Alport Syndrome Life Expectancy – A rare Genetic Disease

Alport Syndrome Life Expectancy – A rare Genetic Disease

Alport syndrome have first described by Doctor Cecil Alport in year 1927. This disease have an X linked ot autosomal recessive inheritance. For this reason, only males will affected. This syndrome is a rare genetic disease that have reported in 1 of 50.000 people. In alport syndrome a structural defect of type IV collagen is available that affects the kidneys glomerulus. This disease can also affect the tissues of eye lens, but the vision will usually not affected.

Alport Syndrome genetics:

This disease mostly have an X linked inheritance, that only affects males. The defective genes are on X chromosome and the females have 2 X cromosomes. In this disease healthy X chromosome is dominant to diseased one. So, females will never develop X linked form of this disease. % 85 of Alport syndrome patients have X-linked inherited form of this disease. In this patients, COL4A5 gene mutations on X chromosome have caused to this disease.

Alport syndrome has an autosomal recessive form also. This form can seen in females too. In this form fresh mutation rate is very low. Because of it, parents of an individual with autosomal recessive Alport syndrome will carry the defective gene. %15 part of this disease is autosomal recessive inherited form. In autosomal recessive form, the defective genes are COL4A3 or COL4A4 that is on chromosome 2.

Alport Syndrome symptoms:

  • Due to lamellated glomerular basement membrane (hereditary congenital haemorrhagic nephritis), experience progressive loss of kidney function will seen in these patients at time. Hematuria, proteinuria, hypertension and peripheral edema may develop in time.
  • Because of affecting to eardrum, sensorineural hearing loss to high tones may seen. Most affected individuals will become deafness up to 40 years of age.
  • Alport syndrome have specific eye finding that called anterior lenticonus. With it, usually not affects the visual. Some patients may have abnormal coloration on retina (dot-and-fleck retinopathy), which can lead to vision loss also. Maculopathy and macular damage can seen in these patients that cause to central vision loss also.
  • This patients will have also osteoporosis and joint pain.

Alport Syndrome diagnosis:

  • Family history and clinical findings are important.
  • In kidney biyopsi absence of type IV collagen may seen. With it, this finding is diagnostic for Alport syndrome.
  • In ophthalmological exam, anterior lenticonus may seen. This finding is also characteristic for this disease.
  • Genetic testing will confirm the diagnosis and determine the pattern of inheritance.

Alport Syndrome treatment:

The primary goal of the treatment is monitoring and controlling progression of renal involvement. Using ACE inhibitors will help to slowing the progression of renal disease. With it, blood pressure must be followed for a long time. With it, chronic kidney failure progresses to end-stage renal disease that needs dialysis. Renal transplantation may beneficial for chosen patients.

Alport Syndrome life expectancy:

Both of X-linked and autosomal recessive inherited disease lifespan is similar. In these patients end stage renal failure average age is 25 years of age. Almost all of these patients will need renal transplantation before 35 years of age. The average life expectancy of these patients is about 50 years with all treatments involving renal transplantation also.

Only %3-4 of Alport Syndrome is autosomal dominant type and they will live more than 70 years of age.

To read about Cowden syndrome click this link

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