Approach Considerations
Autosomal recessive polycystic kidney disease
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. Angiotensin-converting enzyme (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.
Because of the large size of the kidneys, unilateral or bilateral nephrectomy is often performed if respiratory compromise is present in the neonatal period or if failure to thrive is present because of the large, bilateral, space-occupying masses that prevent appropriate nourishment.
Once children are in end-stage renal disease, dialysis or transplantation is the only option. Renal transplantation may be necessary in a large number of patients with autosomal recessive polycystic kidney disease.
With better renal care, the course of children with autosomal recessive polycystic kidney disease is further complicated by the hepatic complications described earlier, which require specific therapy by specialists. A large number of hepatic complications require surgical management (eg, sclerotherapy for esophageal varices or portocaval and splenorenal shunt placement).
Autosomal dominant polycystic kidney disease
Medical care in autosomal dominant polycystic kidney disease is directed at reducing morbidity and mortality due to the complications of the disease and includes management of hypertension, renal insufficiency, and end-stage renal disease, similar to autosomal recessive polycystic kidney disease.
Renal insufficiency is less common in children with autosomal dominant polycystic kidney disease than in those with the recessive form, but hemodialysis or peritoneal dialysis or transplantation may be required, as in patients with autosomal recessive polycystic kidney disease.
Long-Term Monitoring
The primary care physician and consulting nephrologist should participate in the care of children and adults with polycystic kidney disease. Once polycystic kidney disease is diagnosed, the frequency of outpatient follow-up with the nephrologist depends on the degree of renal dysfunction and on complicating features, such as a failure to thrive, nutritional and feeding difficulties, hypertension, electrolyte disturbances, urinary infections, and hepatic fibrosis (ie, portal hypertension).
In addition to the significant medical problems, the psychosocial stress on the patient and family can be overwhelming. A team approach in which the skills of the nephrologist are used together with those of other medical specialists (eg, gastroenterologist), specialized nurses, nutritionists, social workers, psychiatrists, and other support staff provides optimal comprehensive care.
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Sonogram shows cysts with bilaterally enlarged kidneys. These findings are compatible with a diagnosis of autosomal dominant polycystic kidney disease (ADPKD).
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Sonogram shows cysts with bilaterally enlarged kidneys. These findings are compatible with a diagnosis of autosomal dominant polycystic kidney disease (ADPKD).
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Sonogram shows cysts with bilaterally enlarged kidneys. These findings are compatible with a diagnosis of autosomal dominant polycystic kidney disease (ADPKD).
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Frontal excretory urogram of autosomal dominant polycystic kidney disease (ADPKD) shows a spider-legs configuration of the collecting system secondary to compression due to cysts.
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Lateral excretory urogram of autosomal dominant polycystic kidney disease (ADPKD) shows a spider-legs configuration of the collecting system secondary to compression due to cysts.
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Pathologic specimen of end-stage autosomal dominant polycystic kidney disease (ADPKD) with deformed lobulated kidneys.
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Sonogram shows enlargement of both kidneys, diffuse increased echogenicity, and loss of corticomedullary differentiation. These findings are compatible with a diagnosis of autosomal recessive polycystic kidney disease (ARPKD).
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Excretory urogram shows minimal bilateral tubular changes caused by a mild form of autosomal recessive polycystic kidney disease (ARPKD).
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Excretory urogram shows enlarged kidneys with bilateral distortion of the collecting system (spider-legs configuration). These findings are compatible with a diagnosis of autosomal recessive polycystic kidney disease (ARPKD).
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Excretory urogram shows the typical mottled (spongelike) contrast pattern in autosomal recessive polycystic kidney disease (ARPKD).
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Excretory urogram shows the typical mottled (spongelike) contrast pattern in autosomal recessive polycystic kidney disease (ARPKD).
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Excretory urogram shows the typical mottled (spongelike) contrast enhancement pattern in autosomal recessive polycystic kidney disease (ARPKD).
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CT shows bilaterally smooth enlarged kidneys. These findings are compatible with a diagnosis of autosomal recessive polycystic kidney disease (ARPKD).
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CT shows bilateral renal and liver cysts with enlarged kidneys and remaining renal cortex enhancement compatible with a diagnosis of autosomal dominant polycystic kidney disease (ADPKD).
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T2-weighted MRI shows bilateral smooth enlarged kidneys with a hyperintense, linear, radial pattern in the cortex and medulla, compatible with autosomal recessive kidney disease.
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T1- and T2-weighted MRIs demonstrating a superior left kidney cyst with high T1 and intermediary T2 signal compatible with a bleeding cyst in autosomal dominant polycystic kidney disease (ADPKD).
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T1- and T2-weighted MRIs demonstrating bilateral renal and liver cysts compatible with autosomal dominant polycystic kidney disease (ADPKD).
