Related Experiment Videos
Polycystic kidney disease in the first year of life
B R Cole1, S B Conley, F B Stapleton
1Southwest Pediatric Nephrology Study Group, Washington University School of Medicine, St. Louis.
Insights
Autosomal recessive polycystic kidney disease (ARPKD) is more common in infants than autosomal dominant PKD. Early diagnosis and supportive care improve outcomes for infants surviving the neonatal period.
Area of Science:
- Pediatric Nephrology
- Medical Genetics
Background:
- Polycystic kidney disease (PKD) encompasses genetic disorders affecting kidney development.
- Distinguishing between autosomal recessive PKD (ARPKD) and autosomal dominant PKD (ADPKD) in infants is crucial for prognosis and management.
Purpose of the Study:
- To determine the incidence of ARPKD and ADPKD in infants.
- To compare the progression rates of these PKD types in early childhood.
- To evaluate diagnostic methods for infantile PKD.
Main Methods:
- Retrospective survey of 48 infants diagnosed with PKD before one year of age.
- Analysis of diagnostic accuracy using renal ultrasonography and excretory urography.
- Longitudinal follow-up data collection for disease progression and outcomes.
Main Results:
- ARPKD was more frequent than ADPKD in the studied infant cohort.
- Renal ultrasonography was more effective than excretory urography in diagnosing ARPKD.
- Most infants required antihypertensive therapy; significant renal failure and mortality were observed in ARPKD cases.
- Early outcomes for infants surviving the neonatal period suggest potential for better prognosis with aggressive care.
Conclusions:
- Accurate diagnosis of infantile PKD requires a combination of family history, imaging, and potentially biopsy.
- While challenging, early diagnosis and aggressive supportive care can improve the outlook for infants with PKD.
- Further research is needed for long-term ADPKD outcomes in infants.
Abstract:
To determine the frequency of autosomal recessive and autosomal dominant polycystic kidney disease (PKD) in infants and to compare the rate of progression of these conditions, we conducted a retrospective survey of 48 patients who were seen with PKD before 1 year of age and who survived the first month of age. Seventeen patients had recessive PKD; six had dominant PKD. Eighteen patients had insufficient data to categorize the type of PKD with certainty. Seven patients were classified as "other"; three had glomerulocystic disease and the remainder had multiple malformation syndromes or tuberous sclerosis. Renal ultrasonography and excretory urography accurately detected 15 of 17 patients with recessive PKD, but only one patient with dominant PKD was correctly diagnosed by excretory urography. The majority of patients in all groups required antihypertensive therapy. The 17 children with recessive PKD have been followed up for 6.1 +/- 4.3 (SD) years. Eight patients are doing well. Two patients have died; five others have required treatment for renal failure. Only one patient has an estimated glomerular filtration rate within the normal range after 6 years of age. Long-term evaluation of most of the patients with dominant PKD is not yet available; however, by age 42 months one patient has required dialysis. To provide optimum genetic counseling and accurate diagnosis for patients with PKD, a combination of careful family evaluation, radiography, and liver or kidney biopsy is required. The outcome of patients who survive the neonatal period appears not to be so grim as previously feared, underscoring the importance of aggressive supportive care and the need for physician and family education.