Alport syndrome is a genetic disorder characterized by hereditary nephritis and deafness. It is caused by mutations in the COL4A5 gene, which is inherited in an X-linked pattern. Males experience more severe symptoms while females may only show blood in the urine. Symptoms include hematuria, nephropathy, hypertension, and progressive hearing loss beginning around age 10. Management involves maintaining renal function through treatments like hemodialysis or kidney transplantation as well as monitoring hearing and providing speech therapy and hearing aids. The prognosis is generally poor for affected males and fair to good for affected females.

1. ALPORT SYNDROME

3. INTRODUCTIONALPORT (1927) described the features of “HEREDITARY ALPORT SYNDROME”

4. Alport syndrome is otherwise called as “single gene syndrome”

5. One of the important characteristic features are “HEREDITARY NEPHRITIS AND DEAFNESS” MODE OF INHERITANCEAlport 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.

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. CHARACTERISTIC FEATURESChronic nephritis

10. Renal disease->ultra structural changes of the glomerular capillary basement membrane with absence of the immune phenomenon seen in other glomerular disease.

13. SYMPTOMSHematuria

14. Nephropathy

15. Hypertension in female patients

16. Slow progressive hearing loss

17. HEARING CHARACTRISTICSIn Alport syndrome “BILATERAL PROGRESSIVE SENSORINEURAL HEARING IMPAIRMENT”Genetically based hearing impairmentThe hearing impairment occurs more frequently in patients and begins with gradual onset at about age 10.Loss of cochlear neurons and haircellsAtrophy of striavascularis and spiral ligament and endolympatichydrops.

18. According to Rintleman(1976)3 types of audiogram -trough shaped -slop and flat shapedBilateral symmetrical hearing loss

19. Degree of hearing loss ranges from mild to severe

22. SPEECH CHARACTERISTICS Lack of articulation precision with high frequency consonants such as “fricatives”

23. 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.

24. Heamodilusis (or) kidney transplantation may be necessary in severe cases of nephritics.

25. 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. SPEECHAural rehabilitation, speech therapy and hearing aid fitting PROGNOSISPoor prognosis for affected male patient