What is Acrocyanosis and Alport syndrome?

Acrocyanosis and Alport syndrome:

Acrocyanosis and Alport syndrome both are different diseases. They don’t have any connection or inter link with each other.

Acrocyanosis:

The decrease in the amount of oxygen that is supplied to the extremities is called Acrocyanosis. This decrease in the blood supply occurs due to constriction or spasm of small blood vessels. Due to the lack of oxygen, hands and feet turn blue, or maybe swollen some body parts occur. This condition usually happens due to cold, stress and in some cases, tension and depression also cause the Acrocyanosis

Acrocyanosis

 

Brief description Acrocyanosis

Acrocyanosis is actually a disorder in which the patient doesn’t feel any pain in the affected areas. It is caused by the spasm or constriction of blood vessels in the skin of the sufferer. Due to the constriction of blood vessels, oxygen supply decreases. Hands are the main affected areas of this disorder. Due to less supply of blood and oxygen, the affected areas turn blue, cold, and sweaty. Swelling may also occur during this disorder. Cold temperature and emotions may increase the intensity and symptoms of this disorder while warmth can decrease symptoms. People with this disorder are more likely to become uncomfortable, with sweaty, cold bluish-colored hands and feet. This disorder is more common in women than men.

 

 

Signs and symptoms of Acrocyanosis

Peripheral blood vessels that deliver blood to the extremities become constricted and narrowed by the sympathetic nerves. The muscles of the walls of the blood vessels become contracted. Due to contraction, the internal diameter of blood vessels decreases. This narrow diameter creates hurdles in passing the blood through blood vessels due to which oxygen supply becomes lower. Spasm is a persistent condition that causes a reduction of blood supply on a long-term basis to the hands and feet. The blood vessels near the skin surface were affected greatly due to insufficient supply of blood and turned bluish or swelling happens. There is no pain in these areas just change the colors.

Detection of Acrocyanosis

Detection of this disorder is very easy and it is diagnosed by checking the clinical symptoms. The main symptoms include persistently blue and sweaty hands, feet, and numbness or lack of pain. The blueness of hands may increase by cooling them whereas warming hands may decrease the blueness of hands. The pulse of the patient remains normal and he feels no pain. More common in women and very rarely in men.

 

 

Treatment of Acrocyanosis

This disorder is not treated usually because this disease is not permanent. in some cases, it may remain in winter and disappears in the summer season.  The drugs that can reduce the symptoms of Acrocyanosis are calcium channel blockers and alpha-one antagonists. Sweating from hands requires serious treatment. In some rare cases, surgery is done to cut the sympathetic nerves.

Prognosis of Acrocyanosis

Acrocyanosis is a persistent and benign disorder. The major concern of the sufferers is cosmetics. Sometimes a healthy newborn may suffer from Acrocyanosis and after a few hours, the condition becomes normal.

 

 

Alport Syndrome:

alport syndrome

It is a hereditary disease. The main affection area of this disease is the kidney. This syndrome features blood in urine, loss of hearing, and eye problems. In the final stage, kidneys are subjected to dialysis or sometimes transplantation becomes inevitable.

Brief description

This is a rare syndrome, which affects 1 in 5,000 Americans. Mainly men are the victims of this disease instead of women. This syndrome occurs in variety. Some varieties occur in childhood while other varieties of this syndrome don’t expose themselves by showing any symptoms until the men reach the 20s or 30s. All varieties of this syndrome feature kidney diseases that lead to chronic kidney failure and uremia.

Causes of Alport Syndrome

 

In most cases, it is caused by any defect in genes that are located on the X chromosome. This disease is inherited from the mother who can be a normal carrier of this disorder.

Whereas, in 20% of cases family history was clear from this disorder. In such cases, genetic mutation is considered the cause of this syndrome.

 

 

 

Symptoms

Hematuria is a significant symptom of this disorder. Whereas, other symptoms that may appear in varieties of this syndrome are:

  • Proteinuria (protein in the urine)
  • Sensorineural hearing loss
  • Eye problems [involuntary, rhythmic eye movements (nystagmus), cataracts, or cornea problems]
  • Skin problems
  • Platelet disorders
  • Abnormal white blood cells
  • Smooth muscle tumors

Hearing problems are not seen in all Alport patients.

Diagnosis of Alport Syndrome

  1. A medical assessment and family history plays important role in the diagnosis of Alport syndrome.
  2. Furthermore, kidney biopsy, which detects the unusual defects in the conditions of a normal kidney, is also used.
  3. Other tests include Urinalysis, which detects the blood that occurs in the urine. Blood tests reveal low platelet levels.

Alport gene tests are also available these days. Though, these tests are enough costly. A DNA test can also diagnose this syndrome and it is specially used to detect this disease in children. Genetic linkage tracing is also available for the entire family.

Treatment of Alport Syndrome

This syndrome has no specific treatment, but enough care can reduce the complications related to kidney failure. A sufferer should take care of the following things to control kidney inflammation:

  • Restrict fluids
  • Control high blood pressure
  • Manage pulmonary edema
  • Control high blood levels of potassium

 

 

In rare cases, patients having Alport syndrome may develop kidney inflammation (nephritic syndrome),  a set of symptoms, low albumin levels, and swelling. To reduce these problems a patient should take care of the following things:

  • Drink less
  • Eat a salt-free diet
  • Use diuretics
  • Have albumin transfusions

Chronic kidney failure is subjected to dialysis or transplantation.

Prevention against Alport Syndrome

There are no such preventive measures against the onset of this disease, but  some measures are as follows,

  • raising awareness and enough information about this disease can be done.
  • It can be detected if a woman is a carrier of this disease or not. If the baby in the womb has been found to have this condition then genetic counseling can be done.

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