Polycystic kidney disease- type 1

Synonyms

1

Overview

Polycystic kidney disease type 1, aslo known as autosomal dominant polycystic kidney disease: A rare condition where cysts in the kidney grow and cause the kidney to become larger and reduce it's ability to function. PKD 1 is an autosomal dominant form of the disease and differs from PKD 2 in that it is more severe and is caused by a mutation in a different gene

Symptoms

• Enlarged abdomen

• Enlarged kidneys

• Dehydration

• Hypertension

• Emaciation

 

Causes

Although both types of polycystic kidney disease are genetically transmitted, the incidence in two distinct age-groups and different inheritance patterns suggest two unrelated disorders. The infantile type appears to be inherited as an autosomal recessive trait; the adult type, as an autosomal dominant trait. Both types affect males and females equally.

Diagnosis

The main method used to diagnose PKD is an ultrasound. This test uses sound waves to generate echo patterns to detect the presence of cysts. The ultrasound can show both the number and size of individual cysts in the kidney and liver. You might also be referred for a CT scan, a method that uses X-rays to detect very tiny cysts. Another method of diagnosis is called gene linkage analysis. Blood tests from family members can be used to detect which family member carries the PKD gene. This method, however, requires availability of DNA from multiple affected members of the family. More recently, direct genetic testing for a mutation on the PKD1 and PKD2 genes is being used to diagnose autosomal dominant PKD. Before you consider being tested for PKD, it is important to discuss with your doctor the benefits and risks involved. These can include determining the possibility of having a child with PKD, and what the test results might mean to career and insurance discrimination.

Treatment

Medical care in autosomal recessive polycystic kidney disease (ARPKD) Survival of neonates depends on neonatal artificial ventilation and intensive care, as well as the degree of pulmonary hypoplasia. In order to optimize ventilation, fluid overload can be managed with diuretics, continuous renal replacement therapy, and nephrectomy. If evidence of concentrating defects is observed in infants without significant renal insufficiency, thiazides may be useful. Bicarbonate supplements may be necessary for correction of metabolic acidosis. Systemic hypertension should be aggressively treated with antihypertensive medication. ACE inhibitors are the drugs of choice. Calcium channel blockers, beta-blockers, and the judicious use of diuretics are also potential options. Antibiotics are used to treat urinary tract infections. Once children with autosomal recessive polycystic kidney disease develop chronic kidney disease, they require management of anemia with iron and erythropoietin; prevention of metabolic bone disease with calcium supplements, phosphate binders, and parathyroid-suppressing medication; and growth hormone to counter the growth-limiting effects of uremia. Once children with autosomal recessive polycystic kidney disease are in end-stage renal disease, dialysis or transplantation is the only option. With better renal care, the course of children with autosomal recessive polycystic kidney disease is further complicated by the hepatic complications listed above, which require specific therapy by specialists.