How is Alport syndrome diagnosed?
Hearing test: A hearing test will be done to see if your hearing has been affected. Vision test: A vision test will be done to see if you vision has been affected. Genetic test: This can help confirm the diagnosis and determine the genetic type of Alport syndrome you may have.
Is Alport syndrome nephritic or nephrotic?
Alport syndrome is a nephritic syndrome caused by a mutation in the COL4A3, COL4A4, and COL4A5 genes that encode the alpha-5 chain of type IV collagen and results in altered type IV collagen strands.
What type of mutation is Alport syndrome?
In approximately 15 percent of cases, Alport syndrome results from mutations in both copies of the COL4A3 or COL4A4 gene and is inherited in an autosomal recessive pattern . The parents of an individual with the autosomal recessive form of this condition each have one copy of the mutated gene and are called carriers.
Is Alport syndrome a type of glomerulonephritis?
(Hereditary Nephritis) Alport syndrome is a hereditary (genetic) disorder that results in glomerulonephritis in which kidney function is poor, blood is present in the urine, and deafness and eye abnormalities sometimes occur. (See also Overview of Kidney Filtering Disorders.
What age is Alport syndrome diagnosed?
Hearing loss typically develops during late childhood or early adolescence, and most affected individuals become deaf by age 40. Alport syndrome is also characterized by specific eye changes….Symptoms.
| Medical Terms | Other Names | Learn More: HPO ID |
|---|---|---|
| Corneal erosion | Damage to outer layer of the cornea of the eye | 0200020 |
What is the ICD 10 code for Alport syndrome?
Q87. 81 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.
At what age is Alport syndrome diagnosed?
Autosomal dominant Alport syndrome is characterized by a late onset age, between 40 and 60 years [6,7]; however, the patients included in our sample had a relatively early median age at the moment of the diagnosis of the disease, around 29 years, and similar to what has been observed in other inheritance patterns.
Is Alport syndrome a connective tissue disorder?
Alport syndrome is an inherited form of kidney inflammation (nephritis). It is caused by a defect (mutation) in a gene for a protein in the connective tissue, called collagen. The disorder is rare.
What does KBG syndrome mean?
KBG syndrome is a rare disorder that affects several body systems. “KBG” represents the surname initials of the first families diagnosed with the disorder. Common signs and symptoms in individuals with this condition include unusual facial features, skeletal abnormalities, and intellectual disability.
What do you need to know about Alport syndrome?
The term Alport syndrome refers to a group of inherited, heterogeneous disorders involving the basement membranes of the kidney and frequently affecting the cochlea and eye as well.
What is the gene frequency ratio of Alport syndrome?
Alport syndrome, which is genetically heterogeneous, is caused by defects in the genes encoding alpha-3, alpha-4, or alpha-5 chains of type IV collagen of the basement membranes. The estimated gene frequency ratio of Alport syndrome is 1:5000. The following 3 genetic forms of Alport syndrome exist:
When does X-linked Alport syndrome ( XLas ) develop?
According to whether end-stage renal disease (ESRD) develops before or after age 30 years, X-linked Alport syndrome (XLAS) arbitrarily is categorized as either the juvenile type or the adult type. The juvenile type is encountered in 75% of kindreds.
Can a patient with Alport syndrome get a kidney transplant?
Kidney transplantation is usually offered to patients with Alport syndrome who develop end-stage renal disease (ESRD). Recurrent disease does not occur in the transplanted kidney, and the allograft survival rate in these patients is similar to that in patients with other kidneyrenal diseases. [ 4]