2. Prepared by:
Dennis Lagos
Kristian Pio Padilla
Lumier de Juan
Lara Joelen
Lyka Suansing
3. Causes, incidence and risk factors
Alport syndrome is an inherited disorder that damages
the tiny blood vessels in the kidneys. It is an inherited
form of kidney inflammation (nephritis). It is caused
by a mutation in a gene for a protein in the connective
tissue, called collagen. These mutations come
from COL4A3, COL4A4,
and COL4A5, collagen biosynthesis genes.
4. The disorder is uncommon. It most often affects
males. Women can pass the gene for the disorder to
their children, even if they have no symptoms.
Risk factors include:
End-stage kidney disease in male relatives
Family history of Alport syndrome
Hearing loss before age 30
5. Symptoms
The disorder damages the tiny blood vessels in the
glomeruli of the kidneys. The glomeruli filter blood to
make urine and remove waste products from the
blood.
6. At first, there are no symptoms. However, the
destruction of the glomeruli over time leads to blood
in the urine and may decrease the effectiveness of the
kidney's filtering system. Often kidney function is lost
over time and waste products and fluids build up in
the body.
7. Symptoms include:
Abnormal urine color
Ankle, feet and leg swelling
Blood in the urine
Decreased or loss of vision
Loss of hearing
Swelling around the eye
The condition can progress to end-stage renal disease at an early age.
8. Signs and Tests
Signs include:
Changes to the eye, including the fundus, cataracts, or
bulging of the lens.
High blood pressure.
9. The following tests may be done:
Audiometry
BUN and serum creatinine
Complete blood count
Renal biopsy
Urinalysis
10. Treatments
Monitoring blood pressure.
Treating chronic kidney disease through dialysis or
kidney transplant.
Surgery to repair cataracts.
Hearing loss likely to be permanent.
Genetic counseling.
11. Fechtner Syndrome
A variation of Alport’s Syndrome
It is a rare condition characterized by the presence of
large blood platelets, kidney inflammation, deafness
and abnormal leukocytes.
Results from a mutation in the MYH9 gene localized to
22q12-13, encodes the nonmuscle myosin heavy chain
type IIA (MYHIIA), which is expressed in some blood
cells (polynuclear cells, monocytes and platelets), in
the cochlea and in the kidneys.
12. These molecular anomalies result in abnormal
dimerization of the MYHIIA protein, which becomes
unstable and coprecipitates with normal MYHIIA in
the cytoplasm of leucocytes, thus forming cytoplasmic
inclusion bodies.
This abnormal dimerization also leads to a failure to
properly organize the cytoskeleton in megakaryocytes,
which triggers macrocytic thrombopenia
13. Fig 3. Thin section of buffy
coat sample from
peripheral blood of a patient
with the Fechtner
syndrome. Many giant
platelets. some larger than the
two lymphocytes (LI are
apparent in the
sampIe(original magnification
x 5.000; current magnification
x 4000)
14. Giant platelet from another
patient with
Fechtner syndrome. Although
the cell is large. the
relative numbers of granules
(G). mitochondria (M).
and dense bodies (DB) is not
unusual. Microtubules
(MT) and elements of the dense
tubular system (DTS)
of channels are present
(original magnification
x26.500; current magnification
x21.730).
