Alport syndrome in a female child
-
sangeetha
- Posts: 6
- Joined: 16 Mar 2014 09:45
- Full Name: Sangeetha Geminiganesan
- Name of Your College/Medical School: .
- Contact:
Alport syndrome in a female child
11 yrs old adolescent girl child has been referred in view of gross hematuria on & off for 1 yr, evaluated, had nephritic range proteinuria. Her renal function was stable. Suspected diagnosis was IgA Nephropathy. Surprisingly her renal biopsy light microscopy and immunoflourescent study were normal. Electron microscopy revealed Alport syndrome. How frequently we encounter Alport in females?
-
Badri
- Posts: 707
- Joined: 26 Feb 2013 09:59
- Full Name: Kannivelu Badrinath
- Name of Your College/Medical School: Madras Medical College, Madras, India
- Contact:
Re: Alport syndrome in a female child
How very interesting. I wonder how common is this in India. Alport syndrome as I understand is a genetic disorder affecting the kidney, eye and hearing. Almost all individuals have some degree of haematuria. I presume this is what alerts the child (or parent). I think it would be good to discuss this topic in further posts.
Badri.
Badri.
-
Badri
- Posts: 707
- Joined: 26 Feb 2013 09:59
- Full Name: Kannivelu Badrinath
- Name of Your College/Medical School: Madras Medical College, Madras, India
- Contact:
Re: Alport syndrome in a female child
Sangeetha,
I have just checked up a little about the inheritance pattern in Alport Syndrome. I hope this helps.
Alport syndrome can have different inheritance patterns. About 80 percent of cases are caused by mutations in the COL4A5 gene and are inherited in an X-linked pattern. This gene is located on the X chromosome. In males (who have only one X chromosome), one altered copy of the COL4A5 gene in each cell is sufficient to cause kidney failure and other severe symptoms of the disorder. In females (who have two X chromosomes), a mutation in one copy of the COL4A5 gene usually only results in hematuria, but some women experience more severe symptoms. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
I hope you will be able to write a summary of all that we should know about this disease.
Badri.
I have just checked up a little about the inheritance pattern in Alport Syndrome. I hope this helps.
Alport syndrome can have different inheritance patterns. About 80 percent of cases are caused by mutations in the COL4A5 gene and are inherited in an X-linked pattern. This gene is located on the X chromosome. In males (who have only one X chromosome), one altered copy of the COL4A5 gene in each cell is sufficient to cause kidney failure and other severe symptoms of the disorder. In females (who have two X chromosomes), a mutation in one copy of the COL4A5 gene usually only results in hematuria, but some women experience more severe symptoms. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
I hope you will be able to write a summary of all that we should know about this disease.
Badri.