ALPORT SYNDROME

Alport syndrome is a disease that damages the tiny vessels in your kidneys that will lead to kidney disease or even kidney failure. The glomeruli, which are the small filtering units in your kidneys, are damaged, causing kidney damage.

Alport Syndrome is an inherited disease that is passed down to generations. It is caused by the changes in your genes that encode for a protein called collagen. Collagen is essential in kidney structure as it helps maintain the healthy tissues in the kidneys, eyes, and ears; this is why changes in collagen can also affect the eyes and ears.

TYPES

X-linked Alport Syndrome (XLAS). It is called X-linked because it is related to the X chromosomes, and it is the most common type. Males develop this type of syndrome more often than women, as 90% of men develop kidney failure at the age of 40. On the other hand, women develop kidney failure less frequently than men.

Autosomal recessive Alport syndrome (ARAS). This happens when both parents have an abnormal gene and pass it to their child.

Automsomal dominant Alport Syndrome (ADAS). Only one gene is needed to cause the autosomal-dominant Alport syndrome, which happens when only one parent carries an abnormal gene.

SYMPTOMS

Kidneys will always be affected. When damaged, it cannot filter waste and extra fluid in the body anymore, which often causes hearing problems and eye abnormalities.

These signs and symptoms vary differently from age, gender, and the type of Alport Syndrome inherited.

These signs and symptoms include;

  • Haematuria or blood in the urine
  • Proteinuria or protein found in the urine
  • Hypertension orhigh blood pressure
  • Edema (swelling around the eyes, legs, ankle, and feet)

DIAGNOSIS

Diagnosing factitious disorder is quite hard or difficult because of their habitual lying. Therefore some doctors rule out other physical and mental illnesses of the patient before diagnosing this disorder.

 

TREATMENT

If doctors have ruled out other physical and mental health problems, they may refer the patient to a psychiatrist or a psychologist because they have the capacity or knowledge abut helping people having this condition. They evaluate patients by doing a through medical and psychiatric interview and other assessment tools for them to know the real situation, then they base the findings on how this individual’s behaviour is related to physical or mental illnesses.

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