Transcript Chronic Conditions - Shepherd Webpages

Chronic Conditions
Genetic/inherited
Congenital
Metabolic
Degenerative
Infectious
Klinefelter’s Syndrome
Feminization due to
extra X chromosome
Tall, small penis and
testicles,
underdeveloped
secondary sex X-er
Infertile, impaired
learning abilities
Management of K/S
Hormone therapy; but fertility is NOT
restored by testosterone therpay
ii. Turner’s Syndrome
Occurs only in
females (1 in 5,000)
with absence of
second X
Chromosome
Equivalency to
Klinefelter’s –
infertility, diminished
secondary sex X-er
Short Stature, Webbed Neck, Lack
of Secondary Sex X-er, Hollow
Chest, No menstruation, Low
hairline, droopy eyelids
SuperMasculinity
RAM FOOTBALL,
2005
SuperMasculinity
SuperMasculinity – Slightly taller
for most females and more
aggressive
SuperMasculinity
RAM Football Alumni,
2035
Cystic Fibrosis (inherited)
Affects children with 1 in 2,00 Births – life
expectancy up to age 30 – important
bodily functions are disrupted like
digestive enzymes – increased mucous
production and conservation of
electrolytes.
Serious problems with respiration and
digestion
C.F.
C.F.
Prevention, DX, MGT
Usually Dx in children with combination of
symptoms; poor growth, foul smelling stools,
chronic coughing/wheezing, recurrent
pneumonia, nasal polyps enlarged fingertips,
skin that has a salty taste.
Dx is through blood test – Incurable, life
shortening, special diets developed to support
weight and maintain growth
Needs respiratory therapy, inhaled antibiotics,
vaccines and drug combos - ??gene therapy??
Tay Sach’s Disease (inability to
metabolize fats)
Rarest of genetic
diseases – seen in
Eastern European
Jews
Tay Sach’s
Enlargement of the
head
T.S.
Children may appear normal at birth, but
signs of neurological abnormalities
develop by age 6
Includes blindness, deafness, muscle
atrophy, paralysis and inability to swallow
SYMPTOMS: Slurred speech, cramps,
tremors and sometimes mental illness
Deaths usually occur around age 15 (lipids
lodged in neural pathways of the brain
Sickle Cell Anemia
Abnormal hemoglobin
More prominent in Blacks
Shortened life expectancy with
Periods of pain and impairment
Crescent shaped RBC unable to diffuse
through capillaries; body removes cells
which leads to anemia
S.C.A
Impaired lung
function; Congestive
heart failure;
gallbladder infections;
bone changes,
abnormalities of skin
and eyes
Px lives up to 50
years of age
Prevention/Dx/Treatment
Easily diagnosed with symptoms
appearing after two years of age via blood
test
MGT by physical and occupational therapy
Disease is irreversable
If disease is found in woman, it is through
genetic mutation and not inherited
Congenital Abnormalities
Abnormalities present at birth due to tissue
changes during embryonic development
Forms early in PG ranging in degree of
severity
Causes considered MULTI-FACTORAL –
genetics and environment