WHAT IS IT?

         Polycystic Kidney Disease (PCKD) in an inherited kidney disease where the kidneys become bigger and bigger with the development of numerous cysts with   eventual loss of  kidney function requiring dialysis or kidney transplant. Such cyst formation is not limited to the kidneys. Numerous cysts could also develop in other organs like Liver, Spleen, Pancreas, Testicles, Ovaries etc. The exact mechanism and cause of such cyst formation is not known. In addition, 'out pouches' (diverticulosis) could develop in the colon.

       PCKD is genetically transmitted as Autosomal Dominant (ADPKD),  as well as, Autosomal recessive types (ARPKD). The common type is the Autosomal Dominant that affects adults.  Less common is the autosomal recessive type that manifests during childhood (some times even when they are still in the womb!)    Child born to a parent with PCKD (autosomal dominant type) has a 50% chance of inheriting the PCKD.

        In addition to developing cysts, patients could also develop aneurysms in the blood vessels of the brain.

    WHO HAS IT? (PREVALENCE)

        One to two out of 10000 (general population)
        More than 600,000 persons in USA
        6000 new cases per year in USA
        10% of all persons requiring chronic dialysis and kidney transplantation

    SYMPTOMS: (OF AUTOSOMAL DOMINANT TYPE)

        * Usually no symptoms until the age of 25 or above
        * Blood in the urine (Hematuria)
        * Flank pain (usually on one side / occasionally both sides)
        * Abdominal pain
        * Frequent urination / esp. at nights / esp. at nights
        * Fever and Chills when one of the cyst is infected
        * Other Signs that might lead to the diagnosis of PCKD
                    1. High Blood Pressure (Hypertension) - in 60% of patients
                    2. Anemia                     3. Blood, only when urine is tested
                    4. Enlarged kidneys on routine examination
                    5. Chronic Renal Failure with abnormal blood tests
                    6. Protein in the urine (Proteinuria)
                    7. Kidney stone (Nephrolithiasis)
                    8. Incidental finding of enlarged kidneys with cysts seen on
                        ultrasound,   MRI or  c.t.scan of the abdomen
                    9. Liver failure in children (autosomal recessive type)

   NATURAL COURSE:

        Numerous cysts continue to form
        Cysts gradually enlarge
        Normal Kidney tissue is gradually lost
        Kidney function will continue to deteriorate eventually
            needing dialysis or kidney transplant

   
        Cysts gradually enlarge
        Normal Kidney tissue is gradually lost
        Kidney function will continue to deteriorate eventually
            needing dialysis or kidney transplant

    TREATMENT:

         No treatment to cure the disease is available
         No preventive measures are available
         People with PCKD who wish to have children should seek
                genetic counseling
         The following measures will help to preserve the kidney
                function and might help postpone the need for eventual
                dialysis and transplantation:
                    1. Control the High Blood Pressure (Hypertension)
                    2. Moderate reduction of protein in the diet

        Other measures that are usually needed:
                1. Treatment of anemia (with Iron supplements and Erythropoietin injections)
                2. Treatment of pain due to infection, stones and Bleeding into the cysts
                3. Treatment of Urinary tract infection / infected cysts
                4. Monitoring for aneurysms in the brain (MR-Angiograms) if needed
                5. Occasionally drain the cysts that are too big and are causing pain

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