Childhood Diseases I

Question 1

Congenital Anomalies are ________ defects that are present at ______.

Answer 1

Anatomic (morphologic)

birth

Question 2

What is the number 1 cause of death in children less than 1 year old?

Answer 2

Congenital Anomalies

Question 3

What does “Congenital” mean?

Answer 3

“born with”

Question 4

With congenital anomalies, ______ and ________ may not become clinically apparent until years later. It does not imply or exclude a genetic basis for the birth defect.

Answer 4

cardiac defects

renal anomalies

Question 5

What is the incidence of congenital anomalies in the U.S for babies?

Answer 5

1/33 - 3%

Question 6

What are the factors that contribute to anomalies in order of most frequent and least frequent?

Answer 6

Unknown
Multifactorial
Genetic
Environmental

Question 7

What are congenital malformations in order of most frequent to least frequent? x5

Answer 7

1. Clubfoot without central nervous system anomalies
2. Patent ductus arteriosus
3. Ventricular septal defect
4. Cleft lip with or without cleft palate
5. Rectal and intestinal atresia

Question 8

Club foot presents with the affected foot being _________ at the ankle

Answer 8

internally rotated

Question 9

What is patent ductus arteriosus?

Answer 9

When the neonate’s ductus arteriosus fails to close after birth

Wait until child a year old to see if still open

Question 10

What does a ventricular septal defect appear like in the tissue?

Answer 10

a hole

Question 11

A cleft is a ________ or ________

Answer 11

fissure

opening

Question 12

What are the 3 types of atresia?

Answer 12

1. Rectal atresia
2. Intestinal atresia
3. Esophageal atresia

Question 13

What is the presentation of esophageal atresia? x2

Answer 13

Baby regurgitates at every feeding

Esophagus almost completely occluded in endoscopy

Question 14

What are 2 congenital anomalies due to genetic reasons?

Answer 14

Down syndrome

Cystic Fibrosis

Question 15

What is the incidence of Down Syndrome?

Answer 15

1/700

Question 16

Down Syndrome is a chromosomal disorder, specifically ______

Answer 16

trisomy 21

Question 17

What is the most common chromosomal disorder and the leading cause of mental retardation in the US?

Answer 17

Down Syndrome

Question 18

People with Down Syndrome have a 10-20 fold increase in developing ______ and ________. For _______, most commonly, is acute megakaryoblastic leukemia.

Answer 18

ALL

AML

AML

Question 19

Virtually all patients with Down Syndrome over 40 years old develop neurodegenerative changes characteristic of _______

Answer 19

Alzheimer Disease

Question 20

What does the abnormal immune response of people with Down Syndrome predispose them to? x2

Answer 20

1. Serous infections - particularly in the lung
2. Thyroid autoimmunity

Question 21

What correlates with the incidence of Down Syndrome?

Answer 21

Maternal age, specifically after 35 years old

Question 22

What are the 3 karyotypes of Down Syndrome (using girl as example)?

Answer 22

1. Trisomy 21 - 95%: 47,XX, +21
2. Robertsonian translocation type (4%): 46,XX (14;21q) + 21 or 46,XX (22;21q), +21
3. Mosaic type (1%): 46,XX/47,XX, +21

Question 23

What causes Trisomy 21, 47,XX + 21 type Down Syndrome?

Answer 23

Maternal age influence - meiotic nondisjunction in the ovum

Question 24

With Robertsonian translocation type Down Syndrome, they frequently are _______ and the translocated chromosome is ______ from one of the parents, who is a carrier of a Robertsonian translocation.

Answer 24

familial

inherited

Question 25

With Mosaic type Down Syndrome, there is a mixture of cells, some containing _____ and other containing _______ chromosomes.

Answer 25

46 47

Question 26

What are the physical features of Down Syndrome? x3

Answer 26

1. Flat facial profile - depressed nasal bridge and small nose 2. Oblique palpebral fissures - upward slant of eyes 3. Epicanthal folds - small skin folds on inner corner of eyes

Question 27

With Down Syndrome, a single deep crease appears across the centre of the palm. What is this called?

Answer 27

Simian Crease

Question 28

What are other physical characteristics of Down Syndrome?

Answer 28

Abundant neck skin Umbilical hernia Hypotonia Gap between 1st and 2nd toe

Question 29

What tests do we use to screen for Down Syndrome? x2

Answer 29

1. AFP/free beta screen 2. Nuchal translucency/free beta/PAPPA screen

Question 30

What does AFP/free beta screen measure? What is the detection rate of AFP/free beta screen and how many weeks can someone be along?

Answer 30

Measures AFP and free Beta-hCG 80% 13-22 weeks

Question 31

What does nuchal tranlucency/free beta/PAPPA screen measure? What is the detection rate and how long can someone be along?

Answer 31

Uses ultrasound to measure nuchal tranlucency in addition ot free Beta-hCG and PAPPA (pregnancy associated plasmpa protein A) 91% 10-13.5 weeks

Question 32

________ is an autosomal recessive disease and is the most common lethal genetic disease affecting caucasian populations.

Answer 32

Cystic Fibrosis

Question 33

What is the incidence of Cystic Fibrosis?

Answer 33

1/3200 live birth in US (1/2500 - 1/3500)

Question 34

Heterozygote carriers of Cystic Fibrosis have a higher incidence of _______ and _______ diseases compared with the general population.

Answer 34

Respiratory Pancreatic

Question 35

The principal defect in Cystic Fibrosis is epithelial _____________ protein resulting in ___________ in exocrine glands and viscous luminal fluid of the respiratory tract, GI, and reproductive tracts.

Answer 35

Chloride channel high salt concentration

Question 36

What do you measure as part of diagnosis of cystic fibrosis?

Answer 36

Hypertonic sweat (increased sodium and chloride)

Question 37

What mutation occurs with Cystic Fibrosis?

Answer 37

Mutation affecting both alleles of CFTR (CF transmembrane conductance regulator) gene on chromosome 7q 31.2

Question 38

The most common mutation in Cystic Fibrosis leads to a deletion of 3 nucleotides coding for _________ at amino acid position 508

Answer 38

phenylalanine

Question 39

The function of CFTR is __________, the impact of a mutation in CFTR in also ________

Answer 39

tissue specific

Question 40

What is the function of CFTR in sweat gland?

Answer 40

To reabsorb luminal chloride ions and augment sodium reabsorption via ENac (epithelial Na channel)

Question 41

Loss of CFTR in sweat gland leads to __________ and production of sweat with _________ than normal

Answer 41

decreased reabsorption of NaCL higher NaCl

Question 42

What is the function of CFTR in the respiratory and GI epithelial?

Answer 42

Secrete chloride into the lumen

Question 43

Loss of CFTR in respiratory and GI epithelial results in ________ or ______ of Cl- secretion into the lumen. Active luminal Na absorption is increased due to __________

Answer 43

loss or reduction lesser inhibition of ENac activity

Question 44

When CFTR function is lost in respiratory and GI epithelial, the loss of Cl- secretion and increased luminal Na absorption leads to increase __________ from the lumen, lowering the water content of the surface fluid layer coating mucosal cells.

Answer 44

passive water reabsorption

Question 45

Surface fluid layer coating mucosal cells is isotonic but low volume. In the lungs, this dehydration leads to accumulation of _________ secretions that obstruct the air passage and predispose to reccurrent infection.

Answer 45

hyperconcentrated viscid

Question 46

How does CF present in the lungs?

Answer 46

Bronchioles are distended with thick mucus associated with hyperplasia and hypertrophy of mucus secreting cells. Lung inflammation is severe

Question 47

What do you see under the microscope for a lung with cystic fibrosis?

Answer 47

Normal alveoli disappear. Thick collagen deposition in lung with cystic structure formation and inflammatory cell infiltration

Question 48

What are the range of signs and symptoms of CF?

Answer 48

1. Mild to severe 2. Presence at birth to onset years later 3. From confinement to one organ systemic to involvement of many

Question 49

What are 4 abnormalities that can occur with Cystic Fibrosis? x4

Answer 49

1. Chronic sinopulmonary disease 2. GI and nutritional abnormalities 3. Salt loss syndromes 4. Male urogenital abnormalities

Question 50

____________ is manifested by persistent colonization/infection with typical CF pathogens, chronic cough and sputum production, persistent chest radiograph abnormalities, airway obstruction, nasal polyps, and digital clubbing.

Answer 50

Chronic sinopulmonary disease

Question 51

What GI and nutritional abnormalities can occur with CF?

Answer 51

1. Intestinal 2. Pancreatic 3. Hepatic 4. Nutritional like failure to thrive, hypoproteinuria, edema, fat soluble vitamin deficiency

Question 52

Salt loss syndromes with CF include _______ x2

Answer 52

Acute salt depletion Chronic metabolic alkalosis

Question 53

Male urogenital abnormalities with Cystic Fibrosis result in______

Answer 53

Obstructive azoospermia (congenital bilateral absence of vas deferens)

Question 54

What are the clinical features of Cystic Fibrosis? x3

Answer 54

1. Respiratory (lung) infection 2. Newborns present with meconium ileus 3. Malabsorption and avitaminosis (ADEK) due to chronic pancreatic and chronic hepatic disease

Question 55

What are the symptoms of malabsorption with Cystic Fibrosis?

Answer 55

Diarrhea Large greasy foul smelling stools Abdominal distention Poor weight gain

Question 56

How do we interpret sweat Cl- concentration?

Answer 56

Normal = 10-35 mmol/L Cl- in sweat in most patients with CF is >60 mmol/L

Question 57

Cl- within range of 35-60 mmol/L calls for 2 steps

Answer 57

1. Repeat in a week 2. Check other clinical symptoms and signs