Related Experiment Videos
Diffuse renal cystic disease in children: morphologic and genetic correlations
L M Guay-Woodford1, C A Galliani, E Musulman-Mroczek
1Department of Medicine, University of Alabama at Birmingham, 35294, USA.
Insights
Histopathology revealed a spectrum of kidney cystic diseases, not just autosomal recessive polycystic kidney disease (ARPKD), in infants and fetuses initially diagnosed with ARPKD. Biliary dysgenesis was also common.
Area of Science:
- Pediatric Nephrology
- Medical Genetics
- Developmental Biology
Background:
- Enlarged, hyperechoic kidneys in infants and fetuses often lead to an initial clinical diagnosis of autosomal recessive polycystic kidney disease (ARPKD).
- Accurate diagnosis is crucial for understanding prognosis and genetic counseling.
Purpose of the Study:
- To analyze the histopathological spectrum of kidney cystic diseases in infants and fetuses.
- To compare histopathological findings with the initial clinical diagnosis of ARPKD.
- To explore the embryological context and role of molecular genetics in diagnosis.
Main Methods:
- Evaluation of nine cases (seven infants, two fetuses) with enlarged, hyperechoic kidneys.
- Comprehensive renal and liver histopathology analysis.
- Review of clinical and family data.
- Discussion of embryological correlations and molecular genetics.
Main Results:
- Histopathology revealed a range of cystic kidney diseases, including ARPKD, glomerulocystic kidney disease, autosomal dominant polycystic kidney disease, and diffuse cystic dysplasia.
- Biliary dysgenesis was observed in eight cases with available liver histopathology.
- Initial clinical diagnosis of ARPKD was not always confirmed by histopathology.
Conclusions:
- The histopathological spectrum of congenital cystic kidney disease is broader than initially suspected.
- Histopathology is essential for accurate diagnosis, differentiating various cystic kidney diseases.
- Understanding these conditions in an embryological context and utilizing molecular genetics aids diagnosis.
Abstract:
During a 5-year period, we evaluated seven infants and two fetuses who presented with enlarged, hyperechoic kidneys. In each, the initial clinical diagnosis was autosomal recessive polycystic kidney disease (ARPKD). Among the seven unrelated infants were three Caucasian and four African-American infants. No syndromic stigmata were evident in any of these infants. At the time of the initial evaluation, the family data were incomplete for four infants. The two fetuses were presumed to be at-risk for ARPKD based on the diagnosis in previous siblings. Renal histopathology was evaluated in all nine cases and revealed a spectrum of cystic disease ranging from ARPKD to glomerulocystic kidney disease to autosomal dominant polycystic kidney disease to diffuse cystic dysplasia. In the eight cases for whom liver histopathology was available, varying degrees of biliary dysgenesis were evident. We present a detailed analysis of the key histopathological features in each case and discuss the histopathological findings in an embryological context. In addition, we address the current role of molecular genetics in the diagnostic evaluation.