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Screening for polycystic kidney disease: importance of clinical presentation in the newborn
Insights
Fifty percent of children with adult polycystic kidney disease (ADPKD) gene show early signs on renal ultrasonography. Some cases present at birth with bilateral renal masses, suggesting distinct disease forms in pediatric ADPKD.
Area of Science:
- Nephrology
- Medical Genetics
- Pediatric Imaging
Background:
- Adult polycystic kidney disease (ADPKD) is an inherited disorder.
- Fifty percent of offspring of affected individuals carry the ADPKD gene.
- Clinical manifestations in childhood are uncommon, but genetic carriers may show early renal changes.
Purpose of the Study:
- To investigate the utility of renal ultrasonography in detecting early signs of ADPKD in children.
- To characterize the presentation of ADPKD in pediatric patients, including those diagnosed at birth.
- To explore potential differences in ADPKD presentation between early-onset and later-onset childhood cases.
Main Methods:
- Renal ultrasonography was performed on 22 children with known parental ADPKD.
- Four additional children with bilateral renal masses at birth, later diagnosed with ADPKD, were analyzed.
- Follow-up assessments included clinical evaluation and monitoring for renal insufficiency and hypertension.
Main Results:
- Six of 22 children (27%) showed evidence of ADPKD on ultrasonography without clinical symptoms.
- These positive cases were detected at various ages from 1 to 14 years.
- Four children presented with bilateral renal masses at birth; one developed mild renal failure by age 20, while others remained asymptomatic.
Conclusions:
- Renal ultrasonography can detect subclinical ADPKD in genetically at-risk children.
- Pediatric ADPKD may present bimodally: at birth with renal masses or later in childhood without overt symptoms.
- Early-onset ADPKD diagnosed at birth might represent a distinct clinical entity compared to cases identified through screening.
Abstract:
Fifty per cent of the offspring of adults with the adult (dominant) form of polycystic kidney disease are carriers of the abnormal gene. Clinical symptoms and signs before adolescence are rare, but renal ultrasonography may detect evidence of cyst formation. Twenty two children, all offspring of parents with known adult polycystic kidney disease, have undergone renal ultrasonography. In six cases evidence of disease was detected without clinical manifestations at the ages of 1, 2, 5, 8, 13, and 14 years. There were no renal masses, hypertension, haematuria, or evidence of renal insufficiency. In four children from three sibships, whose families had no previous history of renal disease, bilateral renal masses were noted to be present at birth. In each case one parent was subsequently found to have adult polycystic kidney disease. At the ages of 1, 4, 6, and 20 years, while renal masses were still palpable, there was no evidence of renal insufficiency or hypertension in the younger children, while the oldest had mild renal failure. An analysis of the reported cases in childhood is suggestive of a bimodal distribution of enlarged kidneys, with a number of cases diagnosed at birth or soon after, followed by an increasing incidence during later childhood. Adult polycystic kidney disease presenting at birth may be qualitatively different from the disease detected by screening programmes of children at risk.