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Cystic kidney disease presenting in infancy
A J Saunders1, E Denton, S Stephens
1Department of Diagnostic Radiology, Guy's Hospital, London, UK.
Insights
Severe renal cystic disease in infants presents a diagnostic challenge. Parental ultrasound is crucial for diagnosis, as imaging alone cannot determine prognosis or specific cause.
Area of Science:
- Pediatric Nephrology
- Medical Imaging
- Genetic Disorders
Background:
- Severe renal cystic disease in infants is a complex condition.
- Early diagnosis is critical for management and prognosis.
- Ultrasound is a primary imaging modality for detecting renal abnormalities in neonates.
Purpose of the Study:
- To review clinical, histological, and imaging findings in infants with severe renal cystic disease.
- To evaluate the diagnostic utility of various investigations, including ultrasound and intravenous urography.
- To assess the diagnostic yield of parental ultrasound in identifying underlying genetic causes.
Main Methods:
- Retrospective review of 12 infants diagnosed with severe renal cystic disease in their first year of life.
- Analysis of clinical data, renal biopsies, and imaging studies (ultrasound, intravenous urography).
- Inclusion of parental ultrasound findings for genetic correlation.
Main Results:
- A heterogeneous group of disorders was identified, including cystic dysplasia, autosomal dominant polycystic disease, autosomal recessive polycystic disease, and specific malformation syndromes.
- Renal sonography alone was insufficient for specific diagnosis or prognosis.
- Parental ultrasound proved to be the most valuable imaging procedure for establishing a diagnosis.
Conclusions:
- Severe renal cystic disease in infants represents a common pathway for diverse underlying conditions.
- Diagnosis and prognosis cannot be solely determined by infant renal sonography or intravenous urography.
- Parental ultrasound is essential for accurate diagnosis and should be performed in all suspected cases.
Aim:
The clinical, histological and imaging findings of 12 children with ultrasound features of severe renal cystic disease presenting in the first year of life were reviewed.
Methods And Results:
Two children had cystic dysplasia and four had autosomal dominant polycystic disease. Two had a malformation syndrome, one a variant of Meckel syndrome and the other Bardet Biedl syndrome. One had autosomal recessive polycystic disease and in three there was no final diagnosis. Intravenous urography gave non-specific information. In six cases clinical findings combined with imaging established a diagnosis. Diagnosis was established by biopsy in two and gave supportive evidence in one. Outlook for renal function is variable. One child has had a transplant and one is on dialysis awaiting a transplant. Three have a degree of renal failure and one has died. Six have normal renal function. Renal cystic disease is the common pathway for a heterogeneous group of disorders as shown in these children.
Conclusion:
It is emphasized that a specific diagnosis could not be made from the renal sonographic appearances alone, nor could any prognostic implications for renal function be made. Contrast retention on intravenous urography was also insufficiently specific to be of value. Ultrasound of the parents was the most useful imaging procedure and should be done in all cases.