Alport syndrome

B Y ; M R . J A G D I S H S A M B A D
M S C . N U R S I N G , N E P H R O - U R O L O G Y
I K D R C C O L L E G E O F N U R S I N G
ALPORT SYNDROME
10/29/2018

Synonyms of Alport Syndrome
1. Hematuria-nephropathy deafness
2. Hemorrhagic familial nephritis
3. Hereditary deafness and nephropathy
4. Hereditary nephritis
5. Hereditary nephritis with sensory deafness
10/29/2018MR.JG SAMBAD,IKDRC COLLEGE OF NURISNG

Subdivisions of Alport Syndrome
 Autosomal dominant alport syndrome (ADAS)
 Autosomal recessive alport syndrome (ARAS)
 Col4a3-related nephropathy
 X-linked alport syndrome (XLAS)

INTRODUCTION
 Alport’s syndrome is a disease of collagen that affect the kidney always, the
ears usually, and the eyes often. Cecil alport described in the association of
hereditary heamaturic nephritis with hearing loss in a family whose affected
male member die in adolescence.
 Genetic advance have broadened the scope of the condition to include
optical defects, platelets abnormalities, late onset of kidney failure &
Normal hearing in some families.
 At lease 85% of kindreds have x-linked disease and the most or all of those
cases result from a mutation of COL4A5, the gene located at xq22 that
codes for the α5 (iv). Autosomal recessive inheritance occurs in perhaps 15
% of cases, and autosomal dominant inheritance has been shown in a
handful of cases.

Affected Populations
 Alport syndrome is estimated to affect approximately 1 in 5,000-10,000
people in the general population in the United States, which means that
approximately 30,000-60,000 people in the United States have the
disorder. Alport syndrome is estimated to account for 3% of children
with chronic kidney disease and 0.2% of adults with end-stage renal
disease in the United States. In XLAS, males are affected more severely
than females. In the autosomal forms of Alport syndrome, males and
females are affected with equal severity.

Definition of alport syndrome
Alport syndrome is a x-linked autosomal
recessive disease that damages the tiny blood
vessels in kidneys. It can lead to kidney disease
and kidney failure. It can also cause hearing loss
and problems within the eyes. Alport syndrome
causes damage kidneys by attacking the
glomeruli.

JUVENILE AND ADULT FORMS
 The distinction between juvenile and adult forms is fundamental to the
understanding of Alport's syndrome. Kidney failure tends to occur at a
similar age in all male members in a kindred , but this age varies widely
among kindreds. Uremia in male patients occurs in childhood or
adolescence in some families and in adulthood in others. Forms with
early onset of kidney failure in middle age are called adult type
nephritis.
 Extra renal manifestation tend to be more prominent in the juvenile
kindreds. Because boys in juvenile kindreds tend to be small and
frequently arise from New mutations. Adult- type kindreds are typically
much larger, and new mutations occurs infrequently.

Classic Genetics
 In most kindreds, inheritance of Alport's is x-linked. This was suggested
by classic pedigree analysis, strengthened by tight linkage to restriction
–fragment length polymorphous. (RFLP) And proved by identification
of mutation.

Molecular Genetics
 Causative mutations of COL4A5, these coding for α5 (iv), appears
consistently in many kindreds. These mutations include deletion, point
mutations and splicing errors. There is poor correlation between mutation
type and the clinical phenotype but deletion and some splicing errors
cause severe kidney disease and early hearing loss. Missense mutations
may cause juvenile disease with hearing loss or adult disease with or
without hearing loss. Deletion involving the 5 end of the adjacent COL4A6
gene occurs consistently in families with esophageal and genital
leiomyomatosis.
 Homozygous and mixed heterozygous for mutation of the COL4A3 or
COL4A4 gene develop autosomal receive Alport's syndrome.

Pathology
 In young children, results of light microscopy of the kidneys may be
normal or near normal. Glomeruli with persisting fetal morphology may
be seen. As disease progresses interstial and tubular forms cells, which
arise for reasons that are unclear, may become quite prominent,
although they can also be found in many other conditions. Eventually
progressive glomerulosclerosis and interstial scaring develop.
 The result of routine immunofluorescence examination for
immunoglobulin's and compliment components are negative but
staining for the α5(iv) chain may be informative .

Pathology cont..
 The GBM is up to there times it's normal thickness, split into several
irregular layers and frequently interspersed with numerous electron
dense granule about 40nm in diameter.
 In Florid case of juvenile type of the disease, the basement membrane
lamellae may branch and rejoin in a complex basket –weave pattern.
Early in the development of lesion, thinking of the GBM may
predominate or may be the only abnormality visible. The abnormalities
in children or adolescents with adult type Alport's syndrome may be
unimpressive or indistinguishable from those of TBMD (thin basement
membrane disease) disease.

Pathophysiology
Mutations in the COL4A3, COL4A1 and COL4A5 genes cause AS.
These genes each provide instructions for making one component of protein called type IV collagen.
So, mutations in these genes result in abnormalities of the type IV collagen in glomeruli…
Which prevents the kidneys from properly filtering the blood and allows blood and protein to pass into the
urine…
Gradual scarring of the kidneys occurs…
Leads to kidney failure…
Develop different signs and symptoms…

Clinical feature
 People with Alport syndrome always have kidney involvement. Many
people with the disease also have deafness and abnormalities of the
eyes, because the type IV collagen proteins are important to the normal
structure and function of the cochlea and the eye.
 The hallmark of Alport syndrome is blood in the urine (hematuria). In
boys with X-linked Alport syndrome hematuria first appears in early
childhood, and their urine is always positive for blood. Over 90% of
girls with X-linked Alport syndrome have hematuria, but it may be
intermittent. Some girls who carry a mutation in the alpha-5 chain gene
do not have blood in their urine.

Clinical feature-1
 All boys and girls with autosomal recessive Alport syndrome have
hematuria. Most people who carry a mutation in one copy of the alpha-
3 or alpha-4 chain genes have hematuria, but some do not.
 The hematuria of Alport syndrome is usually microscopic, meaning it
can only be detected with a microscope or a urine dipstick. Sometimes
children with Alport syndrome have brown, pink or red urine (gross
hematuria) for several days, associated with a cold or the flu. This gross
hematuria eventually stops on its own. It can be frightening, but it is
not harmful.

Clinical feature-2
 As boys with Alport syndrome get older, they begin to show additional signs
of kidney disease, such as protein in the urine (proteinuria) and high blood
pressure. These symptoms are often present by the time the boys are teen-
agers. Girls with Alport syndrome usually do not have protein in the urine
and high blood pressure until much later in life, but occasionally these
symptoms appear in childhood or adolescence.
 Deafness is an important feature of Alport syndrome. About 80% of boys
with the disease will develop deafness at some point in their lives, often by
adolescence. Fortunately, hearing aids are usually very effective in boys with
deafness caused by Alport syndrome. Girls with the disease may also
develop deafness, but less frequently than boys, and usually later in life. The
deafness of Alport syndrome is not improved by kidney transplantation.

Clinical feature-3
 About 15% of men with Alport syndrome have an abnormality in the
shape of the lens called anterior lenticonus, which may cause problems
with vision and lead to cataract formation.
 Some people with Alport syndrome have abnormal pigmentation of the
retina, but this does not result in any abnormalities of vision. Recurrent
corneal erosion is a painful eye problem that can occur in people with
Alport syndrome.

Diagnosis
 A diagnosis of Alport syndrome is suspected based upon identification
of characteristic symptoms, a detailed patient history, and a thorough
clinical evaluation. The likelihood of diagnosis increases in individuals
with a family history of Alport syndrome, kidney failure without known
cause, early hearing loss or hematuria. A variety of specialized tests can
help to confirm a suspected diagnosis.
 History and physical examination
 RFT, Urine analysis
 Renal biopsy
 Molecular genetic testing.
 Hearing and vision test.

Treatment
 Treatment may require the coordinated efforts of a team of specialists.
Pediatricians, nephrologists, audiologists, ophthalmologists, and other
healthcare professionals may need to systematically and comprehensively
plan an affect child’s treatment. Genetic counseling is beneficial for affected
individuals and their families. Psychosocial support for the entire family is
essential as well.
 Currently, there is no specific treatment for Alport syndrome. The goal is to
treat the symptoms and help slow the progression of kidney disease. This
may include:
 ACE inhibitor or ARB medicines (medications to control high blood pressure)
 Diuretics (water pills)
 Limit sodium (salt) in your diet

ACE Inhibitor
 Medications known as angiotensin-converting enzyme (ACE) inhibitors
have been used to treat individuals with Alport syndrome. This off-label use
may not be appropriate for all affected individuals and several factors must
be considered before starting the therapy such as baseline kidney function,
family history, and specific symptoms present. ACE inhibitors may be given
when elevated levels of protein are detectable in the urine (overt
proteinuria) in certain cases. These drugs are blood pressure medications
that prevent (inhibit) an enzyme in the body from producing angiotensin II.
Angiotensin II is a chemical that acts to narrow blood vessels and can raise
blood pressure. ACE inhibitors in individuals with Alport syndrome have
been shown to reduce proteinuria and slow the progression of kidney
disease, delaying the onset of renal failure.

Cont..
 Although treatment may slow the progression of kidney disease in Alport
syndrome, there is no cure for the disorder and no treatment that can
completely stop kidney decline.
 The rate of progression of kidney decline in individuals with Alport syndrome
is highly variable. In most affected individuals, kidney function eventually
deteriorates to the point where dialysis or a kidney transplant is required.
 Dialysis is a procedure in which a machine is used to perform some of the
functions of the kidney — filtering waste products from the bloodstream,
helping to control blood pressure, and helping to maintain proper levels of
essential chemicals such as potassium. End-stage renal disease is not
reversible so individuals will require lifelong dialysis treatment or a kidney
transplant.

Cont..
 A kidney transplant is preferred for individuals with Alport syndrome over
dialysis and has generally been associated with excellent outcomes in
treating affected individuals. Some individuals with Alport syndrome will
require a kidney transplant in adolescence or the teen-age years, while
others may not require a transplant until they are in their 40s or 50s. Most
females with XLAS and some individuals will ADAS syndrome never require
a transplant. If a kidney transplant is indicated, great care must be taken in
selecting living related kidney donors to ensure that affected individuals are
not chosen. Alport syndrome does not recur in kidney transplants. However
about 3% of transplanted Alport patients make antibodies to the normal
collagen IV proteins in the transplanted kidney, causing severe
inflammation of the transplant (anti-GBM nephritis).

Nursing management
 1. Impaired renal filtration related to glomerulonephritis and irregular
formation of the glomerular basement membrane as evidenced by
haematuria and proteinuria.
 2. Impaired visual and auditory function related to type IV collagen
mutations as evidenced by loss of hearing and myopia.
 3. Fluid and electrolytes imbalance related to diarrhoea and
haematuria.
 4. Decreased in quality of life related to impaired visual and auditory
functioning.
 5. Risk for fluid volume excess related to swelling in legs, feet and
around the eyes.

Cont..
6. Ineffective self care related to disease condition.
7. Altered nutrition: less than body requirement related to loss of
appetite.
8. Anxiety related to long term disease condition.
9. Knowledge deficit related to disease condition, its causes, prognosis
and its management.

Goal of nursing management
 Reduction of oedema
 Nutrition
 Administering medication
 Skin care
 Infection prevention
 Promoting psychological growth
 Parent teaching

Health education on diet
Foods to eat with AS,
 High quality protein
 Foods with anti-oxidant property
 Food or drinks with diuretic property
 Foods rich in omega-3 fatty acid

DO NOT TAKE
 Foods not to eat with AS,
 High-sodium foods
 High-potassium foods
 Low-quality protein
 High-phosphorus foods
 Alcohol or caffeine containing drinks

Compilation
 Cataract
 Sensorial hearing loss
 Chronic renal failure
 Depression
 Complication during pregnancy

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