DISEASES FOR COMMITTEE 2

Question 1

What are the symptoms of cystic fibrosis?

Answer 1

 Chronic obstructive lung disease  Elevated sweat Na+ and Cl- concentration  Depletion of pancreatic enzymes  Malabsorption  Male urogenital abnormalities resulting in obstructive azoospermia

Question 2

What population has a high frequency of Cystic Fibrosis?

Answer 2

White Population

Question 3

Usually people with cystic fibrosis live to what age?

Answer 3

20

Question 4

3 main info about phenylketonuria?

Answer 4

1) they should have a diet low in phenylalanine
2) they have defect in PAH gene
3) they suffer from mental retardation

Question 5

Where are mucopolysacharrides synthesized?

Answer 5

Connective Tissue

Question 6

Whats the main problem in mucopolysacharridosis?

Answer 6

They are a group of storage disease caused by the deficiency of an enzyme which is necessary for the destruction of mucopolysaccharides This causes accumulation of mucopolysaccharides

Question 7

Whats the name of enzyme deffecient in mucopolysacharidosis?

Answer 7

alpha-L-idoridase

Question 8

what are the 2 types of mucopolysacharidosis?

Answer 8

1) Hurlers Syndrome(severe)

2) Scheie Syndrome

Question 9

symptoms of hurlers syndrome?

Answer 9

1) retardation
2) excretion of heparin and sulphate in urine
3) course shape face
4) short stature

Question 10

symptoms of schieie syndrome

Answer 10

1) also excretion of sulphate and heparin in unrine
2) arthritis
3) heart disease
4) eye problems

Question 11

Whats the defect in Familial Mediterranean Fever (FMF

Answer 11

FMF gene

Question 12

Whats the syptoms of Familial Mediterranean Fever (FMF

Answer 12

serosal inflammation with fever

the hardesr type is secondary amyloidosis

Question 13

What medicine can you give to Familial Mediterranean Fever (FMF patients?

Answer 13

Colchicine

Question 14

3 main info about Albinism?

Answer 14

Skin, eye and hair pigment is absent or much reduced  It does not affect vital organs and systems.  nystagmus ve strabismus

Question 15

List the 4 examples of X linked Dominant Diseases

Answer 15

 Pseudohypoparathyroidism  Incontinentia pigmenti  Rett sendrom AND Vitamin D Ricket Resistance

Question 16

What happens in Vitamin D Ricket Resistance

Answer 16

Abnormal phosphate reabsorption in renal tubes

Question 17

LIst the 2 examples of Y linked diseases

Answer 17

ichthyosis hystrix :  syndactyly: adherent fingers or toes 

Question 18

list the 6 examples of X linked Reccesive

Answer 18

1) Glaucoma
2) Night Blindness
3) Red/green colour blindness
4) Haemophillia
5) Cataracts
6) Duchenne Muscular Dystrophy

Question 19

Red/Green Colorblindness –

Answer 19

Difficulty perceiving differences between colors (red or green, blue or yellow).

Question 20

Hemophilia –

Answer 20

Absence of one or more proteins necessary for normal blood clotting. 

Question 21

Cataracts –

Answer 21

opacity in the lens that can lead to blindness

Question 22

Night blindness –

Answer 22

(Nyctalopia) rods do not work so that can not see in the dark

Question 23

Glaucoma –

Answer 23

pressure in the eye that can lead to optic nerve damage and blindness

Question 24

Duchenne Muscular Dystrophy

Answer 24

Progressive weakness and degeneration of skeletal muscles that control movement due to absence of dystrophin (protein that maintains muscle integrity).

Question 25

Whats the function of dystrophin

Answer 25

maintaining muscle integrity

Question 26

What does MELAS stand for?

Answer 26

mitochondriyal encephalomyopathy, lactic acidosis Attacks like stroke

Question 27

Where is the mutation in MELAS?

Answer 27

in tRNA leucine gene

Question 28

Syptoms of MELAS

Answer 28

hearing loss,cardial problems,diabetes type 2

Question 29

Syptoms of LHON

Answer 29

Typical presentation is acute, painless loss of vision. Initially, it affects one eye, within weeks to months, it also affects the second eye. It progresses to severe optic atrophy.

Question 30

what makes LHON different from other mitochondrial diseases

Answer 30

Affects only optic nerve not all systems

Question 31

what type of disorder is LHON

Answer 31

Mitochondrial

Question 32

LHON has....

Answer 32

low penetrance so some carriers stay assyptomatic

Question 33

types of Diabetes mellitus (DM)

Answer 33

Type 1,no insulin production | Type 2,resistance to insulin produced

Question 34

Syptoms of Diabetes mellitus (DM)

Answer 34

1) Excessive Urination 2) Weight loss 3) Blurred Vision 4) Metabolic Problems

Question 35

Which type of Diabetes mellitus (DM) depends more in genetics and inheritance?

Answer 35

Type 2

Question 36

what happens in Cleft lip and cleft palate

Answer 36

A cleft is a sub-division in the body's natural structure, regularly formed before birth

Question 37

What happens in Anencephaly

Answer 37

some parts not developed in skull or that the brain is developed but not covered

Question 38

Do Anencephaly patients survive

Answer 38

Usually die in mothers womb or may be born but die immediately cause of breathing or heart problems

Question 39

what type of defect is Spina bifida

Answer 39

neural tube defect

Question 40

Syptoms of Spina bifida

Answer 40

Varying degrees of paralysis  Learning disabilities  Bowel and bladder problems

Question 41

what are the 4 examples of MF diseases?

Answer 41

1) spina bifida 2) anencephaly 3) Diabetes 4) Cleft lip and Palate

Question 42

Whats the defect in | Neurofibromatosis type 1

Answer 42

GTPase activating protein/signal transduction

Question 43

Syptoms of | Neurofibromatosis type 1

Answer 43

Almost complete penetrance by age 5 years |  Cafe-au-lait spots  Lisch nodules

Question 44

Syptoms of Achrondoplastia

Answer 44

 Dwarfism with short limbs,  Short stature,  Big head,  Depressed nasal bridge,  Prominent forehead,  Skeletal deformity

Question 45

What type of mutation in achrondoplastia

Answer 45

fresh mutation

Question 46

whats the defect in n | Familial hypercholesterolemia

Answer 46

LDL receptor protein

Question 47

what do patients of | Familial hypercholesterolemia suffer from

Answer 47

elevated level of cholesterol/xathomas

Question 48

defect of Marfan Syndrome

Answer 48

connective tissue disease Fibrillin-1 (FBN1)

Question 49

syptoms of Marfan Syndrome

Answer 49

 skeletal deformities,  eye problems  cardiac problems  skin and respiration problems

Question 50

Defect of Osteogenesis imperfecta

Answer 50

in Collagen 1 production

Question 51

symptoms of Osteogenesis imperfecta

Answer 51

 Non-accidental injury  fractures and reduced bone density.  blue sclerae,  hyperextansibility  hearing loss

Question 52

defect of Polydactyly

Answer 52

HOX 13 gene

Question 53

polydactyly causes

Answer 53

skeletal deformations

Question 54

List the 6 AD diseases

Answer 54

Neurofibromatosis type 1 2) Polydactyly 3) Osteogenesis imperfecta 4) Marfan Syndrome 5) Familial hypercholesterolemia 6) achrondoplastia

Question 55

syptoms of mitochondrial inherited diseases

Answer 55

- myopathy, - ataxia, - retinopathy - optic neuropathy - hepatopathy, - bone marrow failure, - diabetes mellitus, - migraine, - hearing loss*,etc

Question 56

Kearns-Sayre and Pearson syndromes; what is it?

Answer 56

– They occur sporadic in the families and there is no maternal inheritance, because in every patient there is a new mitochondrial mutation.