Alport syndrome is a genetically inherited condition which causes kidney malfunction, ocular and hearing defect. It is a rare disease affecting 1 in 50000 live births. The disease is characterized by progressive kidney damage. Almost all people with alport syndrome pass blood in urine (hematuria), with some patients passing too much of protein in the urine (proteinuria).
It is X linked disorder hence males are predominantly affected as compared to females. In women the severity of disease is less with seldom chances of end stage renal disease. Hearing loss is due to problem in the inner ear.Eye problem results due to structural defect in the lens but there is seldom loss of complete vision.
Alport syndrome was first described and identified by Cecil A Alprot in 1927, hence the name. There is no specific treatment for the disease. The aim is to slowdown progression of kidney failure. Hearing loss is permanent but problem with eye lenses can be corrected with surgical approach.
What Causes Alport Syndrome?
Alport syndrome as mentioned earlier is a rare disease affecting 1 in 50000 people in USA. It is an inherited condition and is passed down in families.The defect lies in the gene that is meant for formation of protein called collagen. Collagen is a protein present in many organs of the body including kidney, eyes, and hearing apparatus inside the ear.
Collagen plays vital role in formation of normal structure of kidney. It is also present in various tissues of eyes and ear. Hence change in collagen can affect function of kidney, eyes, and ear. Alport syndrome can occur as an X-linked or autosomal dominant or autosomal recessive. Majority are X-linked which most commonly affects boys. Girls have milder symptoms as compared to boys. Autosomal dominant and autosomal recessive types are less.
Signs And Symptoms Of Alport Syndrome
Alport syndrome has three major clinical features; progressive damage to the small vessels in kidney, hearing loss and defect in eye. Damage to the kidney vessels hampers proper filtration process of kidney. The waste material and extra fluid cannot be processed due to dysfunction of the kidney.
Collagen tissue malformation in the middle ear causes sensorineural hearing loss where as in the eye the lens is affected. Here are some of the symptoms of alport syndrome:
- Passage of blood in urine.
- Passage of too much protein in urine.
- High blood pressure.
- Swelling in legs, and ankles.
- Decrease in vision.
- Pain in flanks.
- Although the disease is less severe in women, during pregnancy the symptoms worsen and may accelerate worsening of kidney function. She can also develop preeclampsia.
The symptoms are more aggressive in men as compared to women. The symptoms usually develop at young age. End stage kidney disease occurs at an early age, between adolescence and 40 years.
Management Of Alport Syndrome
Diagnosis can be made with the help of family history of symptoms of Alport syndrome, blood tests and hearing test, and genetic study of the patient.
There is no specific treatment of Alport syndrome. The management aim of the disease is to monitor the symptom, control and treat the condition. It is necessary to control high blood pressure. ACE inhibitors, diuretics, and reduction in intake of sodium salt will help to control blood pressure and slow down the progression of kidney disease.
Since there is structural defect in the lens, patient is prone to develop cataract. Surgical extraction of cataract and replacing of lens with artificial lens will help in resolving problem related to eyes. Since hearing loss cannot be corrected, patient may benefit by using hearing aid, lip reading skill, etc. Since the disorder is hereditary, genetic counseling is necessary for the patient.