Pathology - sidebyside.pdf

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Pathology
Autosomal recessive diseases
(11)
1. CF 2. albinism 3. alpha 1
antitrypsin deficiency 4.
phenylketonuria 5. thalassemias 6.
sicke cell anemia 7. glycogen
storage diseases 8.
mucopolysaccharidoses (except
Hunter's) 9. sphingolipidoses (except
Fabry's) 10.infant polycystic kidney
disease 11. hemochromatosis
_____are associated with low
golic acid intake during
pregnancy.
Neural tube defects
90% of adult polycystic kidney
disease cases are due to
mutation in _____.
APKD1 (on chromosome 16)
95% of Down's syndrome
cases are due to what?
meiotic nondisjunction of
homologous chromosomes
(4% due to Robertsonian
translocation and 1% due to
Down mosaicism)
43104026.002.png
A patent ductus arteriosus is
maintained by what 2 things?
PGE synthesis and low oxygen
tension
Abnormalities associated with
Marfan's syndrome:
1. Skeletal: tall with long
extremities, hyperextensive
joints, long tapering fingers and
toes 2. Cardiovascular: cystic
medial necrosis of the aorta,
aortic incompetence, aortic
dissection, aortic aneurysm,
floppy mitral valve Ocular:
subluxation of lenses
Adult polycystic kidney
disease is associated with
what other diseases or
disorders?
polycystic liver disease BERRY
ANEURYSMS mitral valve
prolapse
Babies with Fetal Alcohol
Syndrome are at higher risk
for developing what other
problems?
pre and postnatal
developmental retardation
microcephaly facial
abnormalities limb
dislocation heart and lung
fistulas
43104026.003.png
Becker's muscular dystrophy
is due to____.
dystrophin gene mutations
(not deletions) Becker's is less
severe.
Besides pulmonary infections,
what are some other
consequences of CF?
infertility in males fat-
soluable vitamin deficiencies
(A,D,E,K)
Causes of female
pseudohermaphroditism:
excessive and inappropriate
exposure to androgenic
steroids during early
gestation (i.e., congenital
adrenal hyperplasia or
exogenous administration of
androgens during pregnancy)
Characteristic murmur with a
patent ductus arteriosus.
continuous, 'machine-like'
43104026.004.png
Characteristics of Adult
polycystic kidney disease:
always bilateral massive
enlargement of kidneys due
to multiple large cysts
patients present with pain,
hematuria, HTN, and
progressive renal failure
Characteristics of Duchenne's
MD:
onset before age 5 weakness
begins in the pelvic girdle
muscles and progresses
superiorly pseudohypertrophy
of calf muscles due to
fibrofatty replacement of
muscle cardiac myopathy use
of Gower's maneuver
Characteristics of female
pseudohermaphroditism:
ovaries present but external
genitalia are virilized or
ambiguous
Characteristics of Fragile X
syndrome:
macro-orchidism (enlarged
testes), long face with a large
jaw, large everted ears, and
autism
43104026.005.png
Characteristics of Hereditary
Sperocytosis:
spheroid erythrocytes
hemolytic anemia increased
MCHC splenectomy is
curative
Characteristics of male
pseudohermaphroditism:
testes present, but external
genitalia are female or
ambiguous.
Children may do this to
increase venous return with
R-to-L shunt.
squat
Compare the cholesterol
levels of heterozygores and
homozygotes with familial
hyperchlosterolemia:
Heterozygotes (1 : 500)
cholest. levels around
300mg/dL Homozygotes
(very rare) cholest. levels over
700 mg/dL.
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