10

Name 2 other characteristics of adult polycystic kidney disease.

Back 10

(1) always bilateral, (2) massive enlargement of the kidneys due to multiple large cysts.

Front 11

What sequelae are associated with adult polycystic kidney disease?

Back 11

(1) polycystic liver disease (2) berry aneurysms (3) mitral valve prolapse

Front 12

What disease involves elevated LDL owing to defective or absent LDL receptor?

Back 12

Familial hypercholesterolemia (type IIA)

Front 13

What are the average cholesterol levels in heterozygotes and homozygotes with familial hypercholesterolemia (tyype IIA)?

Back 13

heterozygotes (1:500) - 300 mg/dL homozygotes - 700+ mg/dL

Front 14

What are 3 sequelae of familial hypercholesterolemia (type IIA)?

Back 14

(1) severe atherosclerotic disease early in life (2) tendon xanthomas (classically in the Achilles tendon) (3) MI may develop before age 20

Front 15

What is the genetic defect in Marfan's syndrome?

Back 15

Fibrillin gene mutation leads to connective tissue disorders.

Front 16

What are the skeletal abnormalities in Marfan's?

Back 16

tall with long exteremities, hyperextensive joints, and long, tapering fingers and toes.

Front 17

What are the cardiovascular risks in Marfan's?

Back 17

cystic medial necrosis of aorta leads to aortic incompetence and dissecting aortic aneurysms; floppy mitral valve.

Front 18

What are the ocular risks in Marfan's?

Back 18

Subluxation of lenses.

Front 19

What is another name for Neurofibromatosis type 1?

Back 19

von Recklinghausen's disease

Front 20

What chromosome is affected in NF type 1?

Back 20

Long arm of chromosome 17 (17 letters in von Recklinghasen's)

Front 21

What are 5 classic characteristics of people with NF type 1?

Back 21

(1) café-au-lait spots (2) neural tumors (3) Lisch nodules (pigmented iris hamartomas) (4) skeletal disorders (e.g., scoliosis) (5) Increased tumor susceptibility

Front 22

What disease is associated with bilateral acoustic neuroma?

Back 22

Neurofibromatosis type 2

Front 23

What gene is affected in neurofibromatosis type 2?

Back 23

NF2 gene on chromosome 22; (type 2 = 22)

Front 24

What is the genetic mutation in Von-Hippel-Lindau disease?

Back 24

Deletion of VHL gene (tumor suppressor) on chromosome 3p. (Von Hippel-Lindau = 3 words for chromosome 3)

Front 25

What are the clinical findings in Von-Hippel-Lindau disease?

Back 25

hemiangioblastomas of retina/cerebellum/medulla; about half of affected individuals develop multiple bilateral renal cell carcinomas and other tumors.

Front 26

What is the diagnosis in a 20-50 year old person who presents with depression, progressive dementia, choreiform movements, caudate atrophy, and decreased levels of GABA and Ach in the brain?

Back 26

Huntington's disease

Front 27

What chromosome holds the gene involved in that disease?

Back 27

Chromosome 4; triplet repeat disorder ("Hunting 4 food")

Front 28

What disease is responsible for a colon that ecomes covered with adenomatous polyps after puberty?

Back 28

Familial adenomatous polyposis (FAP)

Front 29

What is the progression in that disease if colon not resected?

Back 29

Colon cancer

Front 30

What is the genetic defect in this disease?

Back 30

deletion on chromosome 5 - 5 letters in polyp

Front 31

What are 3 characteristics of hereditary spherocytosis?

Back 31

(1) spheroid erythrocytes (2) hemolytic anemia (3) increased MCHC

Front 32

What is the cure for hereditary spherocytosis?

Back 32

splenectomy

Front 33

What is the genetic defect in achondroplasia?

Back 33

Autosomal dominant cell-signaling defect of fibroblast growth factor (FGF) receptor 3.

Front 34

What are the physical characteristics of achondroplasia?

Back 34

Dwarfism, short limbs, but head and trunk are normal size.

Front 35

Cystic fibrosis, AR or X linked?

Back 35

AR

Front 36

albinism, AR or X linked?

Back 36

AR

Front 37

Fragile X, AR or X linked?

Back 37

X-linked

Front 38

Duchenne's muscular dystrophy, AR or X linked?

Back 38

X-linked

Front 39

hemophilia A and B, AR or X linked?

Back 39

X-linked

Front 40

a1-antitrypsin deficiency, AR or X linked?

Back 40

AR

Front 41

Fabry's, AR or X linked?

Back 41

X-linked

Front 42

G6PD deficiency, AR or X linked?

Back 42

X-linked

Front 43

Hunter's syndrome, AR or X linked?

Back 43

X-linked

Front 44

Phenylketonuria (PKU), AR or X linked?

Back 44

AR

Front 45

thalassemias, AR or X linked?

Back 45

AR

Front 46

sickle cell anemias, AR or X linked?

Back 46

AR

Front 47

ocular albinism, AR or X linked?

Back 47

X-linked

Front 48

glycogen storage diseases, AR or X linked?

Back 48

AR

Front 49

mucopolysaccharidoses (except Hunter's), AR or X linked?

Back 49

AR

Front 50

sphingolipidoses (except Fabry's), AR or X linked?

Back 50

AR

Front 51

infant polycystic kidney, AR or X linked?

Back 51

AR

Front 52

Lesch-Nyhan syndrome, AR or X linked?

Back 52

X-linked

Front 53

Bruton's agammaglobulinemia, AR or X linked?

Back 53

X-linked

Front 54

hemochromatosis, AR or X linked?

Back 54

AR

Front 55

Wiskott-Aldrich syndrome, AR or X linked?

Back 55

X-linked

Front 56

What are femal carriers of x-linked recessive disorders rarely affected?

Back 56

Inactivation of X chromosomes in each cell