Alport syndrome is an inherited disorder caused by mutations in collagen genes that damage the tiny blood vessels in the kidneys. It most often affects males and can progress to end-stage renal disease at an early age. Symptoms include blood in the urine, hearing and vision loss, and swelling in the legs. Fechtner syndrome is a rare variation characterized by enlarged blood platelets, kidney inflammation, deafness, and abnormal white blood cells caused by a mutation in the MYH9 gene. Symptoms include cataracts, deafness, nephritis, kidney disease, and excessive bleeding due to low platelet count. Both conditions can lead to kidney failure and require treatments like dialysis and transplant.

1. Hereditary Nephritis, Hemorrhagic Familial Nephritis
or Hereditary Deafness and Nephropathy

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).

15. Symptoms
 Congenital cataracts
 Deafness
 Nephritis
 Enlarged blood platelets
 Renal disease
 Increased protein levels in urine
 Juvenile glaucoma
 Kidney disease
 Excessive menstrual bleeding
 Thrombocytopenia
 Proteinuria
 Hematuria

16. Hemmorhagic Manifestations
 thrombopenic purpura
 Epistaxis
 profuse menstruations
 ecchymoses