Mtb: Pediatrics 2, Hemorrhagic Disease Of The Newborn And Newborn Screening

Front 1

What is the pathophys of hemorrhagic disease of the newborn?

Back 1

the newborn has had no chance for gut bacteria to colonize and begin producing vitamin K. normally, E coli lines the gut and produces this from the diet

so they are at very high risk of hemorrhage

Front 2

What coagulation factors is the newborn deficient in?

Back 2

Factors II, VII, IX and X

Protein C and S

Front 3

where does the bleeding often occur

Back 3

GI tract so you see rectal bleeding

urinary tract

and through the umbilicus as well

Front 4

So what do we do to prevent this?

Back 4

we give them a single dose IM Vitamin K

Front 5

Does this decrease mortality?

Back 5

yep

Front 6

when do we screen newborns?

Back 6

all newborns are screened PRIOR to discharge

Front 7

8 diseases that we screen for

Back 7

PKU

CAH

biotinidase

Beta thalassemia

Galactosemia

hypothyroidism

homocysteinuria

cystic fibrosis

Front 8

What is the inheritance for G6PD deficiency?

Back 8

it's X linked

Front 9

How does G6PD deficiency present

Back 9

with episodes of hemolytic crisis following oxidative stress

Front 10

what si the mgmt. for G6PD deficiency?

Back 10

reducing oxidation in the diet, avoiding meds with sulfa/nitro, avoiding nitrates in the diet etc.

at times splenectomy

Front 11

classic peripheral smear finding for G6PD deficiency

Back 11

bite cells and Heinz bodies (not Howell Jolly bodies)

Front 12

inheritance of phenylketonuria

Back 12

autosomal recessive

Front 13

What is the problem in PKU?

Back 13

it's a deficiency of phenylalanine hydroxylase, an enzyme that can convert phenylalanine into tyrosine

so they have toxic buildup of phenylalanine and they are deficient in tyrosine derivatives like melanin, catecholamines etc.

they also have a mousy smell and can present with acquired MR, very rare

Front 14

treatment for PKU

Back 14

found on the newborn screen and they just have to avoid phenylalanine entirely in the diet and supplement tyrosine

Front 15

MTB points out that PKU patients may be able to have some phenylalanine in the diet after adolescence, 16 years of age, when the brain is

Back 15

fully developed

Front 16

Galactosemia

Back 16

not much here: just says a rare genetic disorder that precludes normal metabolism of glucose. cut out all lactose-containing products

Front 17

What is CAH?

Back 17

congenital adrenal hyperplasia

a whole collection of autosomal recessive enzyme deficiencies involved in the steroidogenesis pathway

Can present with symptoms of sex steroid deficiency/excess, glucocorticoid deficiency, can present with salt-wasting and mineralocorticoid deficiency etc.

Front 18

What is the presentation of CAH?

Back 18

the most common is 21-hydroxylase deficiency, which presents with clitoromegaly/ambiguous genitalia at birth and hypotension, profound salt wasting

Front 19

treatment of CAH?

Back 19

replace all deficient mineralocorticoids and glucocorticoids

Front 20

main result of cong. hypothyroidism

Back 20

cretinism

Front 21

when do we hear the test?

Back 21

it does actually occur alongside the newborn screen

Front 22

inheritance of CF

Back 22

autosomal recessive

most common AR disease in Caucasians (~1:20 are carriers)

Front 23

and what does CF result in?

Back 23

it's basically a disease characterized by pathological buildup of copious, thick mucous in various organs including the lungs and pancreas

Front 24

what is the best initial test for CF?

Back 24

sweat chloride testing (they use pilocarpine to stimulate the sweating

Front 25

what is the most accurate test for CF?

Back 25

genetic testing of the CFTR gene

Front 26

how do we manage HBV vaccination and immune globulin?

Back 26

every baby is given the vaccination but only infants of HBsAg + moms need immune globulin