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ALPORT  SYNDROME
                INTRODUCTION ,[object Object]
Alport syndrome is otherwise called as “single gene syndrome”
One of the important characteristic features are “HEREDITARY NEPHRITIS AND DEAFNESS”,[object Object]
                   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 ,[object Object]
Renal disease->ultra structural changes of  the glomerular capillary basement membrane with absence of the immune phenomenon seen in other glomerular disease.,[object Object]
                 SYMPTOMS ,[object Object]
Nephropathy
Hypertension in female patients
Slow progressive hearing loss,[object Object]
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 endolympatichydrops.
According to Rintleman(1976) ,[object Object],          -trough shaped          -slop and flat shaped ,[object Object]
Degree of hearing loss ranges from mild to severe,[object Object]
SPEECH  CHARACTERISTICS  ,[object Object]
Difficulty in monitoring vocal frequency and intensity level and in controlling the stress effort of speech production.,[object Object]
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,[object Object],[object Object],[object Object]

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Alport

  • 2.
  • 3.
  • 4. Alport syndrome is otherwise called as “single gene syndrome”
  • 5.
  • 6.
  • 7. 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.
  • 8. PREVALENCE Alport syndrome is approximately reported 1 of 5000 births.
  • 9.
  • 10.
  • 11.
  • 12.
  • 13.
  • 16.
  • 17. 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 endolympatichydrops.
  • 18.
  • 19.
  • 20.
  • 21.
  • 22.
  • 23.
  • 24. Heamodilusis (or) kidney transplantation may be necessary in severe cases of nephritics.
  • 25.
  • 26. Fair to good for affected female patients
  • 27.