What is Autosomal Dominant Polycystic Kidney Disease?

Autosomal Dominant Polycystic Kidney Disease
Autosomal Dominant Polycystic Kidney Disease

What is Autosomal Dominant Polycystic Kidney Disease?

Autosomal Dominant Polycystic Kidney Disease is a kidney disorder characterized by the formation of non-cancerous cysts that impair kidney function and ultimately lead to total kidney failure, commonly abbreviated PKD (Polycystic Kidney Disease).

Cysts that appear in cases of PKD may not be cancerous, but this disorder not only attacks the kidneys. There is the possibility that the cyst may spread to other organs, such as the liver, heart, and brain and this can lead to heart murmurs, brain aneurysms or even strokes to death.

There are three types of PKD: PKD Autosomes Resesif (ARPKD), PKD Autosomal Dominant (ADPKD), and Kidney Diseases non offspring (ACKD). Of these three types, only ACKD is not inherited.

Ninety percent of cases of PKD are ADPKD (derivatives), mainly because only one parent needs to have this disease to be passed on to his or her children. A child may already show early symptoms of the disease, but usually occurs when the child reaches the age of 30 or 40 years.

ARPKD is not very common because both parents need to have the same disorder to be relegated to their child. Furthermore, ARPKD is classified into 4 types: perinatal, neonatal, infant, and adolescent. Each of these types is based on life span when symptoms begin to appear.

People who already have kidney problems are at risk of being exposed to ACKD, especially if already undergoing dialysis due to kidney failure.

Causes of Autosomal Dominant Polycystic Kidney Disease

Autosomal Dominant Polycystic Kidney Disease is caused by gene abnormalities that can be passed from parent to child. However, in rare cases where no family history has PKD, the disorder is caused by a genetic mutation.

If left untreated, PKD may cause complications, some of which can be life-threatening. Some of the most common compli- cations are high blood pressure, liver cyst, reduced or complete kidney function, colon problems, chronic pain, cerebral aneurysms, and heart valve abnormalities.

It is common for pregnant women to show symptoms during pregnancy because most people with PKD have had the disorder since childhood. Although most pregnancies with PKD show no symptoms, it is possible for the pregnant woman to have a condition called preeclampsia.

Symptoms of Autosomal Dominant Polycystic Kidney Disease

Autosomal Dominant Polycystic Kidney Disease is a renal disorder, but this disorder also affects other organs, which is generally the reason why these disorders show various symptoms. Some of the most common symptoms are hypertension, blood in the urine, urinary tract infections, kidney infections, kidney failure, increased abdominal size, back pain, headache, and frequent urination.

It is important to note that most people with PKD do not show symptoms until they are old. Many PKD patients do not even know they have the disorder. Unfortunately, the absence of symptoms does not mean that the disorder has not caused damage to the kidneys.

It is important to consult your doctor if you find any of the above symptoms. If you do not have any symptoms, but PKD is in your family history or if it is owned by a first-level family, you should consult your doctor as a precaution.

Treatment of Autosomal Dominant Polycystic Kidney Disease

Autosomal Dominant Polycystic Kidney Disease most of the symptoms of PKD are also associated with various diseases and disorders. It is possible you should consult a doctor and mention one or more symptoms as your main complaint. Then, your doctor will review your medical history and do a physical exam. You may need to undergo several laboratory tests, such as full blood count (CBC) and urine examination, to determine the cause of the symptoms.

If your doctor suspects PKD, your doctor will review your family history. You will then be referred to a specialist for further examination to determine your condition and treatment.

Once your pediatrician receives your case, you will undergo further tests to determine the cause of the condition and how far your disease has spread in your body. Remember that cysts not only affect the kidneys, but can also spread to other organs.

The most common examinations include ultrasound to find cysts in the stomach; CT scan or X-ray stomach to find small cysts; MRI stomach to see your kidney condition; And an intravenous pyelogram so that the blood vessels will appear clearly on X-rays.

If your expert doctor suspects the risk of brain aneurysm, you will also undergo cerebral angiography.

Once your expert doctor has confirmed that the organs in the body are affected by PKD, you will be given a treatment plan. It is important to understand that PKD treatment involves controlling symptoms, particularly high blood pressure, which is a major cause of various medical problems, such as kidney failure and heart disease.

Your treatment will also include the administration of medications to reduce pain, antibiotics to treat infections, diuretics to remove excess fluid, and surgery to dry the cyst. You will also be given a low-salt diet to reduce the possibility of accumulation of fluids.

If PKD has affected the kidneys, dialysis would be advisable to prevent the buildup of exhaust products in your bloodstream. If you experience failure in both kidneys, a kidney transplant will be required.

With proper care and lifestyle changes, many people with PKD can live a normal life. However, in some people, PKD gets worse to cause liver disease or kidney failure. If the problem is centered on the kidney, a kidney transplant will help you to live a normal life.

Patients with PKD will need a lot of support from friends and family members. In some cases, the patient also needs to undergo guidance to help him overcome the condition. Fortunately, a number of support groups are dedicated to helping PKD patients live their lives despite the disruption.

Reference:

  • Amaout MA. Cystic kidney diseases. In: Goldman L, Ausiello D, eds. Cecil Medicine. 24th ed. Philadelphia, Pa: Saunders Elsevier; 2011: chap 128.
  • Porter CC, Avner Ed. Anatomic abnormalities associated with hematuria. In: Kliegman RM, Stanton BF, St.
  • Geme JW III, Schor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011: chap 515.
  • Torres VE, Grantham JJ. Cystic diseases of the kidney. In: Brenner BM, ed. Brenner and Rector’s the Kidney. 8th ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 41.
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