Diseases of Infancy and Childhood III Flashcards Preview

PBD II Exam 1 > Diseases of Infancy and Childhood III > Flashcards

Flashcards in Diseases of Infancy and Childhood III Deck (49):
1

inborn errors of metabolism

most are autosomal recessive or X-linked

2

PKU

abnormal phenylalanine metabolism

autosomal recessive

PAH mutations
-phenylalanine hydroxylase

untreated - leads to mental retardation and other neuro Sx

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benign hyperphenylalaninemia

modest elevation in blood phenylalanine
-no associated neuro damage

4

concentration for PKU diagnosis

above 600uM

normal less than 120

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abnormality in PKU

no phenylalanine to tyrosine

PAH in liver

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hepatic PAH system

phenylalanine > tyrosine
-PAH

coenzyme - BH4 (tetrahydrobiopterin)

DHPR - converts dihydrobiopterin to replenish BH4

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lack of PAH

shunt pathways emerge
-increased phenylpyruvic acid, phenyllactic acid, and o-hydroxyphenylacetic acid

large amounts in urine

8

presentation of PKU

musty/mousy odor

severe mental retardation by 6 months

1/3 can't walk or talk

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Tx of PKU

diet restriction of phenylalanine

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maternal PKU

phenylalanine that crosses the placenta and affects fetal organs

**important that maternal dietary restriction occur if she has PKU

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defects in BH4 recycling

disturb synthesis of neurotransmitters
-neuro defects still present even with normal phenylalanine levels

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galactosemia

autosomal recessive

disorder of galactose metabolism

13

galactose metabolism

converted to glucose in 3 rxns.

1 - galactose + ATP > galactose-1-P
(galactokinase)

2 - galactose 1-P + UDP-gucose > UDP-galactose + glucose 1-P
(galactose-1-P uridyl transferase)

3 - UDP-galactose > UDP-glucose
(UDP-galactose 4 epimerase)

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GALT

enzyme for rxn 2
-galactose-1-P uridyl transferase

more common**

15

galactokinase

enzyme for rxn 1

rare deficiency**

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path of galactosemia

galactose 1-P accumulates in liver, spleen, lens, kidneys, heart, cerebral cortex, erythrocytes

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presentation of galactosemia

cataracts
hepatomegaly (fatty liver)
alterations in CNS

also jaundice, aminoaciduria

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infection of galactosemia

E. coli

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diagnosis of galactosemia

presence of reducing sugar other than glucose in the urine

more reliable - testing presence of GALT

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Tx of galactosemia

removal of galactose from diet
-for first 2 years of life

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cystic fibrosis

autosomal recessive

disorder of ion transport in epithelial cells
-effects exocrine glands and epithelium of resp, GI, and repro tracts

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presentation of cystic fibrosis

chronic lung disease
pancreatic insufficiency
steatorrhea
malnutrition
hepatic cirrhosis
intestine obstruction
male infertility

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most common lethal genetic disease affecting caucasians

cystic fibrosis

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defect in CF

cystic fibrosis transmembrane conductance regulator
-CFTR

regulator of multiple ion channels - specifically ENaC

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ENaC

normally inhibitied by CFTR

except in sweat glands - stimulates

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loss of CFTR in sweat glands

decreased ENaC activity
-increased Na and Cl in lumen of sweat duct
-salty tasting sweat

27

loss of CFTR in airway and GI

increased Na back into cell
decreased Cl out of cell
-increased water into cell

dehydrated mucus as a result

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path of CF

isotonic but low volume surface fluid layer in resp and GI tracts

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CFTR and bicarb

mediates transport

-results in release of acidic fluids

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classes of mutations in CF

6 total

1, 2, 3, are severe - class CF
4, 5 are mild

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class I CF

defective protein synthesis of CFTR

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class II CF

abnormal protein folding, processing, trafficking
-no CFTR at apical surface

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class III CF

defective regulation of CFTR - no ATP binding

nonfunctional CFTR at apical surface

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class IV CF

decreased conductance
-mutation in transmembrane domain (chloride ion pore)

milder phenotype

35

class V CF

reduced abundance
-reduced amount of normal protein

milder phenotype

36

class VI CF

altered regulation of separate ion channels

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class CF

pancreatic insufficiency
sinopulmonary infection
GI symtoms

38

MBL2 and TGFB1

alter severity of CF manifestations

39

infection with CF

pseudomonas aeruginosa
-colonize lower resp tract

40

alginate

produced in lungs of CF patient
-hypoxic environment favors this

forms biofilm that protects bacteria from antibodies and antibiotics

41

bronchiectasis

with CF
-thickened airways with fibrosis

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meconeum ileus

with CF
-thickened and obstructed bowel

43

azoospermia

mild forms of CF
-maybe no vas deferens

44

pancreatic changes in CF

atrophy of exocrine glands
fibrosis
squamous metaplasia
dilation of ducts

45

most serious complications of CF

pulmonary changes
-secondary obstruction and increased infections

46

3 common infections in lung for CF

staph aureus
hemophilus influenzae
pseudomonas aeruginosa

47

burkholderia cepacia

infection in CF
-not good
-cepacia syndrome
-longer hospital stays
-increased mortalilty

48

causes of death in CF

lung infections, obstructive lung disease, cor pulmonale

49

diagnosis of CF

sequencing of CFTR gene