INTRODUCTION

ALPORT (1927) described the features of

“HEREDITARY ALPORT SYNDROME”

Alport syndrome is otherwise called as

“single gene syndrome”

One of the important characteristic features

are “HEREDITARY NEPHRITIS AND

DEAFNESS”

MODE OF INHERITANCE

Alport syndrome is inherited in an “X-linked” pattern due to mutations in the COL4A5 gene. In males, who have only one X chromosome one altered copy of the COL4A5 gene is sufficient to cause severe alport syndrome. In female who have two X chromosomes, a mutation in one copy of the col4A5 gene usually results in blood in the urine.

Autosomal domination inheritance.

INCIDENCE

The disorder is uncommon, and most

often affects males. Women can transmit the

gene for the disorder to their children, even if

they have no symptoms.

74% of males are usually diagnosed as

having the disease before age 6.

PREVALENCE

Alport syndrome is approximately reported 1

of 5000 births.

CHARACTERISTIC FEATURES

Chronic nephritis

Renal disease->ultra structural changes of the

glomerular capillary basement membrane with

absence of the immune phenomenon seen in

other glomerular disease.

SYMPTOMSHematuria

Nephropathy

Hypertension in female patients

Slow progressive hearing loss

HEARING CHARACTRISTICS In Alport syndrome “BILATERAL PROGRESSIVE

SENSORINEURAL HEARING IMPAIRMENT”

Genetically based hearing impairment

The hearing impairment occurs more frequently

in patients and begins with gradual onset at

about age 10.

Loss of cochlear neurons and haircells

Atrophy of striavascularis and spiral ligament

and endolympatic hydrops.

According to Rintleman(1976)

3 types of audiogram

-trough shaped

-slop and flat shaped

Bilateral symmetrical hearing loss

Degree of hearing loss ranges from mild to

severe

SPEECH CHARACTERISTICS

Lack of articulation precision with high

frequency consonants such as “fricatives”

Difficulty in monitoring vocal frequency and

intensity level and in controlling the stress effort

of speech production.

MANAGEMENTGENETICS AND MEDICAL:-

Primary medical concern will be centered

around maintenance of renal function.

Heamodilusis (or) kidney transplantation

may be necessary in severe cases of

nephritics.

Careful review of family pedigree is essential

in differentiating between modes of

inheritance

HEARING

In view of the progressive nature of this

disorder, careful and frequent monitoring of

audiological status and amplification program is

strongly advised.

SPEECH

Aural rehabilitation, speech therapy and hearing

aid fitting

PROGNOSIS

Poor prognosis for affected male patient

Fair to good for affected female patients

Careful longterm follow up is necessary